Human Disease Genes with Mouse Orthologs with hits in the FANTOM2 set.

The number of FANTOM2 clones is the number of hits from the TBLASTN analyses between human proteins and FANTOM2 set with a cutoff of e -50 .
Human
LocusID		 number of
FANTOM2
clones		Mouse
ortholog
LocusID		 Human
Gene Symbol		 Phenotype OMIM GI Human
Chromosomal
Position		 Human Gene Name (Disease Name)
2211287 A2M Emphysema due to alpha-2-macroglobulin deficiency 103950 5 12p13.3-p12.3 Alzheimer disease, susceptibility to; Emphysema due to alpha-2-macroglobulin deficiency
121719067 SERPINA3 Alpha-1-antichymotrypsin deficiency 107280 8 14q32.1 serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3
191011303 ABCA1 Tangier disease 600046 5 9q31.1 ATP-binding cassette, sub-family A (ABC1), member 1
241111304 ABCA4 Cone-rod dystrophy 3 601691 5 1p22.1-p21 ATP-binding cassette, sub-family A (ABC1), member 4
253411350 ABL1 Leukemia, chronic myeloid 189980 10 9q34.1 v-abl Abelson murine leukemia viral oncogene homolog 1
331111363 ACADL Acyl-CoA dehydrogenase, long chain, deficiency of 201460 2 2q34-q35 acyl-Coenzyme A dehydrogenase, long chain
341311364 ACADM Acyl-CoA dehydrogenase, medium chain, deficiency of 607008 7 1p31 acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain
351411409 ACADS Acyl-CoA dehydrogenase, short-chain, deficiency of 606885 4 12q22-qter acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain
37811370 ACADVL VLCAD deficiency 201475 6 17p13-p11 acyl-Coenzyme A dehydrogenase, very long chain
387110446 ACAT1 3-ketothiolase deficiency 203750 3 11q22.3-q23.1 acetyl-Coenzyme A acetyltransferase 1 (acetoacetyl Coenzyme A thiolase)
51711430 ACOX1 Adrenoleukodystrophy, pseudoneonatal 264470 7 17q24-17q25 acyl-Coenzyme A oxidase 1, palmitoyl
703611464 ACTC Cardiomyopathy, familial hypertrophic 102540 3 15q11-q14 actin, alpha, cardiac muscle
94811482 ACVRL1 Hereditary hemorrhagic telangiectasia-2 601284 4 12q11-q14 activin A receptor type II-like 1
100111486 ADA Severe combined immunodeficiency due to ADA deficiency 102700 7 20q12-q13.11 adenosine deaminase
1541211555 ADRB2 Asthma, nocturnal, susceptibility to 109690 12 5q31-q32 adrenergic, beta-2-, receptor, surface
174711576 AFP Hereditary persistence of alpha-fetoprotein 104150 7 4q11-q13 alpha-fetoprotein
175211593 AGA Aspartylglucosaminuria 208400 8 4q32-q33 aspartylglucosaminidase
178477559 AGL Glycogen storage disease IIIb 232400 12 1p21 amylo-1, 6-glucosidase, 4-alpha-glucanotransferase (glycogen debranching enzyme, glycogen storage disease type III)
1821016449 JAG1 Tetralogy of Fallot 601920 7 20p12.1-p11.23 jagged 1 (Alagille syndrome)
183211606 AGT Hypertension, essential, susceptibility to 106150 6 1q42-q43 angiotensinogen (serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 8)
185111607 AGTR1 Hypertension, essential 106165 14 3q21-q25 angiotensin II receptor, type 1
185111608 AGTR1 Hypertension, essential 106165 14 3q21-q25 angiotensin II receptor, type 1
203311636 AK1 Hemolytic anemia due to adenylate kinase deficiency 103000 3 9q34.1 adenylate kinase 1
2084011652 AKT2 Ovarian carcinoma 164731 3 19q13.1-q13.2 v-akt murine thymoma viral oncogene homolog 2
210217025 ALAD Lead poisoning, susceptibility to 125270 6 9q34 aminolevulinate, delta-, dehydratase
212811656 ALAS2 Anemia, sideroblastic/hypochromic 301300 5 Xp11.21 aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia)
213711657 ALB Analbuminemia 103600 10 4q11-q13 albumin
215611666 ABCD1 Adrenoleukodystrophy 300100 6 Xq28 ATP-binding cassette, sub-family D (ALD), member 1
2171411669 ALDH2 Alcohol intolerance, acute 100650 7 12q24.2 aldehyde dehydrogenase 2 family (mitochondrial)
224811671 ALDH3A2 Sjogren-Larsson syndrome 270200 6 17p11.2 aldehyde dehydrogenase 3 family, member A2
226811674 ALDOA Aldolase A deficiency 103850 11 16q22-q24 aldolase A, fructose-bisphosphate
229811675 ALDOB Fructose intolerance 229600 8 9q21.3-q22.2 aldolase B, fructose-bisphosphate
249211647 ALPL Hypophosphatasia, infantile 171760 5 1p36.1-p34 alkaline phosphatase, liver/bone/kidney
2702109673 AMPD1 Myoadenylate deaminase deficiency 102770 3 1p13 adenosine monophosphate deaminase 1 (isoform M)
272211717 AMPD3 AMP deaminase deficiency, erythrocytic 102772 7 11p15 adenosine monophosphate deaminase (isoform E)
2862011733 ANK1 Spherocytosis-2 182900 15 8p11.1 ankyrin 1, erythrocytic
324611789 APC Adenoma, periampullary 175100 4 5q21-q22 adenomatosis polyposis coli
325320219 APCS ?Amyloidosis, secondary, susceptibility to 104770 6 1q21-q23 amyloid P component, serum
335111806 APOA1 ApoA-I and apoC-III deficiency, combined 107680 10 11q23-q24 apolipoprotein A-I
338011809 APOB Abetalipoproteinemia 107730 25 2p24-p23 apolipoprotein B (including Ag(x) antigen)
348211816 APOE Sea-blue histiocyte disease 107741 8 19q13.2 apolipoprotein E
350111818 APOH Apolipoprotein H deficiency 138700 9 17q23-qter apolipoprotein H (beta-2-glycoprotein I)
351311820 APP Amyloidosis, cerebroarterial, Dutch type 104760 8 21q21.3 amyloid beta (A4) precursor protein (protease nexin-II, Alzheimer disease)
353111821 APRT Urolithiasis, 2,8-dihydroxyadenine 102600 4 16q24 adenine phosphoribosyltransferase
355114102 TNFRSF6 Squamous cell carcinoma, burn scar-related, somatic 134637 4 10q24.1 tumor necrosis factor receptor superfamily, member 6
356114103 TNFSF6 Systemic lupus erythematosus, susceptibility 134638 7 1q23 tumor necrosis factor (ligand) superfamily, member 6
358611826 AQP1 Colton blood group 110450 8 7p14 aquaporin 1 (channel-forming integral protein, 28kDa)
359811827 AQP2 Diabetes insipidus, nephrogenic, autosomal recessive 107777 5 12q12-q13 aquaporin 2 (collecting duct)
367211835 AR Prostate cancer, susceptibility to 313700 13 Xq11.2-q12 androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)
410311883 ARSA Metachromatic leukodystrophy 250100 4 22q13.33 arylsulfatase A
411511881 ARSB Maroteaux-Lamy syndrome, several forms 253200 5 5p11-q13 arylsulfatase B
4352109900 ASL Argininosuccinicaciduria 207900 6 7cen-q11.2 argininosuccinate lyase
443411484 ASPA Canavan disease 271900 3 17pter-p13 aspartoacylase (aminoacylase 2, Canavan disease)
4622611905 SERPINC1 Antithrombin III deficiency 107300 5 1q23-q25.1 serine (or cysteine) proteinase inhibitor, clade C (antithrombin), member 1
487311937 ATP2A1 Brody myopathy 108730 2 16p12.1 ATPase, Ca++ transporting, cardiac muscle, fast twitch 1
488811938 ATP2A2 Darier disease 108740 3 12q23-q24.1 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
5254110935 ATP6V1B1 Renal tubular acidosis with deafness 192132 4 2p13.1 ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B, isoform 1 (Renal tubular acidosis with deafness)
538211977 ATP7A Cutis laxa, neonatal 300011 2 Xq13.2-q13.3 ATPase, Cu++ transporting, alpha polypeptide (Menkes syndrome)
540111979 ATP7B Wilson disease 606882 4 13q14.2-q21 ATPase, Cu++ transporting, beta polypeptide (Wilson disease)
546522589 ATRX Alpha-thalassemia/mental retardation syndrome 300032 14 Xq13.1-q21.1 alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae)
551111998 AVP Diabetes insipidus, neurohypophyseal 192340 9 20p13 arginine vasopressin (neurophysin II, antidiuretic hormone, diabetes insipidus, neurohypophyseal)
554212000 AVPR2 Diabetes insipidus, nephrogenic 304800 7 Xq28 arginine vasopressin receptor 2 (nephrogenic diabetes insipidus)
581112028 BAX Colorectal cancer 600040 17 19q13.3-q13.4 BCL2-associated X protein
583167378 BBS2 Bardet-Biedl syndrome 2 606151 4 16q21 Bardet-Biedl syndrome 2
5901412038 BCHE Apnea, postanesthetic 177400 5 3q26.1-q26.2 butyrylcholinesterase
593112039 BCKDHA Maple syrup urine disease, type Ia 248600 7 19q13.1-q13.2 branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease)
594112040 BCKDHB Maple syrup urine disease, type Ib 248611 7 6p21-p22 branched chain keto acid dehydrogenase E1, beta polypeptide (maple syrup urine disease)
595412443 CCND1 Leukemia/lymphoma, B-cell, 1 168461 11 11q13 cyclin D1 (PRAD1: parathyroid adenomatosis 1)
596212043 BCL2 Leukemia/lymphoma, B-cell, 2 151430 7 18q21.3 B-cell CLL/lymphoma 2
604412053 BCL6 Lymphoma, B-cell 109565 4 3q27 B-cell CLL/lymphoma 6 (zinc finger protein 51)
605377045 BCL7A B-cell non-Hodgkin lymphoma, high-grade 601406 2 12q24.13 B-cell CLL/lymphoma 7A
611212057 OPN1SW Colorblindness, tritan 190900 3 7q31.3-q32 opsin 1 (cone pigments), short-wave-sensitive (color blindness, tritan)
6131110279 BCR Leukemia, chronic myeloid, Leukemia, acute lymphocytic 151410 10 22q11.23 breakpoint cluster region
669612183 BPGM Hemolytic anemia due to bisphosphoglycerate mutase deficiency 222800 4 7q31-q34 2,3-bisphosphoglycerate mutase
672112189 BRCA1 Breast cancer-1 113705 19 17q21 breast cancer 1, early onset
686226363 BTD Biotinidase deficiency 253260 3 3p25 biotinidase
6952612229 BTK XLA and isolated growth hormone deficiency 300300 13 Xq21.33-q22 Bruton agammaglobulinemia tyrosine kinase
712112259 C1QA C1q deficiency, type A 120550 2 1p36.3-p34.1 complement component 1, q subcomponent, alpha polypeptide
713112260 C1QB C1q deficiency, type B 120570 4 1p36.3-p34.1 complement component 1, q subcomponent, beta polypeptide
715550909 C1R C1r/C1s deficiency, combined 216950 3 12p13 complement component 1, r subcomponent
718312266 C3 C3 deficiency 120700 2 19p13.3-p13.2 complement component 3
720120567 C4A C4 deficiency 120810 9 6p21.3 complement component 4A
721112268 C4B C4 deficiency 120820 5 6p21.3 complement component 4B
727315139 C5 C5 deficiency 120900 3 9q32-q34 complement component 5
729212274 C6 C6 deficiency 217050 5 5p13 complement component 6
7321110382 C8B C8 deficiency, type II 120960 3 1p32 complement component 8, beta polypeptide
7601012349 CA2 Renal tubular acidosis-osteopetrosis syndrome 259730 6 8q22 carbonic anhydrase II
773412286 CACNA1A Hemiplegic migraine, familial 601011 18 19p13.2-p13.1 calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
778254652 CACNA1F Night blindness, congenital stationary, X-linked, type 2 300110 5 Xp11.23 calcium channel, voltage-dependent, alpha 1F subunit
779312292 CACNA1S Malignant hyperthermia susceptibility 5 114208 6 1q32 calcium channel, voltage-dependent, L type, alpha 1S subunit
788157279 SLC25A20 Carnitine-acylcarnitine translocase deficiency 212138 3 3p21.31 solute carrier family 25 (carnitine/acylcarnitine translocase), member 20
799312311 CALCR Osteoporosis, postmenopausal, susceptibility 114131 8 7q21.3 calcitonin receptor
8251012335 CAPN3 Muscular dystrophy, limb-girdle, type 2A 114240 5 15q15.1-q21.1 calpain 3, (p94)
846712374 CASR Hypocalciuric hypercalcemia, type I 601199 7 3q21-q24 calcium-sensing receptor (hypocalciuric hypercalcemia 1, severe neonatal hyperparathyroidism)
847212359 CAT Acatalasemia 115500 3 11p13 catalase
859412391 CAV3 Muscular dystrophy, limb-girdle, type IC 601253 7 3p25 caveolin 3
860212393 RUNX2 Dental anomalies, isolated 600211 6 6p21 runt-related transcription factor 2
861112394 RUNX1 Platelet disorder, familial, with associated myeloid malignancy 151385 11 21q22.3 runt-related transcription factor 1 (acute myeloid leukemia 1; aml1 oncogene)
865112400 CBFB Myeloid leukemia, acute, M4Eo subtype 121360 5 16q22.1 core-binding factor, beta subunit
8661012401 SERPINA6 Transcortin deficiency 122500 2 14q32.1 serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6
875212411 CBS Thrombosis, hyperhomocysteinemic 236200 10 21q22.3 cystathionine-beta-synthase
889379264 CCM1 Cerebral cavernous malformations-1 604214 4 7q21-q22 cerebral cavernous malformations 1
919212503 CD3Z CD3, zeta chain, deficiency 186780 3 1q22-q23 CD3Z antigen, zeta polypeptide (TiT3 complex)
920112504 CD4 Lupus erythematosus, susceptibility to 186940 3 12pter-p12 CD4 antigen (p55)
948612491 CD36 Platelet glycoprotein IV deficiency 173510 11 7q11.2 CD36 antigen (collagen type I receptor, thrombospondin receptor)
9991712550 CDH1 Ovarian carcinoma 192090 13 16q22.1 cadherin 1, type 1, E-cadherin (epithelial)
10191212567 CDK4 Melanoma 123829 12 12q14 cyclin-dependent kinase 4
1075213032 CTSC Haim-Munk syndrome 602365 3 11q14.1-q14.3 cathepsin C
1080912638 CFTR Cystic fibrosis 602421 8 7q31.2 cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)
1121212662 CHM Choroideremia 300390 3 Xq21.2 choroideremia (Rab escort protein 1)
1130617101 CHS1 Chediak-Higashi syndrome 606897 3 1q42.1-q42.2 Chediak-Higashi syndrome 1
11341811435 CHRNA1 Myasthenic syndrome, slow-channel congenital 100690 3 2q24-q32 cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle)
11371811438 CHRNA4 Epilepsy, nocturnal frontal lobe, 1 118504 5 20q13.2-q13.3 cholinergic receptor, nicotinic, alpha polypeptide 4
11391511441 CHRNA7 Schizophrenia, neurophysiologic defect in 118511 7 15q14 cholinergic receptor, nicotinic, alpha polypeptide 7
11401411443 CHRNB1 Myasthenic syndrome, slow-channel congenital 100710 2 17p13.1 cholinergic receptor, nicotinic, beta polypeptide 1 (muscle)
11451611448 CHRNE Myasthenic syndrome, slow-channel congenital 100725 2 17p13-p12 cholinergic receptor, nicotinic, epsilon polypeptide
11461411449 CHRNG Myasthenia gravis, neonatal transient 100730 3 2q33-q34 cholinergic receptor, nicotinic, gamma polypeptide
1161571991 CKN1 Cockayne syndrome-1 216400 3 5q12.1 Cockayne syndrome 1 (classical)
1180112723 CLCN1 Myotonia congenita, recessive 118425 4 7q35 chloride channel 1, skeletal muscle (Thomsen disease, autosomal dominant)
1184612728 CLCN5 Dent disease 300008 2 Xp11.23-p11.22 chloride channel 5 (nephrolithiasis 2, X-linked, Dent disease)
1188156365 CLCNKB Bartter syndrome, antenatal 602023 4 1p36 chloride channel Kb
1200312751 CLN2 Ceroid-lipofuscinosis, neuronal 2, classic late infantile 204500 4 11p15 ceroid-lipofuscinosis, neuronal 2, late infantile (Jansky-Bielschowsky disease)
1201112752 CLN3 Ceroid-lipofuscinosis, neuronal-3, juvenile 607042 17 16p12.1 ceroid-lipofuscinosis, neuronal 3, juvenile (Batten, Spielmeyer-Vogt disease)
12311612772 CCR2 HIV infection, susceptibility/resistence to 601267 10 3p21 chemokine (C-C motif) receptor 2
12341212774 CCR5 HIV infection, susceptibility/resistance to 601373 42 3p21 chemokine (C-C motif) receptor 5
12441112780 ABCC2 Dubin-Johnson syndrome 601107 4 10q24 ATP-binding cassette, sub-family C (CFTR/MRP), member 2
1259112788 CNGA1 Retinitis pigmentosa, autosomal recessive 123825 3 4p12-cen cyclic nucleotide gated channel alpha 1
12771112842 COL1A1 Osteogenesis imperfecta, type III 120150 15 17q21.3-q22.1 collagen, type I, alpha 1
12781112843 COL1A2 Osteogenesis imperfecta, 3 clinical forms, 166200, 166210 120160 23 7q22.1 collagen, type I, alpha 2
12801112824 COL2A1 Epiphyseal dysplasia, multiple, with myopia and deafness 120140 32 12q13.11-q13.2 collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)
12811112825 COL3A1 Ehlers-Danlos syndrome, type III 120180 17 2q31 collagen, type III, alpha 1 (Ehlers-Danlos syndrome type IV, autosomal dominant)
1285212828 COL4A3 Alport syndrome, autosomal recessive 120070 16 2q36-q37 collagen, type IV, alpha 3 (Goodpasture antigen)
1286112829 COL4A4 Alport syndrome, autosomal recessive 120131 5 2q35-q37 collagen, type IV, alpha 4
1287112830 COL4A5 Alport syndrome 303630 11 Xq22 collagen, type IV, alpha 5 (Alport syndrome)
12882094216 COL4A6 Leiomyomatosis, diffuse, with Alport syndrome 303631 14 Xq22 collagen, type IV, alpha 6
1289212831 COL5A1 Ehlers-Danlos syndrome, type II 120215 5 9q34.2-q34.3 collagen, type V, alpha 1
12901112832 COL5A2 Ehlers-Danlos syndrome, type I 120190 9 2q14-q32 collagen, type V, alpha 2
1291212833 COL6A1 Bethlem myopathy 120220 6 21q22.3 collagen, type VI, alpha 1
1292312834 COL6A2 Bethlem myopathy 120240 15 21q22.3 collagen, type VI, alpha 2
1293312835 COL6A3 Bethlem myopathy 120250 9 2q37 collagen, type VI, alpha 3
1294112836 COL7A1 Epidermolysis Epidermolysis bullosa dystrophica, AR 120120 7 3p21.1 collagen, type VII, alpha 1 (epidermolysis bullosa, dystrophic, dominant and recessive)
1299212841 COL9A3 Intervertebral disc disease, susceptibility to 120270 4 20q13.3 collagen, type IX, alpha 3
1301212814 COL11A1 Marshall syndrome 120280 8 1p21 collagen, type XI, alpha 1
1302212815 COL11A2 OSMED syndrome 601868 11 6p21.3 collagen, type XI, alpha 2
1308412821 COL17A1 Epidermolysis bullosa, generalized atrophic benign 113811 6 10q24.3 collagen, type XVII, alpha 1
1311212845 COMP Pseudoachondroplasia 600310 5 19p13.1 cartilage oligomeric matrix protein (pseudoachondroplasia, epiphyseal dysplasia 1, multiple)
1356812870 CP Hemosiderosis, systemic, due to aceruloplasminemia 117700 5 3q23-q25 ceruloplasmin (ferroxidase)
1361756373 CPB2 603101 5 13q14.11 carboxypeptidase B2 (plasma, carboxypeptidase U)
13731107486 CPS1 Carbamoylphosphate synthetase I deficiency 237300 3 2q35 carbamoyl-phosphate synthetase 1, mitochondrial
13741012894 CPT1A CPT deficiency, hepatic, type I 600528 3 11q13.1-q13.2 carnitine palmitoyltransferase I, liver
1376512896 CPT2 Myopathy due to CPT II deficiency 600650 6 1p32 carnitine palmitoyltransferase II
1378212946 CR1 ?SLE susceptibility 120620 17 1q32 complement component (3b/4b) receptor 1, including Knops blood group system
1387212914 CREBBP Rubenstein-Taybi syndrome 600140 3 16p13.3 CREB binding protein (Rubinstein-Taybi syndrome)
1406112951 CRX Retinitis pigmentosa, late-onset dominant 602225 3 19q13.3 cone-rod homeobox
1415312961 CRYBB2 Cataract, cerulean, type 2 123620 3 22q11.23 crystallin, beta B2
1418212964 CRYGA 123660 2 2q33-q35 crystallin, gamma A
1421212967 CRYGD Cataracts, punctate, progressive juvenile-onset 123690 4 2q33-q35 crystallin, gamma D
14361212978 CSF1R Myeloid malignancy, predisposition to 164770 3 5q33-q35 colony stimulating factor 1 receptor, formerly McDonough feline sarcoma viral (v-fms) oncogene homolog
1441112986 CSF3R 138971 6 1p35-p34.3 colony stimulating factor 3 receptor (granulocyte)
1442718775 CSH1 Placental lactogen deficiency 150200 13 17q24.2 chorionic somatomammotropin hormone 1 (placental lactogen)
1491170338 CTH Cystathioninuria 219500 3 1p31.1 cystathionase (cystathionine gamma-lyase)
1497483429 CTNS Cystinosis, late-onset juvenile or adolescent nephropathic 606272 3 17p13 cystinosis, nephropathic
1499312387 CTNNB1 Colorectal cancer 116806 3 3p21 catenin (cadherin-associated protein), beta 1 (88kDa
15131713038 CTSK Pycnodysostosis 601105 6 1q21 cathepsin K (pycnodysostosis)
1535313057 CYBA Chronic granulomatous disease, autosomal, due to deficiency of CYBA 233690 3 16q24 cytochrome b-245, alpha polypeptide
1536413058 CYBB Chronic granulomatous disease, X-linked 306400 4 Xp21.1 cytochrome b-245, beta polypeptide (chronic granulomatous disease)
15451913078 CYP1B1 Peters anomaly 601771 4 2p21 cytochrome P450, subfamily I (dioxin-inducible), polypeptide 1 (glaucoma 3, primary infantile)
15482513087 CYP2A6 Coumarin resistance 122720 9 19q13.2 cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 6
15572513095 CYP2C19 Mephenytoin poor metabolizer 124020 3 10q24.1-q24.3 cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19
1581713122 CYP7A1 118455 5 8q11-q12 cytochrome P450, subfamily VIIA (cholesterol 7 alpha-monooxygenase), polypeptide 1
1583213070 CYP11A 118485 6 15q23-q24 cytochrome P450, subfamily XIA (cholesterol side chain cleavage)
1586413074 CYP17 Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency 202110 5 10q24.3 cytochrome P450, subfamily XVII (steroid 17-alpha-hydroxylase), adrenal hyperplasia
15931104086 CYP27A1 Cerebrotendinous xanthomatosis 606530 5 2q33-qter cytochrome P450, subfamily XXVIIA (steroid 27-hydroxylase, cerebrotendinous xanthomatosis), polypeptide 1
1594113115 CYP27B1 Pseudovitamin D deficiency rickets 1 264700 10 12q13.1-q13.3 cytochrome P450, subfamily XXVIIB (25-hydroxyvitamin D-1-alpha-hydroxylase), polypeptide 1
1621313166 DBH Dopamine-beta-hydroxylase activity levels, plasma 223360 6 9q34 dopamine beta-hydroxylase (dopamine beta-monooxygenase)
1629113171 DBT Maple syrup urine disease, type II 248610 6 1p31 dihydrolipoamide branched chain transacylase (E2 component of branched chain keto acid dehydrogenase complex; maple syrup urine disease)
1630713176 DCC Colorectal cancer 120470 3 18q21.3 deleted in colorectal carcinoma
1641713193 DCX Subcortical laminal heteropia, X-linked 300121 3 Xq22.3-q23 doublecortex; lissencephaly, X-linked (doublecortin)
1674813346 DES Myopathy, desmin-related, cardioskeletal 125660 11 2q35 desmin
1687254722 DFNA5 Deafness, autosomal dominant 5 600994 7 7p15 deafness, autosomal dominant 5
1690312810 COCH Meniere disease 603196 3 14q12-q13 coagulation factor C homolog, cochlin (Limulus polyphemus)
1717313360 DHCR7 Smith-Lemli-Opitz syndrome, type II 602858 4 11q13.2-q13.5 7-dehydrocholesterol reductase
17275109754 DIA1 Methemoglobinemia, type II 250800 11 22q13.2-q13.31 diaphorase (NADH) (cytochrome b-5 reductase)
1729313367 DIAPH1 Deafness, autosomal dominant 1 602121 3 5q31 diaphanous homolog 1 (Drosophila)
1738213382 DLD Lipoamide dehydrogenase deficiency 246900 4 7q31-q32 dihydrolipoamide dehydrogenase (E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex)
17551412945 DMBT1 Medulloblastoma 601969 9 10q25.3-q26.1 deleted in malignant brain tumors 1
17561113405 DMD Cardiomyopathy, dilated, X-linked 300377 52 Xp21.2 dystrophin (muscular dystrophy, Duchenne and Becker types)
1760113400 DMPK Myotonic dystrophy 605377 14 19q13.3 dystrophia myotonica-protein kinase
1807564705 DPYS Dihydropyrimidinuria 222748 3 8q22 dihydropyrimidinase
1814213490 DRD3 ?Schizophrenia, susceptibility to 126451 12 3q13.3 dopamine receptor D3
1815213491 DRD4 Autonomic nervous system dysfunction 126452 6 11p15.5 dopamine receptor D4
18361013521 SLC26A2 Epiphyseal dysplasia, multiple 606718 2 5q31-q34 solute carrier family 26 (sulfate transporter), member 2
18611130931 DYT1 Dystonia, early-onset atypical, with myoclonic features 605204 4 9q34 dystonia 1, torsion (autosomal dominant; torsin A)
1890118592 ECGF1 Myoneurogastrointestinal encephalomyopathy syndrome 131222 4 22q13.33 endothelial cell growth factor 1 (platelet-derived)
1908313616 EDN3 Shah-Waardenburg syndrome 131242 5 20q13.2-q13.3 endothelin 3
1910813618 EDNRB ABCD syndrome 131244 8 13q22 endothelin receptor type B
1959313654 EGR2 Charcot-Marie-Tooth disease, type 1 129010 4 10q21.1 early growth response 2 (Krox-20 homolog, Drosophila)
1962274147 EHHADH Peroxisomal bifunctional enzyme deficiency 607037 2 3q26.3-q28 enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase
19961015572 ELAVL4 Neuropathy, paraneoplastic sensory 168360 3 1p34 ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D)
2023713806 ENO1 Enolase deficiency 172430 13 1p36.3-p36.2 enolase 1, (alpha)
20352113820 EPB41 Elliptocytosis-1 130500 6 1p33-p32 erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)
20381313828 EPB42 Spherocytosis, hereditary, Japanese type 177070 7 15q15-q21 erythrocyte membrane protein band 4.2
2055426889 CLN8 Epilepsy, progressive, with mental retardation 600143 7 8p23 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
2057113857 EPOR Erythrocytosis, familial 133171 8 19p13.3-p13.2 erythropoietin receptor
2068313871 ERCC2 Trichothiodystrophy 126340 5 19q13.3 excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)
2070214051 EYA4 Deafness, autosomal dominant 10 603550 2 6q23 eyes absent homolog 4 (Drosophila)
2071113872 ERCC3 Trichothiodystrophy 133510 3 2q21 excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing)
2072250505 ERCC4 Xeroderma pigmentosum, group F 133520 3 16p13.3-p13.11 excision repair cross-complementing rodent repair deficiency, complementation group 4
2073122592 ERCC5 Cerebrooculofacioskeletal syndrome 133530 5 13q22 excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))
207419108149 ERCC6 De Sanctis-Cacchione syndrome 133540 2 10q11 excision repair cross-complementing rodent repair deficiency, complementation group 6
20991313982 ESR1 Estrogen resistance 133430 5 6q25.1 estrogen receptor 1
21082110842 ETFA Glutaricaciduria, type IIA 231680 4 15q23-q25 electron-transfer-flavoprotein, alpha polypeptide (glutaric aciduria II)
21092110826 ETFB Glutaricaciduria, type IIB 130410 2 19q13.3 electron-transfer-flavoprotein, beta polypeptide
21105110807 ETFDH Glutaricaciduria, type IIC 231675 2 4q32-q35 electron-transferring-flavoprotein dehydrogenase
21202714011 ETV6 Leukemia, acute lymphoblastic 600618 7 12p13 ets variant gene 6 (TEL oncogene)
2121259056 EVC Weyers acrodental dysostosis 604831 5 4p16 Ellis van Creveld syndrome
2131214042 EXT1 Chondrosarcoma 133700 4 8q24.11-q24.13 exostoses (multiple) 1
2132314043 EXT2 Exostoses, multiple, type 2 133701 6 11p12-p11 exostoses (multiple) 2
2138214048 EYA1 Branchiootorenal syndrome with cataract 601653 4 8q13.3 eyes absent homolog 1 (Drosophila)
21531114067 F5 Thromboembolism susceptibility due to factor V Leiden 227400 6 1q23 coagulation factor V (proaccelerin, labile factor)
2155114068 F7 Myocardial infarction, decreased susceptibility to 227500 6 13q34 coagulation factor VII (serum prothrombin conversion accelerator)
21571114069 F8 Hemophilia A 306700 10 Xq28 coagulation factor VIII, procoagulant component (hemophilia A)
2158114071 F9 Warfarin sensitivity 306900 10 Xq27.1-q27.2 coagulation factor IX (plasma thromboplastic component, Christmas disease, hemophilia B)
21605109821 F11 Factor XI deficiency 264900 6 4q35 coagulation factor XI (plasma thromboplastin antecedent)
2161258992 F12 Factor XII deficiency 234000 11 5q33-qter coagulation factor XII (Hageman factor)
2165114060 F13B Factor XIIIB deficiency 134580 4 1q31-q32.1 coagulation factor XIII, B polypeptide
2175214087 FANCA Fanconi anemia, complementation group A 603468 6 16q24.3 Fanconi anemia, complementation group A
2176314088 FANCC Fanconi anemia, complementation group C 227645 4 9q22.3 Fanconi anemia, complementation group C
22001514118 FBN1 Marfan syndrome 134797 3 15q21.1 fibrillin 1 (Marfan syndrome)
22011514119 FBN2 Contractural arachnodactyly, congenital 121050 2 5q23-q31 fibrillin 2 (congenital contractural arachnodactyly)
2203114121 FBP1 Fructose-bisphosphatase deficiency 229700 11 9q22.3 fructose-1,6-bisphosphatase 1
2209114129 FCGR1A IgG receptor I, phagocytic, familial deficiency of 146760 4 1q21.2-q21.3 Fc fragment of IgG, high affinity Ia, receptor for (CD64)
2212314130 FCGR2A Lupus nephritis, susceptibility to 146790 3 1q23 Fc fragment of IgG, low affinity IIa, receptor for (CD32)
2213314130 FCGR2B Lymphoma, progression of 604590 3 1q23 Fc fragment of IgG, low affinity IIb, receptor for (CD32)
2214314131 FCGR3A Lupus erythematosus, systemic, susceptibility 146740 7 1q23 Fc fragment of IgG, low affinity IIIa, receptor for (CD16)
22182230193 FCMD Muscular dystrophy, Fukuyama congenital 253800 3 9q31-q33 Fukuyama type congenital muscular dystrophy (fukutin)
2235314151 FECH Protoporphyria, erythropoietic, recessive, with liver failure 177000 3 18q21.3 ferrochelatase (protoporphyria)
22442110135 FGB Thrombophilia, dysfibrinogenemic 134830 6 4q28 fibrinogen, B beta polypeptide
2245814163 FGD1 Aarskog-Scott syndrome 305400 2 Xp11.21 faciogenital dysplasia (Aarskog-Scott syndrome)
22602514182 FGFR1 Pfeiffer syndrome 136350 29 8p11.2-p11.1 fibroblast growth factor receptor 1 (fms-related tyrosine kinase 2, Pfeiffer syndrome)
22612214184 FGFR3 Colorectal cancer, somatic 134934 10 4p16.3 fibroblast growth factor receptor 3 (achondroplasia, thanatophoric dwarfism)
22632114183 FGFR2 Craniosynostosis, nonspecific 176943 32 10q26 fibroblast growth factor receptor 2 (bacteria-expressed kinase, keratinocyte growth factor receptor, craniofacial dysostosis 1, Crouzon syndrome, Pfeiffer syndrome, Jackson-Weiss syndrome)
2266214188 FGG Thrombophilia, dysfibrinogenemic 134850 11 4q28 fibrinogen, gamma polypeptide
2271114194 FH Multiple cutaneous and uterine leiomyomata, 136850 6 1q42.1 fumarate hydratase
2296117300 FOXC1 Iridogoniodysgenesis 601090 5 6p25 forkhead box C1
2308356458 FOXO1A Rhabdomyosarcoma, alveolar 136533 4 13q14.1 forkhead box O1A (rhabdomyosarcoma)
2316614249 FLNA Heterotopia, periventricular 300017 4 Xq28 filamin A, alpha (actin binding protein 280)
23241314257 FLT4 Hemangioma, capillary infantile, somatic 136352 3 5q34-q35 fms-related tyrosine kinase 4
2328214262 FMO3 Fish-odor syndrome 136132 5 1q23-q25 flavin containing monooxygenase 3
2332514265 FMR1 Fragile X syndrome 309550 10 Xq27.3 fragile X mental retardation 1
2492514309 FSHR Twinning, dizygotic 136435 3 2p21-p16 follicle stimulating hormone receptor
2512814325 FTL Basal ganglia disease, adult-onset 134790 7 19q13.3-q13.4 ferritin, light polypeptide
251710109714 FUCA1 Fucosidosis 230000 4 1p34 fucosidase, alpha-L- 1, tissue
2531170750 FVT1 Lymphoma/leukemia, B-cell, variant 136440 3 18q21.3 follicular lymphoma variant translocation 1
2538314377 G6PC Glycogen storage disease I 232200 3 17q21 glucose-6-phosphatase, catalytic (glycogen storage disease type I, von Gierke disease)
2539414381 G6PD G6PD deficiency 305900 12 Xq28 glucose-6-phosphate dehydrogenase
2542114385 G6PT1 Glycogen storage disease Ic 602671 9 11q23.3 glucose-6-phosphatase, transport (glucose-6-phosphate) protein 1
2548914387 GAA Glycogen storage disease II 606800 5 17q25.2-q25.3 glucosidase, alpha; acid (Pompe disease, glycogen storage disease type II)
2581214420 GALC Krabbe disease 606890 6 14q31 galactosylceramidase (Krabbe disease)
2582174246 GALE Galactose epimerase deficiency 606953 5 1p36-p35 galactose-4-epimerase, UDP-
2584414635 GALK1 Galactokinase deficiency with cataracts 604313 5 17q24 galactokinase 1
2588450917 GALNS Mucopolysaccharidosis IVA 253000 3 16q24.3 galactosamine (N-acetyl)-6-sulfate sulfatase (Morquio syndrome, mucopolysaccharidosis type IVA)
2592114430 GALT Galactosemia 606999 21 9p13 galactose-1-phosphate uridylyltransferase
2629114466 GBA Gaucher disease 606463 7 1q21 glucosidase, beta; acid (includes glucosylceramidase)
2632374185 GBE1 Glycogen storage disease IV 232500 2 3p12.3 glucan (1,4-alpha-), branching enzyme 1 (glycogen branching enzyme, Andersen disease, glycogen storage disease type IV)
2639214488 GCDH Glutaricaciduria, type I 231670 7 19p13.2 glutaryl-Coenzyme A dehydrogenase
2641114526 GCG ?Hyperproglucagonemia 138030 5 2q36-q37 glucagon
2642914527 GCGR Diabetes mellitus, noninsulin-dependent 138033 3 17q25 glucagon receptor
2651614538 GCNT2 Ii blood group 600429 4 6p24 glucosaminyl (N-acetyl) transferase 2, I-branching enzyme
2652214539 OPN1MW Colorblindness, deutan 303800 2 Xq28 opsin 1 (cone pigments), medium-wave-sensitive (color blindness, deutan)
26641214567 GDI1 Mental retardation, X-linked nonspecific 300104 7 Xq28 GDP dissociation inhibitor 1
2678414598 GGT1 Glutathioninuria 231950 20 22q11.23 gamma-glutamyltransferase 1
26791110088 GGT2 Gamma-glutamyltransferase, familial high serum 137181 2 22q11.23 gamma-glutamyltransferase 2
2688714599 GH1 Isolated growth hormone deficiency, Illig type with absent GH and Kowarski type with bioinactive GH 139250 13 17q24.2 growth hormone 1
2692914602 GHRHR Growth hormone deficient dwarfism 139191 9 7p14 growth hormone releasing hormone receptor
2694114603 GIF Anemia, pernicious, congenital, due to deficiency of intrinsic factor 261000 3 11q13 gastric intrinsic factor (vitamin B synthesis)
2700414611 GJA3 Cataract, zonular pulverulent-3 121015 3 13q11-q12 gap junction protein, alpha 3, 46kDa (connexin 46)
2703414616 GJA8 Cataract, zonular pulverulent-1 600897 2 1q21.1 gap junction protein, alpha 8, 50kDa (connexin 50)
2705614618 GJB1 Charcot-Marie-Tooth neuropathy, X-linked-1, dominant 304040 4 Xq13.1 gap junction protein, beta 1, 32kDa (connexin 32, Charcot-Marie-Tooth neuropathy, X-linked)
2706814619 GJB2 Vohwinkel syndrome 121011 5 13q11-q12 gap junction protein, beta 2, 26kDa (connexin 26)
2707314620 GJB3 Deafness, autosomal dominant, with peripheral neuropathy 603324 6 1p34 gap junction protein, beta 3, 31kDa (connexin 31)
2710714933 GK Hyperglycerolemia 307030 5 Xp21.3 glycerol kinase
2717311605 GLA Fabry disease 301500 7 Xq22 galactosidase, alpha
2719314734 GPC3 Simpson-Golabi-Behmel syndrome, type 1 300037 7 Xq26.1 glypican 3
2720912091 GLB1 GM1-gangliosidosis 230500 6 3p21.33 galactosidase, beta 1
27315104174 GLDC Glycine encephalopathy 238300 4 9p22 glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein P)
2737114634 GLI3 Polydactyly, postaxial, types A1 and B 165240 3 7p13 GLI-Kruppel family member GLI3 (Greig cephalopolysyndactyly syndrome)
27412814654 GLRA1 Startle disease/hyperekplexia, autosomal dominant 138491 3 5q32 glycine receptor, alpha 1 (startle disease/hyperekplexia, stiff man syndrome)
2746214661 GLUD1 Hyperinsulinism-hyperammonemia syndrome 138130 6 10q23.3 glutamate dehydrogenase 1
27711014678 GNAI2 Ventricular tachycardia, idiopathic 139360 4 3p21 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2
27761014682 GNAQ Bleeding diathesis due to GNAQ deficiency 600998 3 9q21 guanine nucleotide binding protein (G protein), q polypeptide
27781214683 GNAS Osseous heteroplasia, progressive 139320 26 20q13.2-q13.3 GNAS complex locus
27791014685 GNAT1 Night blindness, congenital stationary 139330 2 3p21 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1
2784514695 GNB3 Hypertension, essential, susceptibility to 139130 10 12p13 guanine nucleotide binding protein (G protein), beta polypeptide 3
2820114571 GPD2 Diabetes mellitus, noninsulin-dependent 138430 4 2q24.1 glycerol-3-phosphate dehydrogenase 2 (mitochondrial)
2821214751 GPI Hemolytic anemia due to glucosephosphate isomerase deficiency 172400 4 19q13.1 glucose phosphate isomerase
2876414775 GPX1 Hemolytic anemia due to glutathione peroxidase deficiency 138320 4 3p21.3 glutathione peroxidase 1
2887414783 GRB10 601523 9 7p12-p11.2 growth factor receptor-bound protein 10
2908214815 NR3C1 Cortisol resistance 138040 10 5q31 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
2934414851 GSN Amyloidosis, Finnish type 137350 3 9q33 gelsolin (amyloidosis, Finnish type)
2936714782 GSR Hemolytic anemia due to glutathione reductase deficiency 138300 3 8p21.1 glutathione reductase
2937114854 GSS 5-oxoprolinuria 601002 4 20q11.2 glutathione synthetase
2956217688 MSH6 Colorectal cancer, hereditary nonpolyposis, type 5 600678 5 2p16 mutS homolog 6 (E. coli)
2990214927 GUSB Mucopolysaccharidosis VII 253220 2 7q21.11 glucuronidase, beta
2997214936 GYS1 Diabetes mellitus, noninsulin-dependent 138570 5 19q13.3 glycogen synthase 1 (muscle)
3029414651 HAGH Glyoxalase II deficiency 138760 5 16p13.3 hydroxyacyl glutathione hydrolase
3034415109 HAL Histidinemia 235800 2 12q22-q24.1 histidine ammonia-lyase
30402715122 HBA2 Hemoglobin H disease 141850 12 16p13.3 hemoglobin, alpha 2
30434815127 HBB Thalassemias, beta- 141900 42 11p15.5 hemoglobin, beta
30454715129 HBD Thalassemia, delta- 142000 3 11p15.5 hemoglobin, delta
30474615132 HBG1 HPFH, nondeletion type A 142200 13 11p15.5 hemoglobin, gamma A
3064215194 HD Huntington disease 143100 5 4p16.3 huntingtin (Huntington disease)
3073515211 HEXA GM2-gangliosidosis, several forms 606869 5 15q23-q24 hexosaminidase A (alpha polypeptide)
3074515212 HEXB Sandhoff disease, infantile, juvenile, and adult forms 606873 6 5q13 hexosaminidase B (beta polypeptide)
3075412628 HF1 Factor H deficiency 134370 4 1q32 H factor 1 (complement)
3077215216 HFE Porphyria variegata 235200 22 6p21.3 hemochromatosis
3081215233 HGD Alkaptonuria 203500 5 3q21-q23 homogentisate 1,2-dioxygenase (homogentisate oxidase)
31411110948 HLCS Multiple carboxylase deficiency, biotin-responsive 253270 3 21q22.13 holocarboxylase synthetase (biotin-[proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase)
3145115288 HMBS Porphyria, acute intermittent, nonerythroid variant 176000 6 11q23.3 hydroxymethylbilane synthase
3155115356 HMGCL HMG-CoA lyase deficiency 246450 4 1p36.1-p35 3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase (hydroxymethylglutaricaciduria)
3158715360 HMGCS2 HMG-CoA synthase-2 deficiency 600234 5 1p13-p12 3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 (mitochondrial)
3209115398 HOXA13 Guttmacher syndrome 142959 2 7p15-p14 homeo box A13
3239115433 HOXD13 Synpolydactyly, type II 142989 2 2q31 homeo box D13
3251315452 HPRT1 Lesch-Nyhan syndrome 308000 5 Xq26.1 hypoxanthine phosphoribosyltransferase 1 (Lesch-Nyhan syndrome)
32572192236 HPS1 Hermansky-Pudlak syndrome 604982 5 10q23.1-q23.3 Hermansky-Pudlak syndrome 1
3265215461 HRAS Bladder cancer 190020 3 11p15.5 v-Ha-ras Harvey rat sarcoma viral oncogene homolog
3284115492 HSD3B2 3-beta-hydroxysteroid dehydrogenase, type II, deficiency 201810 3 1p13.1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
3293415487 HSD17B3 Pseudohermaphroditism, male, with gynecomastia 605573 2 9q22 hydroxysteroid (17-beta) dehydrogenase 3
3295215488 HSD17B4 D-bifunctional protein deficiency 601860 4 5q21 hydroxysteroid (17-beta) dehydrogenase 4
3373915586 HYAL1 Mucopolysaccharidosis type IX 607071 8 3p21.3-p21.2 hyaluronoglucosaminidase 1
3423115931 IDS Mucopolysaccharidosis II 309900 10 Xq28 iduronate 2-sulfatase (Hunter syndrome)
3425215932 IDUA Mucopolysaccharidosis Ih/s 252800 3 4p16.3 iduronidase, alpha-L-
3459115979 IFNGR1 Mycobacterial infection, atypical, familial disseminated 107470 4 6q23-q24 interferon gamma receptor 1
3479216000 IGF1 Growth retardation with deafness and mental retardation 147440 17 12q22-q23 insulin-like growth factor 1 (somatomedin C)
3482216004 IGF2R Hepatocellular carcinoma 147280 5 6q26 insulin-like growth factor 2 receptor
3507516019 IGHM Agammaglobulinemia 147020 4 14q32.33 immunoglobulin heavy constant mu
3514116071 IGKC Kappa light chain deficiency 147200 3 2p12 immunoglobulin kappa constant
3559216184 IL2RA Interleukin-2 receptor, alpha chain, deficiency of 147730 7 10p15-p14 interleukin 2 receptor, alpha
3566316190 IL4R Atopy, susceptibility to 147781 3 16p11.2-12.1 interleukin 4 receptor
3575416197 IL7R Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type 146661 2 5p13 interleukin 7 receptor
36432316337 INSR Leprechaunism 147670 8 19p13.3-p13.2 insulin receptor
3651118609 IPF1 Pancreatic agenesis 600733 5 13q12.1 insulin promoter factor 1, homeodomain transcription factor
3655616403 ITGA6 Epidermolysis bullosa, junctional, with pyloric stenosis 147556 6 2q31.1 integrin, alpha 6
3667116367 IRS1 Diabetes mellitus, noninsulin-dependent 147545 2 2q36 insulin receptor substrate 1
3673716398 ITGA2 Neonatal alloimmune thrombocytopenia 192974 4 5q23-q31 integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)
3674216399 ITGA2B Thrombocytopenia, neonatal alloimmune 273800 11 17q21.32 integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)
3679416404 ITGA7 Myopathy, congenital 600536 7 12q13 integrin, alpha 7
36891316414 ITGB2 Leukocyte adhesion deficiency 600065 5 21q22.3 integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)
36901516416 ITGB3 Glanzmann thrombasthenia, type B 173470 12 17q21.32 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
36911116417 ITGB4 Epidermolysis bullosa, junctional, with pyloric atresia 147557 6 17q11-qter integrin, beta 4
3704216434 ITPA Inosine triphosphatase deficiency 147520 5 20p inosine triphosphatase (nucleoside triphosphate pyrophosphatase)
37121556357 IVD Isovalericacidemia 243500 5 15q14-q15 isovaleryl Coenzyme A dehydrogenase
3718316453 JAK3 SCID, autosomal recessive, T-negative/B-positive type 600173 7 19p13.1 Janus kinase 3 (a protein tyrosine kinase, leukocyte)
3736616485 KCNA1 Episodic ataxia/myokymia syndrome 176260 2 12p13 potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)
3753216509 KCNE1 Long QT syndrome-5 176261 4 21q22.12 potassium voltage-gated channel, Isk-related family, member 1
3757516511 KCNH2 Long QT syndrome-2 152427 5 7q35-q36 potassium voltage-gated channel, subfamily H (eag-related), member 2
37582256379 KCNJ1 Bartter syndrome, antenatal 600359 8 11q24 potassium inwardly-rectifying channel, subfamily J, member 1
37672216514 KCNJ11 Persistent hyperinsulinemic hypoglycemia of infancy 600937 2 11p15.1 potassium inwardly-rectifying channel, subfamily J, member 11
3784116535 KCNQ1 Long QT syndrome-1 192500 4 11p15.5 potassium voltage-gated channel, KQT-like subfamily, member 1
3785316536 KCNQ2 Myokymia with neonatal epilepsy 602235 5 20q13.3 potassium voltage-gated channel, KQT-like subfamily, member 2
37861110862 KCNQ3 Epilepsy, benign neonatal, type 2 602232 3 8q24 potassium voltage-gated channel, KQT-like subfamily, member 3
3795316548 KHK Fructosuria 229800 8 2p23.3-p23.2 ketohexokinase (fructokinase)
38151116590 KIT Mast cell leukemia 164920 9 4q11-q12 v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
3818516621 KLKB1 Fletcher factor deficiency 229000 3 4q34-q35 kallikrein B, plasma (Fletcher factor) 1
3827116644 KNG Kininogen deficiency 228960 4 3q27 kininogen
3845216653 KRAS2 Colorectal adenoma 190070 10 12p12.1 v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog
38491616681 KRT2A Ichthyosis bullosa of Siemens 600194 4 12q11-q13 keratin 2A (epidermal ichthyosis bullosa of Siemens)
38511616682 KRT4 White sponge nevus 123940 7 12q12-q13 keratin 4
385220106035 KRT5 Epidermolysis bullosa simplex with mottled pigmentation 148040 7 12q12-q13 keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)
38531716687 KRT6A Pachyonychia congenita, Jadassohn-Lewandowsky type 148041 6 12q12-q13 keratin 6A
38582416661 KRT10 Epidermolytic hyperkeratosis 148080 5 17q21-q23 keratin 10 (epidermolytic hyperkeratosis; keratosis palmaris et plantaris)
38592516662 KRT12 Meesmann corneal dystrophy 601687 3 17q12 keratin 12 (Meesmann corneal dystrophy)
38602516663 KRT13 White sponge nevus 148065 5 17q21-q23 keratin 13
38612616664 KRT14 Epidermolysis bullosa simplex, Koebner, Dowling-Meara, and Weber-Cockayne types, 131900, 131760 148066 6 17q12-q21 keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)
38682516666 KRT16 Pachyonychia congenita, Jadassohn-Lewandowsky type 148067 2 17q12-q21 keratin 16 (focal non-epidermolytic palmoplantar keratoderma)
38722616667 KRT17 Pachyonychia congenita, Jackson-Lawler type 148069 5 17q12-q21 keratin 17
38752216668 KRT18 ?Liver disease, susceptibility to, from hepatotoxins or viruses 148070 14 12q13 keratin 18
38871664818 KRTHB1 Monilethrix 602153 7 12q13 keratin, hair, basic, 1
38921616679 KRTHB6 Monilethrix 601928 4 12q13 keratin, hair, basic, 6 (monilethrix)
3897816728 L1CAM Spastic paraplegia 308840 10 Xq28 L1 cell adhesion molecule (hydrocephalus, stenosis of aqueduct of Sylvius 1, MASA (mental retardation, aphasia, shuffling gait and adducted thumbs) syndrome, spastic paraplegia 1)
3908816773 LAMA2 Muscular dystrophy, congenital merosin-deficient 156225 4 6q22-q23 laminin, alpha 2 (merosin, congenital muscular dystrophy)
3909216774 LAMA3 Epidermolysis bullosa, generalized atrophic benign 600805 5 18q11.2 laminin, alpha 3
3914216780 LAMB3 Epidermolysis bullosa, generalized atrophic benign 150310 4 1q32 laminin, beta 3
3931216816 LCAT Fish-eye disease 606967 7 16q22.1 lecithin-cholesterol acyltransferase
39323516818 LCK SCID due to LCK deficiency 153390 6 1p34.3 lymphocyte-specific protein tyrosine kinase
3939516828 LDHA Exertional myoglobinuria due to deficiency of LDH-A 150000 5 11p15.4 lactate dehydrogenase A
3945516832 LDHB Lactate dehydrogenase-B deficiency 150100 6 12p12.2-p12.1 lactate dehydrogenase B
39491316835 LDLR Hypercholesterolemia, familial 606945 6 19p13.3 low density lipoprotein receptor (familial hypercholesterolemia)
3952116846 LEP Obesity, severe, due to leptin deficiency 164160 8 7q31.3 leptin (obesity homolog, mouse)
3973516867 LHCGR Micropenis 152790 5 2p21 luteinizing hormone/choriogonadotropin receptor
3978116881 LIG1 DNA ligase I deficiency 126391 2 19q13.2-q13.3 ligase I, DNA, ATP-dependent
39885116889 LIPA Wolman disease 278000 7 10q23.2-q23.3 lipase A, lysosomal acid, cholesterol esterase (Wolman disease)
3990615450 LIPC Hepatic lipase deficiency 151670 9 15q21-q23 lipase, hepatic
3998170361 LMAN1 Combined factor V and VIII deficiency 601567 3 18q21.3-q22 lectin, mannose-binding, 1
4000316905 LMNA Muscular dystrophy, limb-girdle, type 1B 150330 7 1q21.2-q21.3 lamin A/C
40041109594 LMO1 Leukemia, T-cell acute lymphoblastic 186921 2 11p15 LIM domain only 1 (rhombotin 1)
4005116909 LMO2 Leukemia, acute T-cell 180385 2 11p13 LIM domain only 2 (rhombotin-like 1)
4010116917 LMX1B Nail-patella syndrome with open-angle glaucoma 602575 4 9q34 LIM homeobox transcription factor 1, beta
4015516948 LOX Cutis laxa, recessive, type I 153455 5 5q23.2 lysyl oxidase
4023616956 LPL Chylomicronemia syndrome, familial 238600 6 8p22 lipoprotein lipase
4041916973 LRP5 Bone mineral density variability 1 603506 5 11q13.4 low density lipoprotein receptor-related protein 5
40531516997 LTBP2 602091 3 14q24 latent transforming growth factor beta binding protein 2
4066117095 LYL1 Leukemia, T-cell acute lymphoblastoid 151440 6 19p13.2 lymphoblastic leukemia derived sequence 1
4068120400 SH2D1A Lymphoproliferative syndrome, X-linked 308240 10 Xq25-q26 SH2 domain protein 1A, Duncan's disease (lymphoproliferative syndrome)
4069217105 LYZ Amyloidosis, renal 153450 7 12q13.2 lysozyme (renal amyloidosis)
4070356753 TACSTD2 Corneal dystrophy, gelatinous drop-like 137290 4 1p32-p31 tumor-associated calcium signal transducer 2
4089117128 MADH4 Pancreatic cancer 600993 4 18q21.1 MAD, mothers against decapentaplegic homolog 4 (Drosophila)
4125817159 MAN2B1 Mannosidosis, alpha-, types I and II 248500 5 19cen-q13.1 mannosidase, alpha, class 2B, member 1
41263110173 MANBA Mannosidosis, beta- 248510 2 4q22-q25 mannosidase, beta A, lysosomal
4128417161 MAOA Brunner syndrome 309850 7 Xp11.4-p11.3 monoamine oxidase A
4137217762 MAPT Pallidopontonigral degeneration 157140 10 17q21.1 microtubule-associated protein tau
4143311720 MAT1A Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency 250850 4 10q22 methionine adenosyltransferase I, alpha
4153017194 17195 MBL2 Chronic infections, due to opsonin defect 154545 4 10q11.2-q21 mannose-binding lectin (protein C) 2, soluble (opsonic defect)
4157117199 MC1R Red hair/fair skin 155555 2 16q24.3 melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
4158217200 MC2R Glucocorticoid deficiency, due to ACTH unresponsiveness 202200 2 18p11.2 melanocortin 2 receptor (adrenocorticotropic hormone)
41631110118 MCC Colorectal cancer 159350 3 5q21-q22 mutated in colorectal cancers
4166256773 CHST6 Macular corneal dystrophy 605294 3 16q22 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6
4179117221 MCP Measles, susceptibility to 120920 6 1q32 membrane cofactor protein (CD46, trophoblast-lymphocyte cross-reactive antigen)
4204217257 MECP2 Angelman syndrome 300005 11 Xq28 methyl CpG binding protein 2 (Rett syndrome)
4210554483 MEFV Familial Mediterranean fever 249100 4 16p13.3 Mediterranean fever
4233317295 MET Renal cell carcinoma, papillary, familial and sporadic 164860 9 7q31 met proto-oncogene (hepatocyte growth factor receptor)
4261112265 MHC2TA MHC class II deficiency, complementation group A 600005 3 16p13 MHC class II transactivator
4286317342 MITF Tietz syndrome 156845 7 3p14.1-p12.3 microphthalmia-associated transcription factor
4287276702 MJD Machado-Joseph disease 607047 7 14q24.3-q32.2 Machado-Joseph disease (spinocerebellar ataxia 3, olivopontocerebellar ataxia 3, autosomal dominant, ataxin 3)
4291117349 MLF1 Leukemia, myeloid, acute 601402 3 3q25.1 myeloid leukemia factor 1
4292217350 MLH1 Cafe-au-lait spots with glioma or leukemia 120436 8 3p21.3 mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)
4297217353 MLL Leukemia, myeloid/lymphoid or mixed-lineage 159555 3 11q23 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)
4338217434 MOCS2 Molybdenum cofactor deficiency, type B 603708 3 5q11 molybdenum cofactor synthesis 2
43512110119 MPI Carbohydrate-deficient glycoprotein syndrome, type Ib 154550 2 15q22-qter mannose phosphate isomerase
4353217523 MPO Myeloperoxidase deficiency 606989 12 17q23.1 myeloperoxidase
4359117528 MPZ Dejerine-Sottas disease, myelin P-zero-related 159440 5 1q22 myelin protein zero (Charcot-Marie-Tooth neuropathy 1B)
4436217685 MSH2 Cafe-au-lait spots, multiple, with leukemia 120435 15 2p22-p21 mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)
4437617686 MSH3 Endometrial carcinoma 600887 3 5q11-q12 mutS homolog 3 (E. coli)
4487217701 MSX1 Witkop syndrome 142983 4 4p16.3-p16.1 msh homeo box homolog 1 (Drosophila)
4488117702 MSX2 Parietal foramina 1 123101 7 5q34-q35 msh homeo box homolog 2 (Drosophila)
4524217769 MTHFR Homocystinuria due to MTHFR deficiency 607093 4 1p36.3 5,10-methylenetetrahydrofolate reductase (NADPH)
45341317772 MTM1 Myotubular myopathy, X-linked 310400 3 Xq28 myotubular myopathy 1
4547117777 MTP Abetalipoproteinemia 157147 4 4q24 microsomal triglyceride transfer protein (large polypeptide, 88kDa)
4548217774 MTR Methylcobalamin deficiency, cbl G type 156570 4 1q43 5-methyltetrahydrofolate-homocysteine methyltransferase
4591472353 TRIM37 Mulibrey nanism 605073 2 17q22-q23 tripartite motif-containing 37
4598217855 MVK Hyper-IgD syndrome 251170 4 12q24 mevalonate kinase (mevalonic aciduria)
4607417868 MYBPC3 Cardiomyopathy, familial hypertrophic, 4 600958 6 11p11.2 myosin binding protein C, cardiac
4609117869 MYC Burkitt lymphoma 190080 9 8q24.12-q24.13 v-myc myelocytomatosis viral oncogene homolog (avian)
462526140781 MYH7 Cardiomyopathy, familial hypertrophic, 1 160760 13 14q12 myosin, heavy polypeptide 7, cardiac muscle, beta
4633317906 MYL2 Cardiomyopathy, hypertrophic, mid-left ventricular chamber type 160781 7 12q23-q24.3 myosin, light polypeptide 2, regulatory, cardiac, slow
4634517897 MYL3 Cardiomopathy, hypertrophic, mid-ventricular chamber type 160790 8 3p21.3-p21.2 myosin, light polypeptide 3, alkali; ventricular, skeletal, slow
46442617918 MYO5A Griscelli syndrome-type pigmentary dilution with mental retardation 160777 4 15q21 myosin VA (heavy polypeptide 12, myoxin)
46472317921 MYO7A Deafness, autosomal recessive 2, neurosensory 276903 2 11q13.5 myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))
4653117926 MYOC Glaucoma 1A, primary open angle, juvenile-onset 601652 7 1q23-q24 myocilin, trabecular meshwork inducible glucocorticoid response
4668317939 NAGA Schindler disease 104170 6 22q11 N-acetylgalactosaminidase, alpha-
4669127419 NAGLU Sanfilippo syndrome, type B 252920 6 17q21 N-acetylglucosaminidase, alpha- (Sanfilippo disease IIIB)
4683127354 NBS1 Leukemia, acute lymphoblastic 602667 6 8q21-q24 Nijmegen breakage syndrome 1 (nibrin)
4687117969 NCF1 Chronic granulomatous disease due to deficiency of NCF-1 233700 6 7q11.23 neutrophil cytosolic factor 1 (47kDa, chronic granulomatous disease, autosomal 1)
4688117970 NCF2 Chronic granulomatous disease due to deficiency of NCF-2 233710 3 1q25 neutrophil cytosolic factor 2 (65kDa, chronic granulomatous disease, autosomal 2)
4703217996 NEB Nemaline myopathy 2, autosomal recessive 161650 7 2q22 nebulin
4723217995 NDUFV1 Alexander disease 161015 4 11q13 NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa
4724217993 NDUFS4 Complex I deficiency 602694 3 5q11.1 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
4758118010 NEU1 Sialidosis, type II 256550 4 6p21.3 sialidase 1 (lysosomal sialidase)
4763318015 NF1 Watson syndrome 162200 19 17q11.2 neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease)
4771818016 NF2 Schwannoma, sporadic 101000 6 22q12.2 neurofibromin 2 (bilateral acoustic neuroma)
4830418102 NME1 Neuroblastoma 156490 7 17q21.3 non-metastatic cells 1, protein (NM23A) expressed in
4846118127 NOS3 Coronary spasm, susceptibility to 163729 3 7q36 nitric oxide synthase 3 (endothelial cell)
48511218128 NOTCH1 Leukemia, T-cell acute lymphoblastic 190198 2 9q34.3 Notch homolog 1, translocation-associated (Drosophila)
48541118131 NOTCH3 Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 600276 5 19p13.2-p13.1 Notch homolog 3 (Drosophila)
4860218950 NP Nucleoside phosphorylase deficiency, immunodeficiency due to 164050 4 14q13.1 nucleoside phosphorylase
4864118145 NPC1 Niemann-Pick disease, type C1 257220 2 18q11-q12 Niemann-Pick disease, type C1
4869518148 NPM1 Leukemia, acute promyelocytic, NPM/RARA type 164040 17 5q35 nucleophosmin (nucleolar phosphoprotein B23, numatrin)
4893218176 NRAS Colorectal cancer 164790 9 1p13.2 neuroblastoma RAS viral (v-ras) oncogene homolog
4901318185 NRL Retinitis pigmentosa, autosomal dominant 162080 4 14q11.1-q11.2 neural retina leucine zipper
4902118188 NRTN Hirschsprung disease 602018 3 19p13.3 neurturin
49143118211 NTRK1 Insensitivity to pain, congenital, with anhidrosis 191315 7 1q21-q22 neurotrophic tyrosine kinase, receptor, type 1
49201426564 ROR2 Robinow syndrome, autosomal recessive 602337 2 9q22 receptor tyrosine kinase-like orphan receptor 2
4935118241 OA1 Ocular albinism, Nettleship-Falls type 300500 3 Xp22.3 ocular albinism 1 (Nettleship-Falls)
4948218431 OCA2 Albinism, ocular, autosomal recessive 203200 5 15q11.2-q12 oculocutaneous albinism II (pink-eye dilution homolog, mouse)
49528107544 OCRL Lowe syndrome 309000 7 Xq25-q26.1 oculocerebrorenal syndrome of Lowe
4967318293 OGDH Alpha-ketoglutarate dehydrogenase deficiency 203740 4 7p14-p13 oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)
4976712219 OPA1 Glaucoma, normal tension, susceptibility to 605290 10 3q28-q29 optic atrophy 1 (autosomal dominant)
49831194190 OPHN1 Mental retardation, X-linked, 60 300127 4 Xq12 oligophrenin 1
5002118400 SLC22A1L Rhabdomyosarcoma 602631 6 11p15.5 solute carrier family 22 (organic cation transporter), member 1-like
5009118416 OTC Ornithine transcarbamylase deficiency 311250 7 Xp21.1 ornithine carbamoyltransferase
5019564059 OXCT Ketoacidosis due to SCOT deficiency 245050 4 5p13 3-oxoacid CoA transferase
5054518787 SERPINE1 Thrombophilia due to excessive plasminogen activator inhibitor 173360 8 7q21.3-q22 serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
50631118481 PAK3 Mental retardation, X-linked 30 300142 2 Xq22.3-q23 p21 (CDKN1A)-activated kinase 3
5076518504 PAX2 Optic nerve coloboma with renal disease 167409 10 10q22.1-q24.3 paired box gene 2
5077918505 PAX3 Craniofacial-deafness-hand syndrome 193500 12 2q35 paired box gene 3 (Waardenburg syndrome 1)
5080518508 PAX6 Eye anomalies, multiplex 607108 9 11p13 paired box gene 6 (aniridia, keratitis)
5081618509 PAX7 Rhabdomyosarcoma, alveolar 167410 7 1p36.2-p36.12 paired box gene 7
5087218514 PBX1 Leukemia, acute pre-B-cell 176310 2 1q23 pre-B-cell leukemia transcription factor 1
5091518563 PC Pyruvate carboxylase deficiency 266150 8 11q13.4-q13.5 pyruvate carboxylase
5092113180 PCBD Hyperphenylalaninemia due to pterin-4a-carbinolamine dehydratase deficiency 126090 8 10q22 6-pyruvoyl-tetrahydropterin synthase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1)
50954110821 PCCA Propionicacidemia 232000 6 13q32 propionyl Coenzyme A carboxylase, alpha polypeptide
5096266904 PCCB Propionicacidemia 232050 3 3q21-q22 propionyl Coenzyme A carboxylase, beta polypeptide
51041018533 SERPINA5 Protein C inhibitor deficiency 601841 4 14q32.1 serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5
5122218548 PCSK1 Obestiy with impaired prohormone processing 162150 5 5q15-q21 proprotein convertase subtilisin/kexin type 1
5145418586 PDE6A Retinitis pigmentosa, autosomal recessive 180071 3 5q31.2-q34 phosphodiesterase 6A, cGMP-specific, rod, alpha
5158318587 PDE6B Night blindness, congenital stationary, type 3 180072 5 4p16.3 phosphodiesterase 6B, cGMP-specific, rod, beta (congenital stationary night blindness 3, autosomal dominant)
5160218597 PDHA1 Pyruvate dehydrogenase deficiency 312170 10 Xp22.2-p22.1 pyruvate dehydrogenase (lipoamide) alpha 1
5172923985 SLC26A4 Pendred syndrome 605646 3 7q31 solute carrier family 26, member 4
5184118624 PEPD Prolidase deficiency 170100 5 19q12-q13.2 peptidase D
5189871382 PEX1 Adrenoleukodystrophy, neonatal 602136 6 7q21-q22 peroxisome biogenesis factor 1
5191218634 PEX7 Rhizomelic chondrodysplasia punctata, type 1 601757 4 6q21-q22.2 peroxisomal biogenesis factor 7
52111218641 PFKL Hemolytic anemia due to phosphofructokinase deficiency 171860 6 21q22.3 phosphofructokinase, liver
52131318642 PFKM Glycogen storage disease VII 232800 7 12q13.3 phosphofructokinase, muscle
5224656012 PGAM2 Myopathy due to phosphoglycerate mutase deficiency 261670 4 7p13-p12 phosphoglycerate mutase 2 (muscle)
5230118655 PGK1 Myoglobinuria/hemolysis due to PGK deficiency 311800 5 Xq13 phosphoglycerate kinase 1
52431518669 ABCB1 Colchicine resistance 171050 9 7q21.1 ATP-binding cassette, sub-family B (MDR/TAP), member 1
52441418671 ABCB4 Cholestasis, progressive familial intrahepatic, type III 171060 6 7q21.1 ATP-binding cassette, sub-family B (MDR/TAP), member 4
5245418673 PHB Breast cancer, sporadic 176705 4 17q21 prohibitin
5251618675 PHEX Hypophosphatemia, hereditary 307800 5 Xp22.2-p22.1 phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)
5255618679 PHKA1 Muscle glycogenosis 311870 2 Xq12-q13 phosphorylase kinase, alpha 1 (muscle)
52565110094 PHKA2 Glycogenosis, X-linked hepatic, type II 306000 3 Xp22.2-p22.1 phosphorylase kinase, alpha 2 (liver)
5261268961 PHKG2 Glycogenosis, hepatic, autosomal 172471 4 16p12.1-p11.2 phosphorylase kinase, gamma 2 (testis)
52651720699 SERPINA1 Emphysema-cirrhosis 107400 6 14q32.1 serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
5277318700 PIGA Paroxysmal nocturnal hemoglobinuria 311770 6 Xp22.1 phosphatidylinositol glycan, class A (paroxysmal nocturnal hemoglobinuria)
5290818706 PIK3CA Ovarian cancer 171834 2 3q26.3 phosphoinositide-3-kinase, catalytic, alpha polypeptide
5310118763 PKD1 Polycystic kidney disease, adult type I 601313 4 16p13.3 polycystic kidney disease 1 (autosomal dominant)
5311318764 PKD2 Polycystic kidney disease, adult, type II 173910 4 4q21-q23 polycystic kidney disease 2 (autosomal dominant)
5313118770 PKLR Anemia, hemolytic, due to PK deficiency 266200 4 1q21 pyruvate kinase, liver and RBC
5317818772 PKP1 Ectodermal dysplasia/skin fragility syndrome 601975 4 1q32 plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)
5327218791 PLAT Plasminogen activator deficiency 173370 17 8p12 plasminogen activator, tissue
5339418810 PLEC1 Muscular dystrophy with epidermolysis bullosa simplex 601282 3 8q24 plectin 1, intermediate filament binding protein 500kDa
5340318815 PLG Plasminogen deficiency, types I and II 173350 2 6q26 plasminogen
5345218816 SERPINF2 Plasmin inhibitor deficiency 262850 3 17p13 serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2
5351618822 PLOD Ehlers-Danlos syndrome, type VI 153454 3 1p36.3-p36.2 procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase, Ehlers-Danlos syndrome type VI)
5354518823 PLP1 Pelizaeus-Merzbacher disease 300401 6 Xq22 proteolipid protein 1 (Pelizaeus-Merzbacher disease, spastic paraplegia 2, uncomplicated)
5371418854 PML Leukemia, acute promyelocytic, PML/RARA type 102578 32 15q22 promyelocytic leukemia
5373654128 PMM2 Carbohydrate-deficient glycoprotein syndrome, type I 601785 3 16p13.3-p13.2 phosphomannomutase 2
5376118858 PMP22 Neuropathy, recurrent, with pressure palsies 601097 6 17p12-p11.2 peripheral myelin protein 22
5395418861 PMS2 Colorectal cancer, hereditary nonpolyposis, type 4 600259 3 7p22 PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
54063109716 PNLIP Pancreatic lipase deficiency 246600 5 10q26.1 pancreatic lipase
5443418976 POMC ACTH deficiency 176830 5 2p23.3 proopiomelanocortin (adrenocorticotropin/ beta-lipotropin/ alpha-melanocyte stimulating hormone/ beta-melanocyte stimulating hormone/ beta-endorphin)
5445318980 PON2 Coronary artery disease, susceptibility to 602447 3 7q21.3 paraoxonase 2
5456118994 POU3F4 Deafness, X-linked 3, conductive, with stapes fixation 300039 3 Xq21.1 POU domain, class 3, transcription factor 4
5459318998 POU4F3 Deafness, autosomal dominant 15 602460 2 5q31 POU domain, class 4, transcription factor 3
5468319016 PPARG Insulin resistance, severe, digenic 601487 12 3p25 peroxisome proliferative activated receptor, gamma
5476219025 PPGB Galactosialidosis 256540 3 20q13.1 protective protein for beta-galactosidase (galactosialidosis)
5498119044 PPOX Porphyria variegata 600923 4 1q22 protoporphyrinogen oxidase
5538119063 PPT1 Ceroid lipofuscinosis, neuronal, variant juvenile type, with granular osmiophilic deposits 600722 5 1p32 palmitoyl-protein thioesterase 1 (ceroid-lipofuscinosis, neuronal 1, infantile)
5546194315 PRCC Renal cell carcinoma, papillary, 1 179755 5 1q21.1 papillary renal cell carcinoma (translocation-associated)
55783418750 PRKCA Pituitary tumor, invasive 176960 2 17q22-q23.2 protein kinase C, alpha
5624119123 PROC Thrombophilia due to protein C deficiency 176860 4 2q13-q14 protein C (inactivator of coagulation factors Va and VIIIa)
5627119128 PROS1 Protein S deficiency 176880 7 3p11-q11.2 protein S (alpha)
56311519139 PRPS1 Phosphoribosyl pyrophosphate synthetase-related gout 311850 4 Xq21-q27 phosphoribosyl pyrophosphate synthetase 1
5651719146 PRSS7 Enterokinase deficiency 606635 2 21q21.1 protease, serine, 7 (enterokinase)
5660519156 PSAP Combined SAP deficiency 176801 9 10q21-q22 prosaposin (variant Gaucher disease and variant metachromatic leukodystrophy)
5663119164 PSEN1 Alzheimer disease-3, early onset 104311 10 14q24.3 presenilin 1 (Alzheimer disease 3)
5664119165 PSEN2 Alzheimer disease-4 600759 7 1q31-q42 presenilin 2 (Alzheimer disease 4)
5728319211 PTEN Prostate cancer, susceptibility to 601728 6 10q23.3 phosphatase and tensin homolog (mutated in multiple advanced cancers 1)
5745919228 PTHR1 Enchondromatosis, Ollier type 168468 5 3p22-p21.1 parathyroid hormone receptor 1
5781119247 PTPN11 ?Cardiofaciocutaneous syndrome 176876 8 12q24.1 protein tyrosine phosphatase, non-receptor type 11 (Noonan syndrome 1)
5805119286 PTS Phenylketonuria due to PTS deficiency 261640 8 11q22.3-q23.3 6-pyruvoyltetrahydropterin synthase
5817419294 19295 PVR Polio, susceptibility to 173850 7 19q13.2 poliovirus receptor
5818158235 PVRL1 Cleft lip/palate ectodermal dysplasia syndrome 600644 4 11q23 poliovirus receptor-related 1 (herpesvirus entry mediator C; nectin)
5825519299 ABCD3 Zellweger syndrome-2 170995 4 1p22-p21 ATP-binding cassette, sub-family D (ALD), member 3
5830419305 PXR1 Zellweger syndrome 600414 3 12p13.3 peroxisome receptor 1
58361110095 PYGL Glycogen storage disease VI 232700 5 14q21-q22 phosphorylase, glycogen; liver (Hers disease, glycogen storage disease type VI)
5837219309 PYGM McArdle disease 232600 3 11q12-q13.2 phosphorylase, glycogen; muscle (McArdle syndrome, glycogen storage disease type V)
58602110391 QDPR Phenylketonuria due to dihydropteridine reductase deficiency 261630 5 4p15.31 quinoid dihydropteridine reductase
5896219373 RAG1 Omenn syndrome 179615 2 11p13 recombination activating gene 1
5897319374 RAG2 Omenn syndrome 179616 1 11p13 recombination activating gene 2
5914319401 RARA Leukemia, acute promyelocytic 180240 6 17q12 retinoic acid receptor, alpha
5925119645 RB1 Retinoblastoma 180200 6 13q14.2 retinoblastoma 1 (including osteosarcoma)
5956220164 OPN1LW Colorblindness, protan 303900 3 Xq28 opsin 1 (cone pigments), long-wave-sensitive (color blindness, protan)
5961119133 RDS Foveomacular dystrophy, adult-onset, with choroidal neovascularization 179605 3 6p21.2-12.3 retinal degeneration, slow (retinitis pigmentosa 7)
5972819701 REN Hyperproreninemia 179820 9 1q32 renin
59792819713 RET Multiple endocrine neoplasia IIB 164761 19 10q11.2 ret proto-oncogene (multiple endocrine neoplasia and medullary thyroid carcinoma 1, Hirschsprung disease)
5993253970 RFX5 MHC class II deficiency, complementation group C 601863 4 1q21 regulatory factor X, 5 (influences HLA class II expression)
6005419743 RHAG Rh-mod syndrome 180297 3 6p21.1-p11 Rhesus blood group-associated glycoprotein
6010219747 RHO Night blindness, congenital stationery, rhodopsin-related 180380 4 3q21-q24 rhodopsin (opsin 2, rod pigment) (retinitis pigmentosa 4, autosomal dominant)
6011224013 RHOK Oguchi disease-2 180381 2 13q34 rhodopsin kinase
6017119771 RLBP1 Newfoundland rod-cone dystrophy 180090 4 15q26 retinaldehyde binding protein 1
6101119888 RP1 Retinitis pigmentosa-1 603937 6 8q11-q13 retinitis pigmentosa 1 (autosomal dominant)
6102519889 RP2 Retinitis pigmentosa-2 312600 2 Xp11.4-p11.21 retinitis pigmentosa 2 (X-linked recessive)
6103519893 RPGR Retinitis pigmentosa, X-linked, with recurrent respiratory infections 312610 3 Xp21.1 retinitis pigmentosa GTPase regulator
6121219892 RPE65 Retinal dystrophy, autosomal recessive, childhood-onset 180069 4 1p31 retinal pigment epithelium-specific protein 65kDa
6191920102 RPS4X 312760 9 Xq13.1 ribosomal protein S4, X-linked
619736110651 RPS6KA3 Mental retardation, X-linked nonspecific, type 19 300075 3 Xp22.2-p22.1 ribosomal protein S6 kinase, 90kDa, polypeptide 3
6223420085 RPS19 Anemia, Diamond-Blackfan 603474 8 19q13.2 ribosomal protein S19
6261220190 RYR1 Malignant hyperthermia susceptibility 1 180901 3 19q13.1 ryanodine receptor 1 (skeletal)
6295520215 SAG Oguchi disease-1 181031 4 2q37.1 S-antigen; retina and pineal gland (arrestin)
62961020216 SAH ?Hypertension, essential 145505 5 16p13.11 SA hypertension-associated homolog (rat)
6299258198 SALL1 Townes-Brocks syndrome 602218 4 16q12.1 sal-like 1 (Drosophila)
6310120238 SCA1 Spinocerebellar ataxia-1 601556 3 6p23 spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)
6311120239 SCA2 Spinocerebellar ataxia-2 601517 3 12q24 spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)
63293110880 SCN4A Myotonia congenita, atypical, acetazolamide-responsive 603967 5 17q23-q25.3 sodium channel, voltage-gated, type IV, alpha polypeptide
6331320271 SCN5A Heart block, progressive, type I 600163 2 3p21 sodium channel, voltage-gated, type V, alpha polypeptide (long (electrocardiographic) QT syndrome 3)
6337320276 SCNN1A Pseudohypoaldosteronism, type I 600228 5 12p13 sodium channel, nonvoltage-gated 1 alpha
6338320277 SCNN1B Liddle syndrome 600760 3 16p12.2-p12.1 sodium channel, nonvoltage-gated 1, beta (Liddle syndrome)
6340320278 SCNN1G Liddle syndrome 600761 2 16p12 sodium channel, nonvoltage-gated 1, gamma
6389866945 SDHA Leigh syndrome 600857 6 5p15 succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
6399866050 SEDL Spondyloepiphyseal dysplasia tarda 300202 4 Xp22 spondyloepiphyseal dysplasia, late
6403120344 SELP Platelet alpha/delta storage pool deficiency 173610 4 1q22-q25 selectin P (granule membrane protein 140kDa, antigen CD62)
6442320391 SGCA Muscular dystrophy, limb-girdle, type 2D 600119 5 17q21 sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
6443224051 SGCB Muscular dystrophy, limb-girdle, type 2E 600900 6 4q12 sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)
6444324052 SGCD Cardiomyopathy, dilated, 1L 601411 4 5q33-q34 sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
6445224053 SGCG Muscular dystrophy, limb-girdle, type 2C 253700 2 13q12 sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)
6448327029 SGSH Sanfilippo syndrome, type A 252900 3 17q25.3 N-sulfoglucosamine sulfohydrolase (sulfamidase)
6469520423 SHH Holoprosencephaly-3 600725 4 7q36 sonic hedgehog homolog (Drosophila)
6476820433 SI Sucrose intolerance 222900 2 3q25.2-q26.2 sucrase-isomaltase
6513520525 SLC2A1 Glucose transport defect, blood-brain barrier 138140 3 1p35-p31.3 solute carrier family 2 (facilitated glucose transporter), member 1
6514520526 SLC2A2 Diabetes mellitus, noninsulin-dependent 138160 2 3q26.1-q26.2 solute carrier family 2 (facilitated glucose transporter), member 2
6517520528 SLC2A4 Diabetes mellitus, noninsulin-dependent 138190 3 17p13 solute carrier family 2 (facilitated glucose transporter), member 4
6519220532 SLC3A1 Cystinuria 104614 6 2p16.3 solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1
65211120533 SLC4A1 Elliptocytosis, Malaysian-Melanesian type 109270 3 17q21-q22 solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)
65231020537 SLC5A1 Glucose/galactose malabsorption 182380 4 22q12.3 solute carrier family 5 (sodium/glucose cotransporter), member 1
6525529856 SMTN 602127 12 22q12.2 smoothelin
65284114479 SLC5A5 Hypothyroidism, congenital 601843 3 19p13.2-p12 solute carrier family 5 (sodium iodide symporter), member 5
65312113162 SLC6A3 Attention-deficit hyperactivity disorder, susceptibility to 126455 5 5p15.3 solute carrier family 6 (neurotransmitter transporter, dopamine), member 3
65322415567 SLC6A4 Anxiety-related personality traits 182138 3 17q11.1-q12 solute carrier family 6 (neurotransmitter transporter, serotonin), member 4
6555120494 SLC10A2 Bile acid malabsorption, primary 601295 3 13q33 solute carrier family 10 (sodium/bile acid cotransporter family), member 2
6557520495 SLC12A1 Bartter syndrome, antenatal 600839 2 15q15-q21.1 solute carrier family 12 (sodium/potassium/chloride transporters), member 1
6559320497 SLC12A3 Gitelman syndrome 600968 3 16q13 solute carrier family 12 (sodium/chloride transporters), member 3
6584620520 SLC22A5 Carnitine deficiency, systemic primary 603377 4 5q31 solute carrier family 22 (organic cation transporter), member 5
6598220587 SMARCB1 Rhabdoid tumors 601607 4 22q11.23 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
6608120596 SMOH Basal cell carcinoma, sporadic 601500 4 7q32.3 smoothened homolog (Drosophila)
6609120597 SMPD1 Niemann-Pick disease, type B 257200 8 11p15.4-p15.1 sphingomyelin phosphodiesterase 1, acid lysosomal (acid sphingomyelinase)
6647220655 SOD1 Amytrophic lateral sclerosis, due to SOD1 deficiency 147450 6 21q22.11 superoxide dismutase 1, soluble (amyotrophic lateral sclerosis 1 (adult))
66621020682 SOX9 Acampomelic campolelic dysplasia 114290 4 17q24.3-q25.1 SRY (sex determining region Y)-box 9 (campomelic dysplasia, autosomal sex-reversal)
66631020665 SOX10 Yemenite deaf-blind hypopigmentation syndrome 602229 4 22q13.1 SRY (sex determining region Y)-box 10
66831150850 SPG4 Spastic paraplegia-4 604277 4 2p24-p21 spastic paraplegia 4 (autosomal dominant; spastin)
6708320739 SPTA1 Pyropoikilocytosis 182860 3 1q21 spectrin, alpha, erythrocytic 1 (elliptocytosis 2)
6710820741 SPTB Elliptocytosis-3 182870 3 14q23-q24.2 spectrin, beta, erythrocytic (includes spherocytosis, clinical type I)
67368321674 SRY Gonadal dysgenesis, XY type 480000 8 Yp11.3 sex determining region Y
6752920606 SSTR2 Lung cancer, small cell 182452 4 17q24 somatostatin receptor 2
6760320836 SS18 Sarcoma, synovial 600192 2 18q11.2 synovial sarcoma translocation, chromosome 18
6770320845 STAR Lipoid adrenal hyperplasia 600617 5 8p11.2 steroidogenic acute regulatory protein
6794120869 STK11 Peutz-Jeghers syndrome 602216 6 19p13.3 serine/threonine kinase 11 (Peutz-Jeghers syndrome)
68331020927 ABCC8 Persistent hyperinsulinemic hypoglycemia of infancy 600509 8 11p15.1 ATP-binding cassette, sub-family C (CFTR/MRP), member 8
68341111342 SURF1 Leigh syndrome, due to COX deficiency 185620 3 9q34.2 surfeit 1
68911221355 TAP2 Bare lymphocyte syndrome, type I, due to TAP2 deficiency 170261 18 6p21.3 transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)
6898121365 TAT Tyrosinemia, type II 276600 4 16q22.1 tyrosine aminotransferase
6901421368 TAZ Noncompaction of left ventricular myocardium, isolated 300394 3 Xq28 tafazzin (cardiomyopathy, dilated 3A (X-linked); endocardial fibroelastosis 2; Barth syndrome)
6910821388 TBX5 Holt-Oram syndrome 601620 8 12q24.1 T-box 5
6916321391 TBXAS1 Thromboxane synthase deficiency 274180 8 7q34-q35 thromboxane A synthase 1 (platelet, cytochrome P450, subfamily V)
6926721386 TBX3 Ulnar-mammary syndrome 601621 7 12q24.1 T-box 3 (ulnar mammary syndrome)
6927221405 TCF1 MODY, type III 600496 4 12q24.2 transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor
6928221410 TCF2 MODY, type V 189907 6 17cen-q21.3 transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor
6929721423 TCF3 Leukemia, acute lymphoblastic 147141 4 19p13.3 transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47)
6949121453 TCOF1 Treacher Collins mandibulofacial dysostosis 606847 5 5q32-q33.1 Treacher Collins-Franceschetti syndrome 1
6955421473 TRA@ Leukemia/lymphoma, T-cell 186880 4 14q11.2 T cell receptor alpha locus
70071021683 TECTA Deafness, autosomal recessive 21 602574 2 11q22-q24 tectorin alpha
70101721687 TEK Venous malformations, multiple cutaneous and mucosal 600221 2 9p21 TEK tyrosine kinase, endothelial (venous malformations, multiple cutaneous and mucosal)
7018522041 TF Atransferrinemia 190000 13 3q21 transferrin
7038621819 TG Hypothyroidism, hereditary congenital 188450 5 8q24.2-q24.3 thyroglobulin
7044113590 EBAF Left-right axis malformation 601877 3 1q42.1 endometrial bleeding associated factor (left-right determination, factor A; transforming growth factor beta superfamily)
7045221810 TGFBI Corneal dystrophy, lattice type IIIA 601692 5 5q31 transforming growth factor, beta-induced, 68kDa
7048821813 TGFBR2 Esophageal cancer 190182 5 3p22 transforming growth factor, beta receptor II (70/80kDa)
7050221815 TGIF Holoprosencephaly-4 602630 3 18p11.3 TGFB-induced factor (TALE family homeobox)
70511121816 TGM1 Ichthyosis, lamellar, autosomal recessive 190195 6 14q11.2 transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)
7056221824 THBD Thrombophilia due to thrombomodulin defect 188040 5 20p12-cen thrombomodulin
7066121832 THPO Thrombocythemia, essential 600044 9 3q27 thrombopoietin (myeloproliferative leukemia virus oncogene ligand, megakaryocyte growth and development factor)
7068121834 THRB Thyroid hormone resistance, 274300 190160 3 3p24.3 thyroid hormone receptor, beta (erythroblastic leukemia viral (v-erb-a) oncogene homolog 2, avian)
7078321859 TIMP3 Sorsby fundus dystrophy 188826 13 22q12.3 tissue inhibitor of metalloproteinase 3 (Sorsby fundus dystrophy, pseudoinflammatory)
7086621881 TKT Wernicke-Korsakoff syndrome, susceptibility to 606781 5 3p14.3 transketolase (Wernicke-Korsakoff syndrome)
7137121954 TNNI3 Cardiomyopathy, familial hypertrophic 191044 4 19q13.4 troponin I, cardiac
7157422059 TP53 Multiple malignancy syndrome 191170 24 17p13.1 tumor protein p53 (Li-Fraumeni syndrome)
7167221991 TPI1 Hemolytic anemia due to triosephosphate isomerase deficiency 190450 11 12p13 triosephosphate isomerase 1
7168922003 TPM1 Cardiomyopathy, familial hypertrophic, 3 191010 4 15q22.1 tropomyosin 1 (alpha)
7172122017 TPMT 6-mercaptopurine sensitivity 187680 12 6p22.3 thiopurine S-methyltransferase
7173722018 TPO Thyroid hormone organification defect IIA 606765 9 2p25 thyroid peroxidase
7227183925 TRPS1 Trichorhinophalangeal syndrome, type III 604386 4 8q24.12 trichorhinophalangeal syndrome I
7248464930 TSC1 Lymphangioleiomyomatosis 605284 3 9q34 tuberous sclerosis 1
7251122088 TSG101 Breast cancer 601387 3 11p15 tumor susceptibility gene 101
7253722095 TSHR Graves disease 603372 5 14q31 thyroid stimulating hormone receptor
7274250500 TTPA Ataxia with isolated vitamin E deficiency 600415 3 8q13.1-q13.3 tocopherol (alpha) transfer protein (ataxia (Friedreich-like) with vitamin E deficiency)
7276422139 TTR Amyloid neuropathy, familial, several allelic types 176300 11 18q12.1 transthyretin (prealbumin, amyloidosis type I)
7287422157 TULP1 Retinitis pigmentosa-14 602280 3 6p21.3 tubby like protein 1
7299222173 TYR Albinism, oculocutaneous, type IB 606933 7 11q14-q21 tyrosinase (oculocutaneous albinism IA)
7306222178 TYRP1 Albinism, rufous 115501 3 9p23 tyrosinase-related protein 1
7337622215 UBE3A Angelman syndrome 601623 21 15q11-q13 ubiquitin protein ligase E3A (human papilloma virus E6-associated protein, Angelman syndrome)
7372322247 UMPS Oroticaciduria 258900 8 3q13 uridine monophosphate synthetase (orotate phosphoribosyl transferase and orotidine-5'-decarboxylase)
7389222275 UROD Porphyria, hepatoerythropoietic 176100 9 1p34 uroporphyrinogen decarboxylase
7399222283 USH2A Retinitis pigmentasa, AR, without hearing loss 276901 3 1q41 Usher syndrome 2A (autosomal recessive, mild)
7421122337 VDR Rickets, vitamin D-resistant 601769 4 12q12-q14 vitamin D (1,25- dihydroxyvitamin D3) receptor
7439124115 VMD2 Macular dystrophy, vitelliform type 153700 5 11q13 vitelliform macular dystrophy (Best disease, bestrophin)
7450722371 VWF von Willebrand disease 193400 11 12p13.3 von Willebrand factor
7486222427 WRN Werner syndrome 604611 4 8p12-p11.2 Werner syndrome
7498822436 XDH Xanthinuria, type I 278300 4 2p23-p22 xanthene dehydrogenase
7504722439 XK McLeod phenotype 314850 5 Xp21.1 Kell blood group precursor (McLeod phenotype)
7507122590 XPA Xeroderma pigmentosum, group A 278700 4 9q22.3 xeroderma pigmentosum, complementation group A
7508222591 XPC Xeroderma pigmentosum, group C 278720 4 3p25 xeroderma pigmentosum, complementation group C
7535722637 ZAP70 Selective T-cell defect 176947 2 2q12 zeta-chain (TCR) associated protein kinase 70kDa
7546622772 ZIC2 Holoprosencephaly-5 603073 2 13q32 Zic family member 2 (odd-paired homolog, Drosophila)
7547622773 ZIC3 Heterotaxy, X-linked visceral 300265 2 Xq26.2 Zic family member 3 heterotaxy 1 (odd-paired homolog, Drosophila)
755525312785 ZNF9 Myotonic dystrophy, type 2 602668 5 3q21 zinc finger protein 9 (a cellular retroviral nucleic acid binding protein)
77049122659 ZNF145 Leukemia, acute promyelocytic, PL2F/RARA type 176797 5 11q23.1 zinc finger protein 145 (Kruppel-like, expressed in promyelocytic leukemia)
7750276007 ZNF198 Stem-cell leukemia/lymphoma syndrome 602221 6 13q11-q12 zinc finger protein 198
78272170484 NPHS2 Nephrotic syndrome, steroid-resistant 604766 3 1q25-q31 nephrosis 2, idiopathic, steroid-resistant (podocin)
7849518510 PAX8 Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia 167415 11 2q12-q14 paired box gene 8
7873274840 ARMET Pancreatic cancer 601916 2 3p21.1 arginine-rich, mutated in early stage tumors
79134110052 DEK Leukemia, acute nonlymphocytic 125264 3 6p23 DEK oncogene (DNA binding)
791510110782 ALDH5A1 Succinic semialdehyde dehydrogenase deficiency 271980 4 6p22 aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase)
7941327226 PLA2G7 Platelet-activating factor acetylhydrolase deficiency 601690 3 6p21.2-p12 phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)
8013218124 NR4A3 Chondrosarcoma, extraskeletal myxoid 600542 7 9q22 nuclear receptor subfamily 4, group A, member 3
8029165969 CUBN Megaloblastic anemia-1 602997 2 10p12.31 cubilin (intrinsic factor-cobalamin receptor)
8089564050 Glioma 602116 3 12q13-q15 glioma-amplified sequence-41
8106154196 PABPN1 Oculopharyngeal muscular dystrophy, autosomal recessive 602279 2 14q11.2-q13 poly(A) binding protein, nuclear 1
813912116910 GAN Giant axonal neuropathy-1 605379 2 16q24.1 giant axonal neuropathy (gigaxonin)
8195359030 MKKS Bardet-Biedl syndrome 6 604896 5 20p12 McKusick-Kaufman syndrome
8200114563 GDF5 Acromesomelic dysplasia, Hunter-Thompson type 601146 4 20q11.2 growth differentiation factor 5 (cartilage-derived morphogenetic protein-1)
8277683553 TKTL1 ?Wernicke-Korsakoff syndrome, susceptibility to 300044 2 Xq28 transketolase-like 1
82911326903 DYSF Myopathy, distal, with anterior tibial onset 603009 5 2p13.3-p13.1 dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)
8468194244 FKBP6 604839 3 7q11.23 FK506 binding protein 6, 36kDa
8557121393 TCAP Muscular dystrophy, limb-girdle, type 2G 604488 6 17q12 titin-cap (telethonin)
8625419727 RFXANK MHC class II deficiency, complementation group B 603200 7 19p12 regulatory factor X-associated ankyrin-containing protein
86471227413 ABCB11 Progressive intrahepatic cholestasis-2 603201 3 2q24 ATP-binding cassette, sub-family B (MDR/TAP), member 11
88981177116 MTMR2 Charcot-Marie-Tooth disease, type 4B 603557 4 11q22 myotubularin related protein 2
9031322385 BAZ1B 605681 6 7q11.23 bromodomain adjacent to zinc finger domain, 1B
90561220540 SLC7A7 Lysinuric protein intolerance 603593 5 14q11.2 solute carrier family 7 (cationic amino acid transporter, y+ system), member 7
9132260613 KCNQ4 Deafness, autosomal dominant 2 603537 3 1p34 potassium voltage-gated channel, KQT-like subfamily, member 4
9381983762 OTOF Deafness, autosomal recessive 9 603681 4 2p23.1 otoferlin
9444119317 7 6q26-27 ortholog of mouse quaking QKI (KH domain RNA binding protein)
9445816432 ITM2B Dementia, familial British 603904 5 13q14.3 integral membrane protein 2B
9993313356 DGCR2 600594 5 22q11.21 DiGeorge syndrome critical region gene 2
105122920348 SEMA3C 602645 2 7q21-q31 sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C
10539330926 TXNL2 5 6p25.3 thioredoxin-like 2
105601116914 SLC19A2 Thiamine-responsive megaloblastic anemia syndrome 603941 4 1q23.3 solute carrier family 19 (thiamine transporter), member 2
10577367963 NPC2 Niemann-pick disease, type C2 601015 3 14q24.3 Niemann-Pick disease, type C2
10682313595 EBP Chondrodysplasia punctata, X-linked dominant 300205 6 Xp11.23-p11.22 emopamil binding protein (sterol isomerase)
10804714623 GJB6 Deafness, nonsyndromic neurosensory, digenic 604418 2 13q12 gap junction protein, beta 6 (connexin 30)
10913113608 EDAR Ectodermal dysplasia, hypohidrotic, autosomal recessive 604095 3 2q11-q13 ectodysplasin 1, anhidrotic receptor
110811116545 KERA Cornea plana congenita, recessive 603288 4 12q22 keratocan
11136930962 SLC7A9 Cystinuria, type II 604144 4 19q13.1 solute carrier family 7 (cationic amino acid transporter, y+ system), member 9
230952216561 KIF1B Charcot-Marie-Tooth neuropathy, type 2A 605995 3 1p36.2 kinesin family member 1B
234189170788 CRB1 Leber congenital amaurosis 604210 4 1q31-q32.1 crumbs homolog 1 (Drosophila)
26121668988 PRPF31 Retinitis pigmentosa-11 606419 4 19q13.42 PRP31 pre-mRNA processing factor 31 homolog (yeast)
50964174499 SOST Sclerosteosis 605740 4 17q12-q21 sclerosteosis
510621073991 SPG3A Spastic paraplegia-3A 606439 4 14q21.3 spastic paraplegia 3A (autosomal dominant)
511682317910 MYO15A Deafness, autosomal recessive 3 602666 2 17p11.2 myosin XVA
54840566408 APTX Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 606350 3 9p13.3 aprataxin
55806115460 HR Atrichia with papular lesions 602302 5 8p21.2 hairless
57192994178 MCOLN1 Mucolipidosis IV 605248 7 19p13.3-p13.2 mucolipin 1
57379111628 AICDA Immunodeficiency with hyper-IgM, type 2 605257 4 12p13 activation-induced cytidine deaminase
57679474018 ALS2 Amyotrophic lateral sclerosis, juvenile 606352 5 2q33.2 amyotrophic lateral sclerosis 2 (juvenile)
640723722295 CDH23 Deafness, autosomal recessive 12 605516 7 10q21-q22 cadherin related 23
64327456873 C7orf2 Acheiropody 605522 5 7q36 chromosome 7 open reading frame 2
646997140765 TMPRSS3 Deafness, autosomal recessive 8, childhood onset 605511 10 21q22.3 transmembrane protease, serine 3
64805870839 Platelet ADP receptor defect 600515 5 3q24-q25 Purinergic receptor P2Y, G protein-coupled, 12
65217211994 PCDH15 Usher syndrome, type 1F 605514 3 10q21.1 protocadherin 15
939867114142 FOXP2 Speech-language disorder-1 605317 3 7q31 forkhead box P2
LocusIDs with asterisks(*) are entries that have no proteins.