| Human LocusID |
number of FANTOM2 clones | Human Gene Symbol |
Phenotype | OMIM | GI | Human Chromosomal Position |
Human Gene Name (Disease Name) |
|---|---|---|---|---|---|---|---|
| 30 | 5 | ACAA1 | Pseudo-Zellweger syndrome | 604054 | 6 | 3p23-p22 | acetyl-Coenzyme A acyltransferase 1 (peroxisomal 3-oxoacyl-Coenzyme A thiolase) |
| 31 | 3 | ACACA | Acetyl-CoA carboxylase deficiency | 200350 | 2 | 17q21 | acetyl-Coenzyme A carboxylase alpha |
| 125 | 6 | ADH1B | Alcoholism, susceptibility to | 103720 | 11 | 4q21-q23 | alcohol dehydrogenase IB (class I), beta polypeptide |
| 585 | 2 | BBS4 | Bardet-Biedl syndrome 4 | 600374 | 3 | 15q22.3-q23 | Bardet-Biedl syndrome 4 |
| 642 | 6 | BLMH | Alzheimer disease, susceptibility to | 602403 | 3 | 17q11.2 | bleomycin hydrolase |
| 716 | 5 | C1S | C1r/C1s deficiency, combined | 120580 | 5 | 12p13 | complement component 1, s subcomponent |
| 731 | 2 | C8A | C8 deficiency, type I | 120950 | 3 | 1p32 | complement component 8, alpha polypeptide |
| 1203 | 4 | CLN5 | Ceroid-lipofuscinosis, neuronal-5, variant late infantile | 256731 | 2 | 13q21.1-q32 | ceroid-lipofuscinosis, neuronal 5 |
| 1528 | 2 | CYB5 | Methemoglobinemia due to cytochrome b5 deficiency | 250790 | 4 | 18q23 | cytochrome b-5 |
| 1540 | 3 | CYLD | Cylindromatosis, familial | 605018 | 6 | 16q12.1 | cylindromatosis (turban tumor syndrome) |
| 1559 | 24 | CYP2C9 | Warfarin sensitivity | 601130 | 6 | 10q24 | cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 9 |
| 1757 | 2 | SARDH | Sarcosinemia | 604455 | 4 | 9q33-q34 | sarcosine dehydrogenase |
| 1806 | 1 | DPYD | Thymine-uraciluria | 274270 | 6 | 1p22 | dihydropyrimidine dehydrogenase |
| 2162 | 12 | F13A1 | Factor XIIIA deficiency | 134570 | 6 | 6p25.3-p24.3 | coagulation factor XIII, A1 polypeptide |
| 2202 | 7 | EFEMP1 | Doyne honeycomb degeneration of retina | 601548 | 3 | 2p16 | EGF-containing fibulin-like extracellular matrix protein 1 |
| 2528 | 8 | FUT6 | Fucosyltransferase-6 deficiency | 136836 | 10 | 19p13.3 | fucosyltransferase 6 (alpha (1,3) fucosyltransferase) |
| 2799 | 12 | GNS | Sanfilippo syndrome, type D | 252940 | 2 | 12q14 | glucosamine (N-acetyl)-6-sulfatase (Sanfilippo disease IIID) |
| 2998 | 2 | GYS2 | Glycogen storage disease, type 0 | 138571 | 3 | 12p12.2 | glycogen synthase 2 (liver) |
| 3000 | 5 | GUCY2D | Cone-rod dystrophy 6 | 600179 | 4 | 17p13.1 | guanylate cyclase 2D, membrane (retina-specific) |
| 3030 | 4 | HADHA | LCHAD deficiency | 600890 | 5 | 2p23 | hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit |
| 3032 | 4 | HADHB | Trifunctional protein deficiency, type II | 143450 | 2 | 2p23 | hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit |
| 3039 | 26 | HBA1 | Thalassemias, alpha- | 141800 | 9 | 16p13.3 | hemoglobin, alpha 1 |
| 3048 | 46 | HBG2 | HPFH, nondeletion type G | 142250 | 12 | 11p15.5 | hemoglobin, gamma G |
| 3115 | 2 | HLA-DPB1 | Beryllium disease, chronic, susceptibility to | 142858 | 11 | 6p21.3 | major histocompatibility complex, class II, DP beta 1 |
| 3501 | 3 | IGHG2 | IgG2 deficiency, selective | 147110 | 1 | 14q32.33 | immunoglobulin heavy constant gamma 2 (G2m marker) |
| 3848 | 16 | KRT1 | Cyclic ichthyosis with epidermolytic hyperkeratosis | 139350 | 5 | 12q12-q13 | keratin 1 (epidermolytic hyperkeratosis) |
| 3850 | 16 | KRT3 | Meesmann corneal dystrophy | 148043 | 7 | 12q12-q13 | keratin 3 |
| 3857 | 22 | KRT9 | Epidermolytic palmoplantar keratoderma | 144200 | 5 | 17q21.1-q21.2 | keratin 9 (epidermolytic palmoplantar keratoderma) |
| 4018 | 2 | LPA | Coronary artery disease, susceptibility to | 152200 | 2 | 6q26-q27 | lipoprotein, Lp(a) |
| 4026 | 16 | LPP | Lipoma | 600700 | 3 | 3q27-q28 | LIM domain containing preferred translocation partner in lipoma |
| 4160 | 2 | MC4R | Obesity, autosomal dominant | 155541 | 3 | 18q22 | melanocortin 4 receptor |
| 4247 | 1 | MGAT2 | Carbohydrate-deficient glycoprotein syndrome, type II | 602616 | 3 | 14q21 | mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase |
| 4306 | 2 | NR3C2 | Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy | 600983 | 3 | 4q31.1 | nuclear receptor subfamily 3, group C, member 2 |
| 4552 | 1 | MTRR | Homocystinuria-megaloblastic anemia, cbl E type | 602568 | 6 | 5p15.3-p15.2 | 5-methyltetrahydrofolate-homocysteine methyltransferase reductase |
| 4719 | 2 | NDUFS1 | Lactic acidosis due to defect in iron-sulfur cluster of complex I | 157655 | 4 | 2q33-q34 | NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase) |
| 4926 | 2 | NUMA1 | Leukemia, acute promyelocytic, NUMA/RARA type | 164009 | 3 | 11q13 | nuclear mitotic apparatus protein 1 |
| 5190 | 6 | PEX6 | Peroxisomal biogenesis disorder, complementation group 6 | 601498 | 3 | 6p21.1 | peroxisomal biogenesis factor 6 |
| 5205 | 18 | ATP8B1 | Cholestasis, progressive familial intrahepatic-1 | 602397 | 3 | 18q21 | ATPase, Class I, type 8B, member 1 |
| 5378 | 1 | PMS1 | Colorectal cancer, hereditary nonpolyposis, type 3 | 600258 | 2 | 2q31.1 | PMS1 postmeiotic segregation increased 1 (S. cerevisiae) |
| 5519 | 5 | PPP2R1B | Lung cancer | 603113 | 3 | 11q23 | protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), beta isoform |
| 5644 | 13 | PRSS1 | Pancreatitis, hereditary | 276000 | 4 | 7q34 | protease, serine, 1 (trypsin 1) |
| 6314 | 1 | SCA7 | Spinocerebellar ataxia-7 | 164500 | 7 | 3p21.1-p12 | spinocerebellar ataxia 7 (olivopontocerebellar atrophy with retinal degeneration) |
| 6392 | 2 | SDHD | Paragangliomas, familial nonchromaffin, 1, with and without deafness | 602690 | 8 | 11q23 | succinate dehydrogenase complex, subunit D, integral membrane protein |
| 6473 | 2 | SHOX | Short stature, idiopathic familial | 400020 | 7 | Xpter-p22.32;Yp11.3 | short stature homeobox |
| 6687 | 4 | SPG7 | Spastic paraplegia-7 | 602783 | 3 | 16q24.3 | spastic paraplegia 7, paraplegin (pure and complicated autosomal recessive) |
| 6785 | 17 | ELOVL4 | Stargardt disease 3 | 605512 | 4 | 6q14 | elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4 |
| 6906 | 9 | SERPINA7 | Euthyroidal hyper- and hypothyroxinemia | 314200 | 5 | Xq22.2 | serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 |
| 7401 | 1 | USH3A | Usher syndrome, type 3 | 606397 | 3 | 3q21-q25 | Usher syndrome 3A |
| 7840 | 1 | ALMS1 | Alstrom syndrome | 606844 | 3 | 2p13 | Alstrom syndrome 1 |
| 8021 | 1 | NUP214 | Leukemia, acute myeloid | 114350 | 3 | 9q34.1 | nucleoporin 214kDa |
| 8050 | 6 | Lacticacidemia due to PDX1 deficiency | 245349 | 3 | 11p13 | Pyruvate dehydrogenase complex, lipoyl-containing component X; E3-binding protein | |
| 8086 | 6 | AAAS | Achalasia-addisonianism-alacrimia syndrome | 605378 | 7 | 12q13 | achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A) |
| 8301 | 2 | PICALM | Leukemia, acute T-cell lymphoblastic | 603025 | 2 | 11q14 | phosphatidylinositol binding clathrin assembly protein |
| 8540 | 5 | AGPS | Rhizomelic chondrodysplasia punctata, type 3 | 603051 | 2 | 2q31 | alkylglycerone phosphate synthase |
| 8659 | 1 | ALDH4A1 | Hyperprolinemia, type II | 606811 | 4 | 1p36 | aldehyde dehydrogenase 4 family, member A1 |
| 9825 | 1 | SPATA2 | 4 | 20q13.1-q13.2 | spermatogenesis associated 2 | ||
| 10594 | 2 | PRPF8 | Retinitis pigmentosa-13 | 600059 | 4 | 17p13.3 | PRP8 pre-mRNA processing factor 8 homolog (yeast) |
| 11141 | 7 | IL1RAPL1 | Mental retardation, X-linked 1, non-dysmorphic | 300206 | 3 | Xp22.1-p21.3 | interleukin 1 receptor accessory protein-like 1 |
| 23230 | 9 | CHAC | Choreoacanthocytosis | 605978 | 6 | 9q21 | chorea acanthocytosis |
| 26119 | 1 | Hypercholesterolemia, familial, autosomal recessive | 605747 | 2 | 1p36-p35 | LDL receptor adaptor protein | |
| 57591 | 5 | MKL1 | Megakaryoblastic leukemia, acute | 606078 | 8 | 22q13 | megakaryoblastic leukemia (translocation) 1 |
| 60506 | 1 | NYX | Night blindness, congenital stationary, type 1 | 300278 | 3 | Xp11.4 | nyctalopin |
| 64127 | 4 | CARD15 | Crohn disease | 605956 | 5 | 16q12 | caspase recruitment domain family, member 15 |
| 65125 | 2 | PRKWNK1 | Pseudohypoaldosteronism, type IIC | 605232 | 5 | 12p13.3 | protein kinase, lysine deficient 1 |
| 65266 | 1 | PRKWNK4 | Pseudohypoaldosteronism type II | 601844 | 3 | 17q21-q22 | protein kinase, lysine deficient 4 |
| 80207 | 1 | OPA3 | 3-methylglutaconicaciduria, type III | 606580 | 3 | 19q13.32 | optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) |
| 114548 | 8 | CIAS1 | Muckle-Wells syndrome | 606416 | 8 | 1q44 | cold autoinflammatory syndrome 1 |