| Human LocusID |
Human Gene Symbol |
Phenotype | OMIM | GI | Human Chromosomal Position |
Human Gene Name (Disease Name) |
|---|---|---|---|---|---|---|
| 275 | AMT | Glycine encephalopathy | 238310 | 3 | 3p21.2-p21.1 | aminomethyltransferase (glycine cleavage system protein T) |
| 415 | ARSE | Chondrodysplasia punctata, brachytelephalangic | 300180 | 2 | Xp22.3 | arylsulfatase E (chondrodysplasia punctata 1) |
| 1071 | CETP | CETP deficiency | 118470 | 7 | 16q21 | cholesteryl ester transfer protein, plasma |
| *1372 | CPP | A processed pseudogene for human ceruloplasmin | 116600 | 0 | 8q21.13-q23.1 | ceruloplasmin (ferroxidase) pseudogene |
| *1767 | DNAH5 | Primary ciliary dyskinesia | 244400, 242650 | 0 | 5p15.2 | Kartagener Syndrome, and Primary ciliary dyskinesia |
| 2177 | FANCD2 | Fanconi anemia, complementation group D2 | 227646 | 5 | 3p26 | Fanconi anemia, complementation group D2 |
| 2304 | FOXE1 | Bamforth-Lazarus syndrome | 602617 | 3 | 9q22 | forkhead box E1 (thyroid transcription factor 2) |
| *2482 | FRAXF | Mental retardation, X-linked, FRAXF type | 300031 | 0 | Xq28 | fragile site, folic acid type, rare, fra(X)(q28) |
| *2708 | GJB4 | Erythrokeratodermia variabilis with erythema gyratum repens | 605425 | 0 | 1p35-p34 | gap junction protein, beta 4 (connexin 30.3) |
| *2989 | GULOP | Scurvy | 240400 | 0 | 8p21.1 | gulonolactone (L-) oxidase pseudogene |
| *3477 | IGER | Atopy | 147050 | 0 | 11q12-q13 | IgE responsiveness (atopic) |
| 3730 | KAL1 | Kallmann syndrome | 308700 | 4 | Xp22.32 | Kallmann syndrome 1 sequence |
| 5314 | PKHD1 | Polycystic kidney and hepatic disease | 606702 | 2 | 6p12.2 | polycystic kidney and hepatic disease 1 (autosomal recessive) |
| *6100 | RP9 | Retinitis pigmentosa-9 | 180104 | 0 | 7p14.3 | retinitis pigmentosa 9 (autosomal dominant) |
| 6687 | SPG7 | Spastic paraplegia-7 | 602783 | 3 | 16q24.3 | spastic paraplegia 7, paraplegin (pure and complicated autosomal recessive) |
| 6756 | SSX1 | Sarcoma, synovial | 312820 | 3 | Xp11.23-p11.22 | synovial sarcoma, X breakpoint 1 |
| *6851 | SYM1 | 185800 | 0 | 17q21-q22 | symphalangism 1 (proximal) | |
| *7170 | TPM3 | Nemaline myopathy 1, autosomal dominant | 191030 | 0 | 1q22-q23 | tropomyosin 3 |
| *7828 | Epidermolysis bullosa inversa, junctional | 226450 | 0 | 1q31 | Epidermolysis bullosa 2A, junctional Herlitz | |
| *7924 | Diabetes mellitus, insulin-dependent-1 | 222100 | 0 | 6p21.3 | Insulin-dependent diabetes mellitus-1 | |
| *7977 | Malignant hyperthermia susceptibility 3 | 154276 | 0 | 7q21-q22 | Malignant hyperthermia susceptibility 3 | |
| *7996 | Salivary gland pleomorphic adenoma | 181030 | 0 | 8q12 | Salivary gland pleomorphic adenoma | |
| 8030 | D10S170 | Thyroid papillary carcinoma | 601985 | 2 | 10q21 | DNA segment on chromosome 10 (unique) 170 |
| *8081 | AD5 | Alzheimer disease-5 | 602096 | 0 | 12p11.23-q13.12 | Alzheimer disease 5 |
| 8419 | BFSP2 | Cataract, juvenile-onset | 603212 | 2 | 3q21-q25 | beaded filament structural protein 2, phakinin |
| 9338 | TCEAL1 | 300237 | 3 | Xq22.1 | transcription elongation factor A (SII)-like 1 | |
| *9623 | TCL1B | Leukemia/lymphoma, T-cell | 603769 | 0 | 14q32.1 | T-cell leukemia/lymphoma 1B |
| *11239 | CMD1G | 604145 | 0 | 2q31 | cardiomyopathy, dilated 1G (autosomal dominant) | |
| *27184 | DISC2 | Schizophrenia | 606271 | 0 | 1q42.1 | disrupted in schizophrenia 2 |
| *50514 | Esophageal squamous cell carcinoma | 604767 | 0 | 9q32 | deleted in esophageal cancer 1 | |
| *50946 | Fibrodysplasia ossificans progressiva | 135100 | 0 | 4q27-q31 | Fibrodysplasia ossificans progressiva | |
| 54982 | CLN6 | Ceroid-lipofuscinosis, neuronal-6, variant late infantile | 606725 | 5 | 15q22.2 | ceroid-lipofuscinosis, neuronal 6, late infantile, variant |
| *94314 | Endometrial stromal tumors | 606246 | 0 | 7p15 | juxtaposed with another zinc finger gene 1 | |
| *145282 | Mirror-image polydactyly | 606850 | 0 | 14q13.1 | mirror-image polydactyly gene 1 |