Table 1 Examples of orphan diseases and VS-ranked top 5 candidate genes
From: A vertex similarity-based framework to discover and rank orphan disease-related genes
Orphan disease | No. of known causal genes | VS ranked top 5 candidate genes |
|---|---|---|
Cone rod dystrophy | 20 | CRB1, RDH5, USH1C, EFEMP1, CABP4 |
Severe combined immunodeficiency | 17 | CD3G, JAK1, ZAP70, IL2RB, IL4 |
Fanconi anemia | 15 | HES1, SAMD3, CYP19A1, XRCC3, USP1 |
Zellweger syndrome | 14 | PEX7, PHEX, ABCD2, ABCD1, ABCD3 |
Autosomal dominant Charcot-Marie-Tooth disease, type 2 | 12 | STAT4, FAIM, MARCH5, STAT6, CRYGC |
Gonadal dysgenesis | 12 | ZFY, ZFX, PTCH2, SOX9, AMH |
Hereditary nonpolyposis colon cancer | 11 | MRC1, MSH3, CARKD, TRIT1, EXO1 |
Papillary or follicular thyroid carcinoma | 11 | CORO2A, ZBTB33, KIF11, AAAS, SEH1L |
Romano-Ward syndrome | 11 | KCNE3, MINK1, KCNJ3, ALG10B, KCNJ9 |
MODY syndrome | 10 | GCKR, IDDM7, MAFA, ST6GAL1, INSRL |