Table 1

Examples of orphan diseases and VS-ranked top 5 candidate 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


Zhu et al. BMC Systems Biology 2012 6(Suppl 3):S8   doi:10.1186/1752-0509-6-S3-S8

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