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Over 2,000 gene–disease validation summaries are now available—no login required!

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Stats

Total associations
6681
Unique genes
4239
Unique diseases
3297
Gene–disease association summaries
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Gene–Disease Browser

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Gene Disease Score Actions
FCGRT
(HGNC:3621)
breast cancer
(MONDO_0007254)
 Disputed
FAH
(HGNC:3579)
tyrosinemia type I
(MONDO_0010161)
 Definitive
EML6
(HGNC:35412)
keratoconus
(MONDO_0015486)
 Limited
FOXI3
(HGNC:35123)
craniofacial microsomia
(MONDO_0015397)
 Strong
ESRRG
(HGNC:3474)
breast cancer
(MONDO_0007254)
 Limited
EVI5
(HGNC:3501)
multiple sclerosis
(MONDO_0005301)
 Moderate
ESD
(HGNC:3465)
Wilson disease
(MONDO_0010200)
 Disputed
IGLON5
(HGNC:34550)
autoimmune encephalopathy with parasomnia and obstructive sleep apnea
(MONDO_0018489)
 Strong
FABP12
(HGNC:34524)
Marie Unna hereditary hypotrichosis
(MONDO_0018631)
 Refuted
FABP12
(HGNC:34524)
familial multiple trichoepithelioma
(MONDO_0011114)
 Disputed
USP17L2
(HGNC:34434)
endometriosis
(MONDO_0005133)
 Limited
C2orf80
(HGNC:34352)
glioma
(MONDO_0021042)
 Limited
FAM174B
(HGNC:34339)
schizophrenia
(MONDO_0005090)
 Limited
MYMK
(HGNC:33778)
Carey-Fineman-Ziter syndrome
(MONDO_0031415)
 Strong
C2CD4A
(HGNC:33627)
type 2 diabetes mellitus
(MONDO_0005148)
 Limited
CCDC61
(HGNC:33629)
relapsing polychondritis
(MONDO_0019125)
 Disputed
NDUFAF8
(HGNC:33551)
mitochondrial complex I deficiency
(MONDO_0100133)
 Limited
ATRIP
(HGNC:33499)
Seckel syndrome
(MONDO_0019342)
 Moderate
GSTT2B
(HGNC:33437)
velocardiofacial syndrome
(MONDO_0008644)
 Disputed
EXOG
(HGNC:3347)
pseudomyxoma peritonei
(MONDO_0017048)
 Limited
Showing 5481–5500 of 6681