Variant Synonymizer: Platform to identify mutations defined in different ways is available now!

VarSy

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

Browse Summaries

Stats

Total associations
6681
Unique genes
4239
Unique diseases
3297
Gene–disease association summaries
Back to Open Access Summaries

Gene–Disease Browser

Need updated, customized, evidence‑backed summaries? Get it from the leaders in AI‑powered, evidence‑backed summaries provider.
Contact us
Gene Disease Score Actions
NOTCH2
(HGNC:7882)
Alagille syndrome
(MONDO_0007318)
 Strong
NOTCH2
(HGNC:7882)
Acroosteolysis dominant type
(MONDO_0007057)
 Definitive
NOTCH1
(HGNC:7881)
Adams-Oliver syndrome
(MONDO_0007034)
 Strong
NOTCH1
(HGNC:7881)
familial bicuspid aortic valve
(MONDO_0007194)
 Strong
CNOT3
(HGNC:7879)
intellectual developmental disorder with speech delay, autism, and dysmorphic facies
(MONDO_0032864)
 Strong
NOTCH1
(HGNC:7881)
connective tissue disorder
(MONDO_0003900)
 Limited
CNOT2
(HGNC:7878)
intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies
(MONDO_0032832)
 Moderate
CNOT1
(HGNC:7877)
Vissers-Bodmer syndrome
(MONDO_0033618)
 Definitive
NONO
(HGNC:7871)
syndromic X-linked intellectual disability 34
(MONDO_0010501)
 Strong
NOG
(HGNC:7866)
multiple synostoses syndrome
(MONDO_0017923)
 Strong
NOG
(HGNC:7866)
brachydactyly type B2
(MONDO_0012658)
 Limited
NOG
(HGNC:7866)
tarsal-carpal coalition syndrome
(MONDO_0008521)
 Strong
NOG
(HGNC:7866)
multiple synostoses syndrome 1
(MONDO_0008519)
 Strong
NOG
(HGNC:7866)
stapes ankylosis with broad thumbs and toes
(MONDO_0008484)
 Strong
NGF
(HGNC:7808)
hereditary sensory and autonomic neuropathy
(MONDO_0015364)
 Moderate
NGF
(HGNC:7808)
hereditary sensory and autonomic neuropathy type 5
(MONDO_0012092)
 Strong
ATCAY
(HGNC:779)
Cayman type cerebellar ataxia
(MONDO_0011025)
 Strong
NFKBIA
(HGNC:7797)
ectodermal dysplasia and immune deficiency
(MONDO_0010293)
 Strong
NFKB2
(HGNC:7795)
deficiency in anterior pituitary function - variable immunodeficiency syndrome
(MONDO_0017407)
 Strong
NFKB1
(HGNC:7794)
common variable immunodeficiency
(MONDO_0015517)
 Definitive
Showing 601–620 of 6681