Stats

Total associations
6699
Unique genes
4252
Unique diseases
3300
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
ATOH7
(HGNC:13907)
persistent hyperplastic primary vitreous
(MONDO_0019631)
 Limited
ITCH
(HGNC:13890)
syndromic multisystem autoimmune disease due to ITCH deficiency
(MONDO_0013245)
 Moderate
CACNA1A Gene
(HGNC:1388)
migraine, familial hemiplegic, 1
(MONDO_0020756)
 Definitive
CACNA1A Gene
(HGNC:1388)
spinocerebellar ataxia type 6
(MONDO_0008457)
 Definitive
CACNA1A Gene
(HGNC:1388)
benign paroxysmal torticollis of infancy
(MONDO_0019113)
 Limited
CACNA1A Gene
(HGNC:1388)
developmental and epileptic encephalopathy, 42
(MONDO_0014917)
 Limited
CACNA1A Gene
(HGNC:1388)
episodic ataxia type 2
(MONDO_0007163)
 Definitive
FOXP2
(HGNC:13875)
childhood apraxia of speech
(MONDO_0011184)
 Strong
CABP4
(HGNC:1386)
autosomal dominant nocturnal frontal lobe epilepsy
(MONDO_0020300)
 Limited
LOXL3
(HGNC:13869)
Stickler syndrome
(MONDO_0019354)
 Limited
ADGRG6
(HGNC:13841)
intellectual disability
(MONDO_0001071)
 Limited
CA8
(HGNC:1382)
cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3
(MONDO_0013188)
 Strong
WNT10A
(HGNC:13829)
odonto-onycho-dermal dysplasia
(MONDO_0009773)
 Strong
SLC12A5
(HGNC:13818)
epilepsy of infancy with migrating focal seizures
(MONDO_0100025)
 Moderate
WNT10A
(HGNC:13829)
tooth agenesis
(MONDO_0005486)
 Strong
NEUROG3
(HGNC:13806)
congenital malabsorptive diarrhea 4
(MONDO_0012479)
 Strong
PRX
(HGNC:13797)
Charcot-Marie-Tooth disease type 3
(MONDO_0007790)
 Moderate
CA5A
(HGNC:1377)
hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
(MONDO_0014332)
 Strong
SOST
(HGNC:13771)
hyperostosis corticalis generalisata
(MONDO_0009395)
 Moderate
SOST
(HGNC:13771)
craniodiaphyseal dysplasia
(MONDO_0009031)
 Moderate
Showing 3521–3540 of 6699