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
ERBB4
(HGNC:3432)
amyotrophic lateral sclerosis
(MONDO_0004976)
 Limited
ERBB3
(HGNC:3431)
Hirschsprung disease
(MONDO_0018309)
 Moderate
ERBB2
(HGNC:3430)
Hirschsprung disease
(MONDO_0018309)
 Limited
ERBB2
(HGNC:3430)
lung cancer
(MONDO_0008903)
 Strong
ERAL1
(HGNC:3424)
Perrault syndrome
(MONDO_0017312)
 Moderate
EPOR
(HGNC:3416)
primary familial polycythemia due to EPO receptor mutation
(MONDO_0007572)
 Definitive
EPHX2
(HGNC:3402)
hypercholesterolemia, familial, 1
(MONDO_0007750)
 Limited
EPHB4
(HGNC:3395)
capillary malformation-arteriovenous malformation syndrome
(MONDO_0012016)
 Strong
EPHB4
(HGNC:3395)
capillary malformation-arteriovenous malformation 2
(MONDO_0020785)
 Definitive
SDHAF1
(HGNC:33867)
mitochondrial disease
(MONDO_0044970)
 Strong
EPB42
(HGNC:3381)
hereditary spherocytosis
(MONDO_0019350)
 Strong
EPB41
(HGNC:3377)
hereditary elliptocytosis
(MONDO_0017319)
 Moderate
EP300
(HGNC:3373)
Rubinstein-Taybi syndrome
(MONDO_0019188)
 Definitive
EP300
(HGNC:3373)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
(MONDO_0013364)
 Strong
CFAP221
(HGNC:33720)
primary ciliary dyskinesia
(MONDO_0016575)
 Moderate
MICOS13
(HGNC:33702)
mitochondrial disease
(MONDO_0044970)
 Moderate
ENPP1
(HGNC:3356)
arterial calcification of infancy
(MONDO_0018870)
 Definitive
PATL2
(HGNC:33630)
oocyte maturation defect 4
(MONDO_0021575)
 Strong
ENPP1
(HGNC:3356)
autosomal recessive hypophosphatemic rickets
(MONDO_0017324)
 Strong
ENPP1
(HGNC:3356)
hypopigmentation-punctate palmoplantar keratoderma syndrome
(MONDO_0014227)
 Strong
Showing 1781–1800 of 6681