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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
GNAO1
(HGNC:4389)
neurodevelopmental disorder with involuntary movements
(MONDO_0060491)
 Strong
GNAO1
(HGNC:4389)
developmental and epileptic encephalopathy, 17
(MONDO_0014199)
 Strong
GNAO1
(HGNC:4389)
movement disorder
(MONDO_0005395)
 Definitive
GNAL
(HGNC:4388)
dystonia 25
(MONDO_0014033)
 Strong
GNAI3
(HGNC:4387)
auriculocondylar syndrome 1
(MONDO_0011234)
 Strong
GNA11
(HGNC:4379)
congenital hemangioma
(MONDO_0018715)
 Limited
GNA11
(HGNC:4379)
autosomal dominant hypocalcemia
(MONDO_0018543)
 Strong
GNA11
(HGNC:4379)
autosomal dominant hypocalcemia 2
(MONDO_0014146)
 Strong
GNA11
(HGNC:4379)
familial hypocalciuric hypercalcemia 2
(MONDO_0007792)
 Strong
GM2A
(HGNC:4367)
Tay-Sachs disease AB variant
(MONDO_0010099)
 Strong
GLRB
(HGNC:4329)
hereditary hyperekplexia
(MONDO_0021022)
 Moderate
BICRA
(HGNC:4332)
Coffin-Siris syndrome 12
(MONDO_0025699)
 Limited
GLI3
(HGNC:4319)
acrocallosal syndrome
(MONDO_0008708)
 Limited
GLI3
(HGNC:4319)
Greig cephalopolysyndactyly syndrome
(MONDO_0008287)
 Definitive
GLI3
(HGNC:4319)
polysyndactyly 4
(MONDO_0008272)
 Strong
GLI3
(HGNC:4319)
Pallister-Hall syndrome
(MONDO_0007804)
 Definitive
GLI2
(HGNC:4318)
holoprosencephaly
(MONDO_0016296)
 Limited
GLI2
(HGNC:4318)
postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
(MONDO_0014369)
 Strong
GLI1
(HGNC:4317)
Ellis-van Creveld syndrome
(MONDO_0009162)
 Strong
GLE1
(HGNC:4315)
lethal arthrogryposis-anterior horn cell disease syndrome
(MONDO_0012750)
 Moderate
Showing 1441–1460 of 6681