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VarSy

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
GLE1
(HGNC:4315)
lethal congenital contracture syndrome 1
(MONDO_0009670)
 Strong
GLE1
(HGNC:4315)
amyotrophic lateral sclerosis
(MONDO_0004976)
 Limited
GCLC
(HGNC:4311)
gamma-glutamylcysteine synthetase deficiency
(MONDO_0009259)
 Moderate
ALOX12B
(HGNC:430)
congenital non-bullous ichthyosiform erythroderma
(MONDO_0019306)
 Definitive
GCLC
(HGNC:4311)
cystic fibrosis
(MONDO_0009061)
 Limited
ALOX12B
(HGNC:430)
lamellar ichthyosis
(MONDO_0017778)
 Strong
ALOX12B
(HGNC:430)
self-healing collodion baby
(MONDO_0017267)
 Moderate
ABCB11
(HGNC:42)
benign recurrent intrahepatic cholestasis type 2
(MONDO_0011559)
 Strong
ABCB11
(HGNC:42)
progressive familial intrahepatic cholestasis type 2
(MONDO_0011156)
 Definitive
GLB1
(HGNC:4298)
GM1 gangliosidosis
(MONDO_0018149)
 Definitive
GLB1
(HGNC:4298)
mucopolysaccharidosis type 4B
(MONDO_0009660)
 Definitive
GLB1
(HGNC:4298)
GM1 gangliosidosis type 1
(MONDO_0009260)
 Definitive
GLA
(HGNC:4296)
Fabry disease
(MONDO_0010526)
 Definitive
GJB6
(HGNC:4288)
KID syndrome
(MONDO_0018781)
 Limited
GJB4
(HGNC:4286)
erythrokeratodermia variabilis
(MONDO_0017851)
 Strong
GJB3
(HGNC:4285)
autosomal dominant nonsyndromic hearing loss
(MONDO_0019587)
 Moderate
GJB2
(HGNC:4284)
autosomal dominant nonsyndromic hearing loss
(MONDO_0019587)
 Strong
GJB2
(HGNC:4284)
KID syndrome
(MONDO_0018781)
 Strong
GJB2
(HGNC:4284)
Bart-Pumphrey syndrome
(MONDO_0007866)
 Moderate
GJB2
(HGNC:4284)
autosomal dominant keratitis-ichthyosis-hearing loss syndrome
(MONDO_0007850)
 Definitive
Showing 1461–1480 of 6681