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Gene–disease association summaries
Gene–Disease Browser
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| Gene |
Disease |
Score |
Actions |
|
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)
|
Strong
|
|
|
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)
|
Moderate
|
|
|
GJB3
(HGNC:4285)
|
autosomal dominant nonsyndromic hearing loss
(MONDO_0019587)
|
Limited
|
|
|
GJB2
(HGNC:4284)
|
autosomal dominant nonsyndromic hearing loss
(MONDO_0019587)
|
Moderate
|
|
|
GJB2
(HGNC:4284)
|
KID syndrome
(MONDO_0018781)
|
Strong
|
|
|
GJB2
(HGNC:4284)
|
Bart-Pumphrey syndrome
(MONDO_0007866)
|
Limited
|
|
|
GJB2
(HGNC:4284)
|
autosomal dominant keratitis-ichthyosis-hearing loss syndrome
(MONDO_0007850)
|
Definitive
|
|
|
GJB2
(HGNC:4284)
|
keratoderma hereditarium mutilans
(MONDO_0007422)
|
Strong
|
|
|
GJB2
(HGNC:4284)
|
palmoplantar keratoderma-deafness syndrome
(MONDO_0007852)
|
Moderate
|
|