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Gene–disease association summaries
Gene–Disease Browser
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| Gene |
Disease |
Score |
Actions |
|
GDF5
(HGNC:4220)
|
Angel-shaped phalango-epiphyseal dysplasia
(MONDO_0007114)
|
Limited
|
|
|
GDF2
(HGNC:4217)
|
hereditary hemorrhagic telangiectasia
(MONDO_0019180)
|
Moderate
|
|
|
GDF2
(HGNC:4217)
|
pulmonary arterial hypertension
(MONDO_0015924)
|
Definitive
|
|
|
GDF1
(HGNC:4214)
|
right atrial isomerism
(MONDO_0008832)
|
Moderate
|
|
|
GCSH
(HGNC:4208)
|
glycine encephalopathy
(MONDO_0011612)
|
Moderate
|
|
|
OPN1MW
(HGNC:4206)
|
blue cone monochromacy
(MONDO_0010563)
|
Limited
|
|
|
GCM2
(HGNC:4198)
|
familial isolated hyperparathyroidism
(MONDO_0015027)
|
Strong
|
|
|
GCK
(HGNC:4195)
|
permanent neonatal diabetes mellitus
(MONDO_0100164)
|
Strong
|
|
|
GCK
(HGNC:4195)
|
maturity-onset diabetes of the young
(MONDO_0018911)
|
Definitive
|
|
|
GCK
(HGNC:4195)
|
monogenic diabetes
(MONDO_0015967)
|
Definitive
|
|
|
GCK
(HGNC:4195)
|
maturity-onset diabetes of the young type 2
(MONDO_0007453)
|
Definitive
|
|
|
GCGR
(HGNC:4192)
|
GCGR-related hyperglucagonemia
(MONDO_0018582)
|
Strong
|
|
|
GCH1
(HGNC:4193)
|
GTP cyclohydrolase I deficiency
(MONDO_0100184)
|
Strong
|
|
|
GBA1
(HGNC:4177)
|
Gaucher disease type III
(MONDO_0009267)
|
Definitive
|
|
|
GBA1
(HGNC:4177)
|
Gaucher disease
(MONDO_0018150)
|
Definitive
|
|
|
GBA1
(HGNC:4177)
|
Gaucher disease perinatal lethal
(MONDO_0011945)
|
Strong
|
|
|
GBA1
(HGNC:4177)
|
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
(MONDO_0009268)
|
Moderate
|
|
|
GBA1
(HGNC:4177)
|
Gaucher disease type II
(MONDO_0009266)
|
Strong
|
|
|
GBA1
(HGNC:4177)
|
Gaucher disease type I
(MONDO_0009265)
|
Definitive
|
|
|
GBA1
(HGNC:4177)
|
Parkinson disease
(MONDO_0005180)
|
Definitive
|
|