Stats

Total associations
6699
Unique genes
4252
Unique diseases
3300
Gene–disease association summaries
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Gene–Disease Browser

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Gene Disease Score Actions
GJB1
(HGNC:4283)
Charcot-Marie-Tooth disease X-linked dominant 1
(MONDO_0010549)
 Definitive
GJA5
(HGNC:4279)
familial atrial fibrillation
(MONDO_0018054)
 Moderate
GJA1
(HGNC:4274)
erythrokeratodermia variabilis
(MONDO_0017851)
 Limited
GJA1
(HGNC:4274)
craniometaphyseal dysplasia
(MONDO_0015465)
 Moderate
GJA1
(HGNC:4274)
Hallermann-Streiff syndrome
(MONDO_0009318)
 Limited
GJA1
(HGNC:4274)
oculodentodigital dysplasia
(MONDO_0008111)
 Definitive
GJA1
(HGNC:4274)
autosomal dominant palmoplantar keratoderma and congenital alopecia
(MONDO_0007083)
 Limited
GH1
(HGNC:4261)
isolated growth hormone deficiency type II
(MONDO_0008250)
 Strong
GGCX
(HGNC:4247)
pulmonary arterial hypertension
(MONDO_0015924)
 Limited
GGCX
(HGNC:4247)
body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
(MONDO_0012570)
 Moderate
GFI1B
(HGNC:4238)
platelet storage pool deficiency
(MONDO_0008495)
 Moderate
GDI1
(HGNC:4226)
non-syndromic X-linked intellectual disability
(MONDO_0019181)
 Limited
GDF6
(HGNC:4221)
multiple synostoses syndrome 4
(MONDO_0054752)
 Moderate
GDF6
(HGNC:4221)
microphthalmia
(MONDO_0021129)
 Limited
GDF5
(HGNC:4220)
acromesomelic dysplasia 2B
(MONDO_0009231)
 Moderate
GDF5
(HGNC:4220)
acromesomelic dysplasia 2C, Hunter-Thompson type
(MONDO_0008717)
 Limited
GDF5
(HGNC:4220)
proximal symphalangism
(MONDO_0008511)
 Strong
GDF5
(HGNC:4220)
brachydactyly type C
(MONDO_0007221)
 Strong
GDF5
(HGNC:4220)
brachydactyly type A2
(MONDO_0007216)
 Strong
GDF5
(HGNC:4220)
brachydactyly type A1
(MONDO_0007215)
 Moderate
Showing 1501–1520 of 6699