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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
COL4A6
(HGNC:2208)
X-linked nonsyndromic hearing loss
(MONDO_0019586)
 Limited
COL4A5
(HGNC:2207)
X-linked Alport syndrome
(MONDO_0010520)
 Definitive
COL4A5
(HGNC:2207)
Alport syndrome
(MONDO_0018965)
 Definitive
COL4A4
(HGNC:2206)
Alport syndrome
(MONDO_0018965)
 Definitive
COL4A4
(HGNC:2206)
autosomal recessive Alport syndrome
(MONDO_0008762)
 Strong
COL4A4
(HGNC:2206)
autosomal dominant Alport syndrome
(MONDO_0007086)
 Strong
COL4A3
(HGNC:2204)
Alport syndrome
(MONDO_0018965)
 Definitive
COL2A1
(HGNC:2200)
hypochondrogenesis
(MONDO_0019669)
 Definitive
COL2A1
(HGNC:2200)
dysspondyloenchondromatosis
(MONDO_0019412)
 Moderate
COL4A3
(HGNC:2204)
autosomal recessive Alport syndrome
(MONDO_0008762)
 Definitive
COL4A3
(HGNC:2204)
autosomal dominant Alport syndrome
(MONDO_0007086)
 Strong
COL4A2
(HGNC:2203)
familial porencephaly
(MONDO_0020496)
 Strong
COL4A1
(HGNC:2202)
familial porencephaly
(MONDO_0020496)
 Strong
COL4A1
(HGNC:2202)
microangiopathy and leukoencephalopathy, pontine, autosomal dominant
(MONDO_0032814)
 Strong
COL1A2
(HGNC:2198)
osteogenesis imperfecta type 2
(MONDO_0008147)
 Strong
COL4A1
(HGNC:2202)
autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
(MONDO_0012726)
 Strong
COL2A1
(HGNC:2200)
avascular necrosis of femoral head, primary, 1
(MONDO_0054550)
 Moderate
COL3A1
(HGNC:2201)
Ehlers-Danlos syndrome, vascular type
(MONDO_0017314)
 Definitive
COL4A1
(HGNC:2202)
muscular dystrophy-dystroglycanopathy, type A
(MONDO_0000171)
 Limited
COL2A1
(HGNC:2200)
autosomal dominant rhegmatogenous retinal detachment
(MONDO_0016202)
 Strong
Showing 2581–2600 of 6681