|
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)
|
Definitive
|
|
|
COL4A4
(HGNC:2206)
|
autosomal dominant Alport syndrome
(MONDO_0007086)
|
Strong
|
|
|
COL4A3
(HGNC:2204)
|
Alport syndrome
(MONDO_0018965)
|
Definitive
|
|
|
COL2A1
(HGNC:2200)
|
hypochondrogenesis
(MONDO_0019669)
|
Strong
|
|
|
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)
|
Moderate
|
|
|
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)
|
Moderate
|
|
|
COL1A2
(HGNC:2198)
|
osteogenesis imperfecta type 1
(MONDO_0008146)
|
Moderate
|
|
|
COL2A1
(HGNC:2200)
|
spondylometaphyseal dysplasia
(MONDO_0016763)
|
Refuted
|
|