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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
COL1A2
(HGNC:2198)
osteogenesis imperfecta type 1
(MONDO_0008146)
 Strong
COL2A1
(HGNC:2200)
spondylometaphyseal dysplasia
(MONDO_0016763)
 Disputed
COL2A1
(HGNC:2200)
otospondylomegaepiphyseal dysplasia, autosomal recessive
(MONDO_0044206)
 Limited
COL1A1
(HGNC:2197)
Ehlers-Danlos syndrome, classic type
(MONDO_0007522)
 Strong
COL18A1
(HGNC:2195)
Knobloch syndrome 1
(MONDO_0800167)
 Definitive
KCTD7
(HGNC:21957)
progressive myoclonus epilepsy
(MONDO_0020074)
 Strong
COL1A1
(HGNC:2197)
Caffey disease
(MONDO_0007244)
 Strong
COL1A1
(HGNC:2197)
osteogenesis imperfecta type 4
(MONDO_0008148)
 Strong
KCTD7
(HGNC:21957)
progressive myoclonic epilepsy type 3
(MONDO_0012721)
 Strong
COL1A1
(HGNC:2197)
osteogenesis imperfecta type 2
(MONDO_0008147)
 Strong
COL2A1
(HGNC:2200)
spondyloperipheral dysplasia
(MONDO_0010078)
 Strong
COL2A1
(HGNC:2200)
mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
(MONDO_0011496)
 Strong
COL2A1
(HGNC:2200)
spondyloepiphyseal dysplasia with metatarsal shortening
(MONDO_0012206)
 Strong
COL2A1
(HGNC:2200)
achondrogenesis type II
(MONDO_0008702)
 Definitive
COL2A1
(HGNC:2200)
spondylometaphyseal dysplasia, Schmidt type
(MONDO_0008478)
 Moderate
COL2A1
(HGNC:2200)
spondyloepiphyseal dysplasia congenita
(MONDO_0008471)
 Definitive
COL2A1
(HGNC:2200)
Kniest dysplasia
(MONDO_0007987)
 Definitive
COL2A1
(HGNC:2200)
platyspondylic dysplasia, Torrance type
(MONDO_0007895)
 Strong
COL2A1
(HGNC:2200)
Legg-Calve-Perthes disease
(MONDO_0007885)
 Limited
COL2A1
(HGNC:2200)
Stickler syndrome type 1
(MONDO_0007160)
 Definitive
Showing 2601–2620 of 6681