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
COL1A1
(HGNC:2197)
Ehlers-Danlos syndrome
(MONDO_0020066)
 Moderate
ADAMTS3
(HGNC:219)
Hennekam syndrome
(MONDO_0016256)
 Limited
COL1A2
(HGNC:2198)
osteogenesis imperfecta
(MONDO_0019019)
 Definitive
COL1A2
(HGNC:2198)
osteogenesis imperfecta type 4
(MONDO_0008148)
 Strong
COL17A1
(HGNC:2194)
amelogenesis imperfecta
(MONDO_0019507)
 Strong
COL17A1
(HGNC:2194)
epithelial recurrent erosion dystrophy
(MONDO_0007381)
 Strong
ADAMTS2
(HGNC:218)
Ehlers-Danlos syndrome, dermatosparaxis type
(MONDO_0009161)
 Moderate
COL12A1
(HGNC:2188)
Bethlem myopathy 2
(MONDO_0034022)
 Strong
COL12A1
(HGNC:2188)
Ullrich congenital muscular dystrophy
(MONDO_0000355)
 Moderate
COL12A1
(HGNC:2188)
Bethlem myopathy
(MONDO_0008029)
 Moderate
IFT56
(HGNC:21882)
biliary, renal, neurologic, and skeletal syndrome
(MONDO_0859191)
 Moderate
RINT1
(HGNC:21876)
hereditary breast carcinoma
(MONDO_0016419)
 Disputed
COL11A2
(HGNC:2187)
fibrochondrogenesis
(MONDO_0016068)
 Moderate
RINT1
(HGNC:21876)
breast cancer
(MONDO_0007254)
 Disputed
COL11A1
(HGNC:2186)
fibrochondrogenesis
(MONDO_0016068)
 Strong
COL11A1
(HGNC:2186)
Stickler syndrome type 2
(MONDO_0011493)
 Strong
COL11A1
(HGNC:2186)
fibrochondrogenesis 1
(MONDO_0009226)
 Limited
COL11A1
(HGNC:2186)
Marshall syndrome
(MONDO_0007949)
 Strong
COCH
(HGNC:2180)
autosomal dominant nonsyndromic hearing loss
(MONDO_0019587)
 Strong
DYNC2I1
(HGNC:21862)
Jeune syndrome
(MONDO_0018770)
 Moderate
Showing 2641–2660 of 6699