|
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
|
|