|
KIAA1549
(HGNC:22219)
|
retinitis pigmentosa
(MONDO_0019200)
|
Limited
|
|
|
COLEC10
(HGNC:2220)
|
3MC syndrome 3
(MONDO_0009554)
|
Moderate
|
|
|
COLEC10
(HGNC:2220)
|
3MC syndrome
(MONDO_0017398)
|
Strong
|
|
|
COL7A1
(HGNC:2214)
|
pretibial dystrophic epidermolysis bullosa
(MONDO_0007552)
|
Strong
|
|
|
COL9A3
(HGNC:2219)
|
Stickler syndrome
(MONDO_0019354)
|
Strong
|
|
|
AP5Z1
(HGNC:22197)
|
hereditary spastic paraplegia 48
(MONDO_0013342)
|
Moderate
|
|
|
COL9A2
(HGNC:2218)
|
Stickler syndrome
(MONDO_0019354)
|
Moderate
|
|
|
COL9A1
(HGNC:2217)
|
Stickler syndrome
(MONDO_0019354)
|
Moderate
|
|
|
COL8A2
(HGNC:2216)
|
posterior polymorphous corneal dystrophy
(MONDO_0020364)
|
Disputed
|
|
|
COL8A2
(HGNC:2216)
|
Fuchs' endothelial dystrophy
(MONDO_0005321)
|
Moderate
|
|
|
COL7A1
(HGNC:2214)
|
recessive dystrophic epidermolysis bullosa inversa
(MONDO_0019310)
|
Moderate
|
|
|
COL7A1
(HGNC:2214)
|
dystrophic epidermolysis bullosa, nails only
(MONDO_0015553)
|
Limited
|
|
|
COL7A1
(HGNC:2214)
|
dystrophic epidermolysis bullosa pruriginosa
(MONDO_0011398)
|
Strong
|
|
|
COL7A1
(HGNC:2214)
|
recessive dystrophic epidermolysis bullosa
(MONDO_0009179)
|
Definitive
|
|
|
COL7A1
(HGNC:2214)
|
transient bullous dermolysis of the newborn
(MONDO_0007548)
|
Strong
|
|
|
COL6A2
(HGNC:2212)
|
Ullrich congenital muscular dystrophy 1A
(MONDO_0009681)
|
Moderate
|
|
|
COL5A2
(HGNC:2210)
|
Ehlers-Danlos syndrome
(MONDO_0020066)
|
Strong
|
|
|
COL5A2
(HGNC:2210)
|
Ehlers-Danlos syndrome, classic type
(MONDO_0007522)
|
Strong
|
|
|
COL4A6
(HGNC:2208)
|
X-linked nonsyndromic hearing loss
(MONDO_0019586)
|
Moderate
|
|
|
COL4A5
(HGNC:2207)
|
X-linked Alport syndrome
(MONDO_0010520)
|
Definitive
|
|