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Gene–disease association summaries
Gene–Disease Browser
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| Gene |
Disease |
Score |
Actions |
|
COL4A6
(HGNC:2208)
|
Alport syndrome
(MONDO_0018965)
|
Limited
|
|
|
COL11A2
(HGNC:2187)
|
otospondylomegaepiphyseal dysplasia
(MONDO_0008975)
|
Strong
|
|
|
COL17A1
(HGNC:2194)
|
junctional epidermolysis bullosa
(MONDO_0017612)
|
Definitive
|
|
|
COL17A1
(HGNC:2194)
|
generalized junctional epidermolysis bullosa non-Herlitz type
(MONDO_0019307)
|
Definitive
|
|
|
COL5A1
(HGNC:2209)
|
Ehlers-Danlos syndrome
(MONDO_0020066)
|
Definitive
|
|
|
COL5A1
(HGNC:2209)
|
Ehlers-Danlos syndrome, classic type
(MONDO_0007522)
|
Definitive
|
|
|
COL18A1
(HGNC:2195)
|
Knobloch syndrome
(MONDO_0800166)
|
Definitive
|
|
|
COL11A2
(HGNC:2187)
|
Stickler syndrome
(MONDO_0019354)
|
Strong
|
|
|
VPS13B
(HGNC:2183)
|
Cohen syndrome
(MONDO_0008999)
|
Definitive
|
|
|
COL10A1
(HGNC:2185)
|
Schmid metaphyseal chondrodysplasia
(MONDO_0007983)
|
Definitive
|
|
|
ANTXR2
(HGNC:21732)
|
infantile systemic hyalinosis
(MONDO_0016331)
|
Strong
|
|
|
ANTXR2
(HGNC:21732)
|
juvenile hyaline fibromatosis
(MONDO_0016071)
|
Definitive
|
|
|
ANTXR2
(HGNC:21732)
|
hyaline fibromatosis syndrome
(MONDO_0009229)
|
Definitive
|
|
|
BRAT1
(HGNC:21701)
|
neonatal-onset encephalopathy with rigidity and seizures
(MONDO_0013784)
|
Strong
|
|
|
CCM2
(HGNC:21708)
|
cerebral cavernous malformation
(MONDO_0000820)
|
Definitive
|
|
|
TSPAN12
(HGNC:21641)
|
exudative vitreoretinopathy
(MONDO_0019516)
|
Definitive
|
|
|
AHI1
(HGNC:21575)
|
Joubert syndrome
(MONDO_0018772)
|
Definitive
|
|
|
RFX6
(HGNC:21478)
|
hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
(MONDO_0017400)
|
Strong
|
|
|
CUL7
(HGNC:21024)
|
3-M syndrome
(MONDO_0007477)
|
Definitive
|
|
|
NHLRC1
(HGNC:21576)
|
Lafora disease
(MONDO_0009697)
|
Definitive
|
|