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
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
Showing 4881–4900 of 6699