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Gene–disease association summaries
Gene–Disease Browser
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| Gene |
Disease |
Score |
Actions |
|
COMP
(HGNC:2227)
|
multiple epiphyseal dysplasia
(MONDO_0016648)
|
Definitive
|
|
|
COLQ
(HGNC:2226)
|
congenital myasthenic syndrome
(MONDO_0018940)
|
Definitive
|
|
|
COL6A1
(HGNC:2211)
|
Bethlem myopathy
(MONDO_0008029)
|
Definitive
|
|
|
ALG6
(HGNC:23157)
|
ALG6-congenital disorder of glycosylation 1C
(MONDO_0011291)
|
Strong
|
|
|
ZNF469
(HGNC:23216)
|
brittle cornea syndrome 1
(MONDO_0024543)
|
Definitive
|
|
|
KEAP1
(HGNC:23177)
|
non-small cell lung carcinoma
(MONDO_0005233)
|
Strong
|
|
|
CYP4V2
(HGNC:23198)
|
Bietti crystalline corneoretinal dystrophy
(MONDO_0008865)
|
Definitive
|
|
|
UNC13D
(HGNC:23147)
|
hereditary hemophagocytic lymphohistiocytosis
(MONDO_0015541)
|
Definitive
|
|
|
UNC13D
(HGNC:23147)
|
hemophagocytic syndrome
(MONDO_0015540)
|
Definitive
|
|
|
SLC29A3
(HGNC:23096)
|
H syndrome
(MONDO_0011273)
|
Definitive
|
|
|
GNPTG
(HGNC:23026)
|
GNPTG-mucolipidosis
(MONDO_0009652)
|
Strong
|
|
|
ZRSR2
(HGNC:23019)
|
myelodysplastic syndrome
(MONDO_0018881)
|
Strong
|
|
|
CP
(HGNC:2295)
|
aceruloplasminemia
(MONDO_0011426)
|
Definitive
|
|
|
ADAR
(HGNC:225)
|
dyschromatosis symmetrica hereditaria
(MONDO_0007483)
|
Definitive
|
|
|
COL6A3
(HGNC:2213)
|
Ullrich congenital muscular dystrophy
(MONDO_0000355)
|
Definitive
|
|
|
COL6A3
(HGNC:2213)
|
Bethlem myopathy
(MONDO_0008029)
|
Strong
|
|
|
FAM20C
(HGNC:22140)
|
lethal osteosclerotic bone dysplasia
(MONDO_0009821)
|
Strong
|
|
|
COL6A2
(HGNC:2212)
|
Bethlem myopathy
(MONDO_0008029)
|
Strong
|
|
|
COL6A2
(HGNC:2212)
|
Ullrich congenital muscular dystrophy
(MONDO_0000355)
|
Definitive
|
|
|
COL6A1
(HGNC:2211)
|
Ullrich congenital muscular dystrophy
(MONDO_0000355)
|
Definitive
|
|