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
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
Showing 4861–4880 of 6699