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Over 2,000 gene–disease validation summaries are now available—no login required!

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Stats

Total associations
6681
Unique genes
4239
Unique diseases
3297
Gene–disease association summaries
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Gene–Disease Browser

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Gene Disease Score Actions
GMPPB
(HGNC:22932)
congenital myasthenic syndrome
(MONDO_0018940)
 Strong
COL27A1
(HGNC:22986)
Steel syndrome
(MONDO_0014061)
 Strong
FAM20A
(HGNC:23015)
amelogenesis imperfecta type 1G
(MONDO_0008771)
 Definitive
FAM20B
(HGNC:23017)
Desbuquois dysplasia
(MONDO_0015426)
 Limited
CPA1
(HGNC:2296)
hereditary chronic pancreatitis
(MONDO_0008185)
 Moderate
PEX26
(HGNC:22965)
Zellweger spectrum disorders
(MONDO_0019609)
 Strong
MED13L
(HGNC:22962)
congenital heart disease
(MONDO_0005453)
 Strong
POGLUT1
(HGNC:22954)
autosomal recessive limb-girdle muscular dystrophy type 2R1
(MONDO_0014977)
 Strong
MED13L
(HGNC:22962)
syndromic intellectual disability
(MONDO_0000508)
 Strong
POGLUT1
(HGNC:22954)
Dowling-Degos disease
(MONDO_0008371)
 Strong
COX8A
(HGNC:2294)
cytochrome-c oxidase deficiency disease
(MONDO_0009068)
 Moderate
GMPPB
(HGNC:22932)
autosomal recessive limb-girdle muscular dystrophy type 2T
(MONDO_0014142)
 Strong
GMPPA
(HGNC:22923)
triple-A syndrome
(MONDO_0009279)
 Moderate
GMPPA
(HGNC:22923)
alacrima, achalasia, and intellectual disability syndrome
(MONDO_0014219)
 Strong
COX4I1
(HGNC:2265)
cytochrome-c oxidase deficiency disease
(MONDO_0009068)
 Moderate
COX5A
(HGNC:2267)
cytochrome-c oxidase deficiency disease
(MONDO_0009068)
 Limited
COX15
(HGNC:2263)
Leigh syndrome
(MONDO_0009723)
 Moderate
COX10
(HGNC:2260)
mitochondrial disease
(MONDO_0044970)
 Moderate
COX10
(HGNC:2260)
cytochrome-c oxidase deficiency disease
(MONDO_0009068)
 Strong
COX10
(HGNC:2260)
Leigh syndrome
(MONDO_0009723)
 Strong
Showing 2541–2560 of 6681