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
ALOXE3
(HGNC:13743)
lamellar ichthyosis
(MONDO_0017778)
 Strong
ALOXE3
(HGNC:13743)
congenital non-bullous ichthyosiform erythroderma
(MONDO_0019306)
 Strong
ALOXE3
(HGNC:13743)
self-healing collodion baby
(MONDO_0017267)
 Moderate
CDH23
(HGNC:13733)
autosomal recessive nonsyndromic hearing loss 12
(MONDO_0011067)
 Strong
CDH23
(HGNC:13733)
Usher syndrome type 1D
(MONDO_0010984)
 Definitive
CDH23
(HGNC:13733)
Usher syndrome type 1
(MONDO_0010168)
 Definitive
KMT2C
(HGNC:13726)
Kleefstra syndrome 2
(MONDO_0054701)
 Moderate
DCHS1
(HGNC:13681)
van Maldergem syndrome
(MONDO_0017813)
 Limited
CTCF
(HGNC:13723)
intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
(MONDO_0014213)
 Strong
KLF13
(HGNC:13672)
congenital heart disease
(MONDO_0005453)
 Limited
FBXO11
(HGNC:13590)
intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
(MONDO_0060760)
 Strong
ADAMTS13
(HGNC:1366)
congenital thrombotic thrombocytopenic purpura
(MONDO_0010122)
 Definitive
FBXW11
(HGNC:13607)
neurodevelopmental, jaw, eye, and digital syndrome
(MONDO_0030057)
 Moderate
C8B
(HGNC:1353)
type II complement component 8 deficiency
(MONDO_0013421)
 Strong
C9
(HGNC:1358)
complement component 9 deficiency
(MONDO_0013445)
 Strong
BRD4
(HGNC:13575)
Cornelia de Lange syndrome
(MONDO_0016033)
 Moderate
ERLIN2
(HGNC:1356)
hereditary spastic paraplegia 18
(MONDO_0012639)
 Moderate
MARK4
(HGNC:13538)
neurodevelopmental disorder
(MONDO_0700092)
 Limited
ATP8A2
(HGNC:13533)
cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4
(MONDO_0014104)
 Strong
ATP8A2
(HGNC:13533)
cerebellar ataxia, intellectual disability, and dysequilibrium
(MONDO_0009133)
 Strong
Showing 3541–3560 of 6699