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
VARS1
(HGNC:12651)
combined oxidative phosphorylation defect type 20
(MONDO_0014397)
 Refuted
VARS1
(HGNC:12651)
neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
(MONDO_0060621)
 Strong
VAPB
(HGNC:12649)
amyotrophic lateral sclerosis
(MONDO_0004976)
 Moderate
VAPB
(HGNC:12649)
amyotrophic lateral sclerosis type 8
(MONDO_0012077)
 Strong
KDM6A
(HGNC:12637)
Kabuki syndrome
(MONDO_0016512)
 Definitive
KDM6A
(HGNC:12637)
Kabuki syndrome 2
(MONDO_0010465)
 Strong
USP9X
(HGNC:12632)
non-syndromic X-linked intellectual disability
(MONDO_0019181)
 Limited
USP7
(HGNC:12630)
Hao-Fountain syndrome
(MONDO_0014805)
 Strong
USP8
(HGNC:12631)
hereditary spastic paraplegia
(MONDO_0019064)
 Limited
USP18
(HGNC:12616)
pseudo-TORCH syndrome 2
(MONDO_0018828)
 Moderate
CFAP410
(HGNC:1260)
cone-rod dystrophy
(MONDO_0015993)
 Moderate
CFAP410
(HGNC:1260)
axial spondylometaphyseal dysplasia
(MONDO_0011211)
 Moderate
CFAP410
(HGNC:1260)
amyotrophic lateral sclerosis
(MONDO_0004976)
 Limited
CLRN1
(HGNC:12605)
Usher syndrome type 3
(MONDO_0016485)
 Definitive
CLRN1
(HGNC:12605)
retinitis pigmentosa
(MONDO_0019200)
 Moderate
USH2A
(HGNC:12601)
Usher syndrome type 2
(MONDO_0016484)
 Definitive
USH2A
(HGNC:12601)
retinitis pigmentosa
(MONDO_0019200)
 Definitive
USH2A
(HGNC:12601)
Usher syndrome type 2A
(MONDO_0010169)
 Definitive
USH1C
(HGNC:12597)
autosomal recessive nonsyndromic hearing loss 18A
(MONDO_0011192)
 Limited
USH1C
(HGNC:12597)
Usher syndrome type 1C
(MONDO_0010171)
 Moderate
Showing 3681–3700 of 6699