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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
RAD50
(HGNC:9816)
Nijmegen breakage syndrome-like disorder
(MONDO_0013118)
 Limited
RAC1
(HGNC:9801)
intellectual disability, autosomal dominant 48
(MONDO_0030913)
 Moderate
RAB7A
(HGNC:9788)
Charcot-Marie-Tooth disease type 2B
(MONDO_0010949)
 Strong
RAB28
(HGNC:9768)
cone-rod dystrophy
(MONDO_0015993)
 Moderate
PYGL
(HGNC:9725)
glycogen storage disease VI
(MONDO_0009294)
 Definitive
ALDH18A1
(HGNC:9722)
cutis laxa, autosomal dominant 3
(MONDO_0014706)
 Strong
ALDH18A1
(HGNC:9722)
autosomal recessive complex spastic paraplegia type 9B
(MONDO_0014702)
 Strong
ALDH18A1
(HGNC:9722)
hereditary spastic paraplegia 9A
(MONDO_0011006)
 Moderate
ALDH18A1
(HGNC:9722)
ALDH18A1-related de Barsy syndrome
(MONDO_0009053)
 Strong
PYCR1
(HGNC:9721)
autosomal recessive cutis laxa type 2B
(MONDO_0013051)
 Strong
PYCR1
(HGNC:9721)
geroderma osteodysplastica
(MONDO_0009271)
 Moderate
PEX5
(HGNC:9719)
peroxisome biogenesis disorder
(MONDO_0019234)
 Strong
PEX5
(HGNC:9719)
rhizomelic chondrodysplasia punctata type 5
(MONDO_0014743)
 Moderate
PEX2
(HGNC:9717)
Zellweger spectrum disorders
(MONDO_0019609)
 Strong
PEX19
(HGNC:9713)
Zellweger spectrum disorders
(MONDO_0019609)
 Limited
PEX2
(HGNC:9717)
peroxisome biogenesis disorder
(MONDO_0019234)
 Definitive
PEX19
(HGNC:9713)
peroxisome biogenesis disorder
(MONDO_0019234)
 Moderate
BBS5
(HGNC:970)
Bardet-Biedl syndrome
(MONDO_0015229)
 Strong
BBS5
(HGNC:970)
Bardet-Biedl syndrome 5
(MONDO_0014434)
 Moderate
BBS4
(HGNC:969)
Bardet-Biedl syndrome
(MONDO_0015229)
 Strong
Showing 181–200 of 6681