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
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
PTS
(HGNC:9689)
BH4-deficient hyperphenylalaninemia A
(MONDO_0009863)
 Definitive
BBS2
(HGNC:967)
retinitis pigmentosa
(MONDO_0019200)
 Moderate
Showing 201–220 of 6699