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Gene–disease association summaries
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
|
|