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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
ACADL
(HGNC:88)
long chain acyl-CoA dehydrogenase deficiency
(MONDO_0020531)
 Refuted
KIF1A
(HGNC:888)
intellectual disability, autosomal dominant 9
(MONDO_0013656)
 Strong
PGM3
(HGNC:8907)
immunodeficiency 23
(MONDO_0014353)
 Definitive
KIF1A
(HGNC:888)
hereditary sensory and autonomic neuropathy type 2
(MONDO_0019941)
 Strong
PFN1
(HGNC:8881)
amyotrophic lateral sclerosis
(MONDO_0004976)
 Moderate
KIF1A
(HGNC:888)
hereditary spastic paraplegia 30
(MONDO_0012476)
 Definitive
KIF1A
(HGNC:888)
PEHO syndrome
(MONDO_0009841)
 Strong
ATRX
(HGNC:886)
intellectual disability-hypotonic facies syndrome, X-linked, 1
(MONDO_0010663)
 Strong
ATRX
(HGNC:886)
alpha thalassemia-X-linked intellectual disability syndrome
(MONDO_0010519)
 Definitive
PEX7
(HGNC:8860)
peroxisome biogenesis disorder
(MONDO_0019234)
 Definitive
PEX7
(HGNC:8860)
adult Refsum disease
(MONDO_0009958)
 Strong
PEX7
(HGNC:8860)
rhizomelic chondrodysplasia punctata type 1
(MONDO_0008972)
 Definitive
PEX6
(HGNC:8859)
Zellweger spectrum disorders
(MONDO_0019609)
 Definitive
PEX6
(HGNC:8859)
peroxisome biogenesis disorder
(MONDO_0019234)
 Definitive
PEX3
(HGNC:8858)
Zellweger spectrum disorders
(MONDO_0019609)
 Strong
PEX16
(HGNC:8857)
Zellweger spectrum disorders
(MONDO_0019609)
 Moderate
PEX16
(HGNC:8857)
peroxisome biogenesis disorder
(MONDO_0019234)
 Moderate
PEX14
(HGNC:8856)
Zellweger spectrum disorders
(MONDO_0019609)
 Moderate
PEX13
(HGNC:8855)
Zellweger spectrum disorders
(MONDO_0019609)
 Strong
PEX14
(HGNC:8856)
peroxisome biogenesis disorder
(MONDO_0019234)
 Moderate
Showing 421–440 of 6681