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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
FBXL19
(HGNC:25300)
Alzheimer disease
(MONDO_0004975)
Limited
ANO6
(HGNC:25240)
Scott syndrome
(MONDO_0009885)
Limited
SGSM3
(HGNC:25228)
intellectual disability
(MONDO_0001071)
Limited
TMEM240
(HGNC:25186)
spinocerebellar ataxia type 21
(MONDO_0011833)
Strong
SPATA17
(HGNC:25184)
male infertility
(MONDO_0005372)
Limited
GPRASP2
(HGNC:25169)
autism spectrum disorder
(MONDO_0005258)
Limited
LRSAM1
(HGNC:25135)
Charcot-Marie-Tooth disease
(MONDO_0015626)
Strong
OTULIN
(HGNC:25118)
infantile-onset periodic fever-panniculitis-dermatosis syndrome
(MONDO_0014912)
Strong
AP5B1
(HGNC:25104)
sarcoidosis
(MONDO_0019338)
Limited
SGO1
(HGNC:25088)
gastric cancer
(MONDO_0001056)
Limited
SPICE1
(HGNC:25083)
sarcoidosis
(MONDO_0019338)
Limited
METTL5
(HGNC:25006)
intellectual disability
(MONDO_0001071)
Moderate
ASTE1
(HGNC:25021)
Lynch syndrome
(MONDO_0005835)
Disputed
UBE2T
(HGNC:25009)
Fanconi anemia
(MONDO_0019391)
Strong
CFAP263
(HGNC:25002)
primary biliary cholangitis
(MONDO_0005388)
Limited
CFAP263
(HGNC:25002)
systemic sclerosis
(MONDO_0005100)
Limited
HS1BP3
(HGNC:24979)
benign essential blepharospasm
(MONDO_0011728)
Limited
EIF2AK1
(HGNC:24921)
autism
(MONDO_0005260)
Limited
HS1BP3
(HGNC:24979)
Parkinson disease
(MONDO_0005180)
Refuted
HS1BP3
(HGNC:24979)
essential tremor
(MONDO_0003233)
Disputed
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