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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
CDC73
(HGNC:16783)
parathyroid gland carcinoma
(MONDO_0012004)
 Definitive
CDC73
(HGNC:16783)
familial isolated hyperparathyroidism
(MONDO_0015027)
 Strong
LITAF
(HGNC:16841)
Charcot-Marie-Tooth disease
(MONDO_0015626)
 Strong
COQ8A
(HGNC:16812)
coenzyme Q10 deficiency
(MONDO_0018151)
 Strong
COQ8A
(HGNC:16812)
autosomal recessive ataxia due to ubiquinone deficiency
(MONDO_0012784)
 Moderate
TAOK2
(HGNC:16835)
autism spectrum disorder
(MONDO_0005258)
 Moderate
ZNF423
(HGNC:16762)
nephronophthisis
(MONDO_0019005)
 Limited
CD3D
(HGNC:1673)
immunodeficiency 19
(MONDO_0014280)
 Limited
CDC73
(HGNC:16783)
hyperparathyroidism 2 with jaw tumors
(MONDO_0007768)
 Definitive
FBXO32
(HGNC:16731)
dilated cardiomyopathy
(MONDO_0005021)
 Moderate
ZBTB11
(HGNC:16740)
intellectual developmental disorder, autosomal recessive 69
(MONDO_0032715)
 Strong
DHX30
(HGNC:16716)
neurodevelopmental disorder with severe motor impairment and absent language
(MONDO_0060622)
 Strong
BCAP31
(HGNC:16695)
severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
(MONDO_0010334)
 Moderate
MCEE
(HGNC:16732)
methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
(MONDO_0009615)
 Moderate
ZFPM2
(HGNC:16700)
tetralogy of fallot
(MONDO_0008542)
 Limited
TUBGCP4
(HGNC:16691)
microcephaly and chorioretinopathy 3
(MONDO_0014592)
 Moderate
SCARB2
(HGNC:1665)
progressive myoclonus epilepsy
(MONDO_0020074)
 Strong
SCARB2
(HGNC:1665)
action myoclonus-renal failure syndrome
(MONDO_0009699)
 Strong
SCARB2
(HGNC:1665)
Unverricht-Lundborg syndrome
(MONDO_0009698)
 Strong
IFITM5
(HGNC:16644)
osteogenesis imperfecta type 5
(MONDO_0012591)
 Definitive
Showing 3181–3200 of 6681