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Over 2,000 gene–disease validation summaries are now available—no login required!

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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
SLC6A6
(HGNC:11052)
dilated cardiomyopathy
(MONDO_0005021)
 Moderate
SIGLEC1
(HGNC:11127)
pancreatic ductal adenocarcinoma
(MONDO_0005184)
 Limited
SMARCC2
(HGNC:11105)
Coffin-Siris syndrome
(MONDO_0015452)
 Strong
SLC35A1
(HGNC:11021)
congenital disorder of glycosylation
(MONDO_0015286)
 Moderate
SLC8A2
(HGNC:11069)
gastric cancer
(MONDO_0001056)
 Limited
SLC30A3
(HGNC:11014)
schizophrenia
(MONDO_0005090)
 Limited
SLC32A1
(HGNC:11018)
generalized epilepsy with febrile seizures plus
(MONDO_0018214)
 Moderate
SLC2A5
(HGNC:11010)
hereditary fructose intolerance
(MONDO_0009249)
 Refuted
SLC24A1
(HGNC:10975)
congenital stationary night blindness
(MONDO_0016293)
 Moderate
SLC12A7
(HGNC:10915)
congenital hydrocephalus
(MONDO_0016349)
 Limited
SLC25A10
(HGNC:10980)
mitochondrial DNA depletion syndrome
(MONDO_0018158)
 Limited
CCL1
(HGNC:10609)
chronic obstructive pulmonary disease
(MONDO_0005002)
 Limited
ST3GAL5
(HGNC:10872)
GM3 synthase deficiency
(MONDO_0018274)
 Definitive
SHOX2
(HGNC:10854)
atrial fibrillation
(MONDO_0004981)
 Moderate
SKP1
(HGNC:10899)
breast cancer
(MONDO_0007254)
 Limited
SI
(HGNC:10856)
congenital sucrase-isomaltase deficiency
(MONDO_0009114)
 Strong
SRSF5
(HGNC:10787)
bipolar disorder
(MONDO_0004985)
 Limited
SHMT2
(HGNC:10852)
neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities
(MONDO_0030866)
 Moderate
SETMAR
(HGNC:10762)
acute myeloid leukemia
(MONDO_0018874)
 Limited
SF3B2
(HGNC:10769)
craniofacial microsomia
(MONDO_0015397)
 Strong
Showing 6621–6640 of 6681