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
SEPSECS
(HGNC:30605)
pontocerebellar hypoplasia type 2
(MONDO_0016759)
 Moderate
PARS2
(HGNC:30563)
mitochondrial disease
(MONDO_0044970)
 Moderate
TXNL4A
(HGNC:30551)
choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
(MONDO_0012064)
 Strong
DTNA
(HGNC:3057)
Meniere disease
(MONDO_0007972)
 Limited
DNAAF1
(HGNC:30539)
primary ciliary dyskinesia
(MONDO_0016575)
 Definitive
MARCHF6
(HGNC:30550)
benign adult familial myoclonic epilepsy
(MONDO_0019448)
 Disputed
DSPP
(HGNC:3054)
dentinogenesis imperfecta type 3
(MONDO_0007442)
 Strong
DSPP
(HGNC:3054)
dentinogenesis imperfecta type 2
(MONDO_0007441)
 Strong
DSP
(HGNC:3052)
striate palmoplantar keratoderma
(MONDO_0018865)
 Moderate
DSPP
(HGNC:3054)
dentin dysplasia type II
(MONDO_0007437)
 Strong
DSP
(HGNC:3052)
arrhythmogenic cardiomyopathy with wooly hair and keratoderma
(MONDO_0011581)
 Strong
DSP
(HGNC:3052)
severe dermatitis-multiple allergies-metabolic wasting syndrome
(MONDO_0014218)
 Limited
DSP
(HGNC:3052)
cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
(MONDO_0014355)
 Moderate
DSP
(HGNC:3052)
lethal acantholytic epidermolysis bullosa
(MONDO_0012323)
 Moderate
YIF1B
(HGNC:30511)
Kaya-Barakat-Masson syndrome
(MONDO_0030878)
 Limited
DSP
(HGNC:3052)
hypertrophic cardiomyopathy
(MONDO_0005045)
 Limited
PRRT2
(HGNC:30500)
neurodevelopmental disorder
(MONDO_0700092)
 Limited
PRRT2
(HGNC:30500)
benign familial infantile epilepsy
(MONDO_0017615)
 Definitive
PRRT2
(HGNC:30500)
infantile convulsions and choreoathetosis
(MONDO_0011178)
 Definitive
DSG2
(HGNC:3049)
dilated cardiomyopathy
(MONDO_0005021)
 Limited
Showing 1921–1940 of 6699