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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
CFTR
(HGNC:1884)
hereditary chronic pancreatitis
(MONDO_0008185)
 Moderate
PPP1R13L
(HGNC:18838)
dilated cardiomyopathy
(MONDO_0005021)
 Moderate
PMPCA
(HGNC:18667)
mitochondrial disease
(MONDO_0044970)
 Limited
CTHRC1
(HGNC:18831)
Barrett esophagus
(MONDO_0013662)
 Limited
NDUFAF1
(HGNC:18828)
mitochondrial complex I deficiency
(MONDO_0100133)
 Limited
LIPI
(HGNC:18821)
hypertriglyceridemia
(MONDO_0005347)
 Limited
NDUFAF1
(HGNC:18828)
mitochondrial disease
(MONDO_0044970)
 Limited
CAMTA1
(HGNC:18806)
cerebellar dysfunction with variable cognitive and behavioral abnormalities
(MONDO_0013886)
 Strong
HPS6
(HGNC:18817)
Hermansky-Pudlak syndrome 6
(MONDO_0013558)
 Strong
ZFP57
(HGNC:18791)
transient neonatal diabetes mellitus
(MONDO_0020525)
 Limited
SLC36A2
(HGNC:18762)
iminoglycinuria
(MONDO_0009448)
 Moderate
BBS7
(HGNC:18758)
Bardet-Biedl syndrome
(MONDO_0015229)
 Strong
SLC36A2
(HGNC:18762)
hyperglycinuria
(MONDO_0007677)
 Moderate
RHOBTB2
(HGNC:18756)
developmental and epileptic encephalopathy, 64
(MONDO_0033373)
 Definitive
SLURP1
(HGNC:18746)
palmoplantar keratosis
(MONDO_0006590)
 Moderate
IFT27
(HGNC:18626)
Bardet-Biedl syndrome
(MONDO_0015229)
 Moderate
DNAI2
(HGNC:18744)
primary ciliary dyskinesia
(MONDO_0016575)
 Strong
GRIP1
(HGNC:18708)
Fraser syndrome
(MONDO_0009046)
 Moderate
PMPCA
(HGNC:18667)
autosomal recessive spinocerebellar ataxia 2
(MONDO_0008943)
 Limited
CDK5RAP2
(HGNC:18672)
autosomal recessive primary microcephaly
(MONDO_0016660)
 Strong
Showing 2921–2940 of 6681