Stats

Total associations
6699
Unique genes
4252
Unique diseases
3300
Gene–disease association summaries
Back to Open Access Summaries

Gene–Disease Browser

Need updated, customized, evidence‑backed summaries? Get it from the leaders in AI‑powered, evidence‑backed summaries provider.
Contact us
Gene Disease Score Actions
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)
 Moderate
SLC36A2
(HGNC:18762)
iminoglycinuria
(MONDO_0009448)
 Moderate
BBS7
(HGNC:18758)
Bardet-Biedl syndrome
(MONDO_0015229)
 Strong
SLC36A2
(HGNC:18762)
hyperglycinuria
(MONDO_0007677)
 Limited
RHOBTB2
(HGNC:18756)
developmental and epileptic encephalopathy, 64
(MONDO_0033373)
 Strong
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
NAA10
(HGNC:18704)
microphthalmia, syndromic 1
(MONDO_0010671)
 Moderate
COG6
(HGNC:18621)
COG6-congenital disorder of glycosylation
(MONDO_0013810)
 Strong
Showing 2941–2960 of 6699