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
POLG
(HGNC:9179)
autosomal recessive progressive external ophthalmoplegia
(MONDO_0016810)
 Moderate
POLG
(HGNC:9179)
spinocerebellar ataxia with epilepsy
(MONDO_0016809)
 Moderate
POLG
(HGNC:9179)
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
(MONDO_0011835)
 Strong
POLA1
(HGNC:9173)
X-linked reticulate pigmentary disorder
(MONDO_0010523)
 Strong
POLD1
(HGNC:9175)
mandibular hypoplasia-deafness-progeroid syndrome
(MONDO_0014157)
 Strong
POLE
(HGNC:9177)
IMAGe syndrome
(MONDO_0013873)
 Strong
POLA1
(HGNC:9173)
X-linked intellectual disability, van Esch type
(MONDO_0015601)
 Moderate
POLE
(HGNC:9177)
facial dysmorphism-immunodeficiency-livedo-short stature syndrome
(MONDO_0014058)
 Limited
PNLIP
(HGNC:9155)
pancreatic triacylglycerol lipase deficiency
(MONDO_0013700)
 Moderate
PNKP
(HGNC:9154)
ataxia - oculomotor apraxia type 4
(MONDO_0014557)
 Moderate
PNKP
(HGNC:9154)
microcephaly, seizures, and developmental delay
(MONDO_0013254)
 Strong
PNKD
(HGNC:9153)
Tourette syndrome
(MONDO_0007661)
 Limited
PHOX2B
(HGNC:9143)
Haddad syndrome
(MONDO_0020493)
 Strong
B2M
(HGNC:914)
MHC class I deficiency
(MONDO_0011476)
 Moderate
PRRX1
(HGNC:9142)
craniosynostosis
(MONDO_0015469)
 Moderate
EXOSC9
(HGNC:9137)
pontocerebellar hypoplasia type 1
(MONDO_0016396)
 Moderate
PMS2
(HGNC:9122)
mismatch repair cancer syndrome 1
(MONDO_0010159)
 Strong
PMS2
(HGNC:9122)
hereditary breast carcinoma
(MONDO_0016419)
 Limited
PMS2
(HGNC:9122)
ovarian cancer
(MONDO_0008170)
 Moderate
PMS2
(HGNC:9122)
prostate cancer
(MONDO_0008315)
 Limited
Showing 341–360 of 6699