Variant Synonymizer: Platform to identify mutations defined in different ways is available now!

VarSy

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

Browse Summaries

Stats

Total associations
6681
Unique genes
4239
Unique diseases
3297
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
PKLR
(HGNC:9020)
pyruvate kinase deficiency of red cells
(MONDO_0009950)
 Definitive
PKD2
(HGNC:9009)
autosomal dominant polycystic kidney disease
(MONDO_0004691)
 Definitive
PITX2
(HGNC:9005)
Axenfeld-Rieger syndrome
(MONDO_0019187)
 Definitive
ACADM
(HGNC:89)
medium chain acyl-CoA dehydrogenase deficiency
(MONDO_0008721)
 Definitive
AVPR2
(HGNC:897)
nephrogenic diabetes insipidus
(MONDO_0016383)
 Definitive
AVPR2
(HGNC:897)
nephrogenic syndrome of inappropriate antidiuresis
(MONDO_0010356)
 Definitive
PIGN
(HGNC:8967)
multiple congenital anomalies-hypotonia-seizures syndrome 1
(MONDO_0013563)
 Definitive
PIGA
(HGNC:8957)
paroxysmal nocturnal hemoglobinuria
(MONDO_0100244)
 Definitive
PHKA2
(HGNC:8926)
disorder of glycogen metabolism
(MONDO_0002412)
 Definitive
PGM1
(HGNC:8905)
congenital disorder of glycosylation
(MONDO_0015286)
 Definitive
PHEX
(HGNC:8918)
hypophosphatemic rickets
(MONDO_0024300)
 Definitive
PHEX
(HGNC:8918)
X-linked hypophosphatemic rickets
(MONDO_0020720)
 Definitive
PHEX
(HGNC:8918)
X-linked dominant hypophosphatemic rickets
(MONDO_0010619)
 Definitive
PGM1
(HGNC:8905)
PGM1-congenital disorder of glycosylation
(MONDO_0013968)
 Definitive
PGK1
(HGNC:8896)
glycogen storage disease due to phosphoglycerate kinase 1 deficiency
(MONDO_0010392)
 Strong
PFKM
(HGNC:8877)
glycogen storage disease VII
(MONDO_0009295)
 Strong
PEX1
(HGNC:8850)
Zellweger spectrum disorders
(MONDO_0019609)
 Definitive
PEX1
(HGNC:8850)
peroxisome biogenesis disorder
(MONDO_0019234)
 Definitive
PEPD
(HGNC:8840)
prolidase deficiency
(MONDO_0008221)
 Definitive
PDGFB
(HGNC:8800)
basal ganglia calcification, idiopathic, 1
(MONDO_0024538)
 Definitive
Showing 4401–4420 of 6681