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

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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
PDGFB
(HGNC:8800)
dermatofibrosarcoma protuberans
(MONDO_0011934)
 Strong
PDHA1
(HGNC:8806)
pyruvate dehydrogenase deficiency
(MONDO_0019169)
 Definitive
PDE6B
(HGNC:8786)
retinitis pigmentosa
(MONDO_0019200)
 Definitive
ALDH7A1
(HGNC:877)
pyridoxine-dependent epilepsy
(MONDO_0009945)
 Definitive
ATP7B
(HGNC:870)
Wilson disease
(MONDO_0010200)
 Definitive
PDCD10
(HGNC:8761)
cerebral cavernous malformation
(MONDO_0000820)
 Definitive
ATP6V0A4
(HGNC:866)
distal renal tubular acidosis
(MONDO_0015827)
 Definitive
ATP7A
(HGNC:869)
Menkes disease
(MONDO_0010651)
 Definitive
ATP7A
(HGNC:869)
occipital horn syndrome
(MONDO_0010572)
 Definitive
PCCB
(HGNC:8654)
propionic acidemia
(MONDO_0011628)
 Definitive
PCCA
(HGNC:8653)
propionic acidemia
(MONDO_0011628)
 Definitive
PAX9
(HGNC:8623)
tooth agenesis
(MONDO_0005486)
 Definitive
PAX8
(HGNC:8622)
congenital hypothyroidism
(MONDO_0018612)
 Definitive
PAFAH1B1
(HGNC:8574)
lissencephaly spectrum disorders
(MONDO_0018838)
 Definitive
PAX3
(HGNC:8617)
Waardenburg syndrome
(MONDO_0018094)
 Definitive
PAX3
(HGNC:8617)
Waardenburg syndrome type 1
(MONDO_0008670)
 Definitive
OTOF
(HGNC:8515)
auditory neuropathy
(MONDO_0021944)
 Definitive
PABPN1
(HGNC:8565)
oculopharyngeal muscular dystrophy
(MONDO_0008116)
 Definitive
PAFAH1B1
(HGNC:8574)
Miller-Dieker lissencephaly syndrome
(MONDO_0009532)
 Definitive
OTC
(HGNC:8512)
ornithine carbamoyltransferase deficiency
(MONDO_0010703)
 Definitive
Showing 4421–4440 of 6681