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Gene–disease association summaries
Gene–Disease Browser
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| Gene |
Disease |
Score |
Actions |
|
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)
|
Strong
|
|
|
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
|
|
|
OTC
(HGNC:8512)
|
urea cycle disorder
(MONDO_0004739)
|
Definitive
|
|
|
ATP2A2
(HGNC:812)
|
acrokeratosis verruciformis
(MONDO_0007048)
|
Moderate
|
|