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
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
Showing 4441–4460 of 6699