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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
ATP6V1A
(HGNC:851)
developmental and epileptic encephalopathy 93
(MONDO_0020632)
 Moderate
OTOF
(HGNC:8515)
autosomal recessive nonsyndromic hearing loss 9
(MONDO_0010986)
 Definitive
OSMR
(HGNC:8507)
familial primary localized cutaneous amyloidosis
(MONDO_0007101)
 Strong
ACACA
(HGNC:84)
acetyl-coa carboxylase deficiency
(MONDO_0013493)
 Moderate
ORC4
(HGNC:8490)
Meier-Gorlin syndrome
(MONDO_0016817)
 Strong
ORC1
(HGNC:8487)
Meier-Gorlin syndrome
(MONDO_0016817)
 Strong
ATP5F1A
(HGNC:823)
mitochondrial disease
(MONDO_0044970)
 Strong
SIGMAR1
(HGNC:8157)
juvenile amyotrophic lateral sclerosis
(MONDO_0017593)
 Strong
SIGMAR1
(HGNC:8157)
autosomal recessive distal spinal muscular atrophy 2
(MONDO_0011585)
 Strong
OPA3
(HGNC:8142)
3-methylglutaconic aciduria type 3
(MONDO_0009787)
 Definitive
OPLAH
(HGNC:8149)
5-oxoprolinase deficiency
(MONDO_0009825)
 Moderate
ONECUT1
(HGNC:8138)
neonatal diabetes mellitus
(MONDO_0016391)
 Moderate
OGDH
(HGNC:8124)
oxoglutaricaciduria
(MONDO_0008759)
 Moderate
ATP2A1
(HGNC:811)
Brody myopathy
(MONDO_0010977)
 Definitive
TENM1
(HGNC:8117)
cerebral palsy
(MONDO_0006497)
 Limited
ODC1
(HGNC:8109)
neurodevelopmental disorder with alopecia and brain abnormalities
(MONDO_0033642)
 Moderate
OCRL
(HGNC:8108)
Dent disease type 2
(MONDO_0010359)
 Strong
OCA2
(HGNC:8101)
oculocutaneous albinism type 2
(MONDO_0008746)
 Definitive
NYX
(HGNC:8082)
congenital stationary night blindness
(MONDO_0016293)
 Definitive
NTRK3
(HGNC:8033)
congenital heart disease
(MONDO_0005453)
 Limited
Showing 521–540 of 6681