Stats
Gene–disease association summaries
Gene–Disease Browser
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| Gene |
Disease |
Score |
Actions |
|
OSMR
(HGNC:8507)
|
familial primary localized cutaneous amyloidosis
(MONDO_0007101)
|
Strong
|
|
|
ACACA
(HGNC:84)
|
acetyl-coa carboxylase deficiency
(MONDO_0013493)
|
Limited
|
|
|
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)
|
Moderate
|
|
|
SIGMAR1
(HGNC:8157)
|
juvenile amyotrophic lateral sclerosis
(MONDO_0017593)
|
Limited
|
|
|
SIGMAR1
(HGNC:8157)
|
autosomal recessive distal spinal muscular atrophy 2
(MONDO_0011585)
|
Moderate
|
|
|
OPA3
(HGNC:8142)
|
3-methylglutaconic aciduria type 3
(MONDO_0009787)
|
Strong
|
|
|
OPLAH
(HGNC:8149)
|
5-oxoprolinase deficiency
(MONDO_0009825)
|
Moderate
|
|
|
ONECUT1
(HGNC:8138)
|
neonatal diabetes mellitus
(MONDO_0016391)
|
Moderate
|
|
|
OGDH
(HGNC:8124)
|
oxoglutaricaciduria
(MONDO_0008759)
|
Limited
|
|
|
ATP2A1
(HGNC:811)
|
Brody myopathy
(MONDO_0010977)
|
Strong
|
|
|
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)
|
Strong
|
|
|
NTRK3
(HGNC:8033)
|
congenital heart disease
(MONDO_0005453)
|
Limited
|
|
|
NUP88
(HGNC:8067)
|
fetal akinesia deformation sequence 1
(MONDO_0100101)
|
Moderate
|
|
|
NTHL1
(HGNC:8028)
|
breast cancer
(MONDO_0007254)
|
Moderate
|
|