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
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
Showing 541–560 of 6699