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
VPS13A
(HGNC:1908)
chorea-acanthocytosis
(MONDO_0008695)
 Definitive
ASPM
(HGNC:19048)
autosomal recessive primary microcephaly
(MONDO_0016660)
 Definitive
KCNT1
(HGNC:18865)
epilepsy of infancy with migrating focal seizures
(MONDO_0100025)
 Definitive
NAA10
(HGNC:18704)
Ogden syndrome
(MONDO_0010457)
 Strong
ADA
(HGNC:186)
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
(MONDO_0007064)
 Definitive
ADA
(HGNC:186)
severe combined immunodeficiency
(MONDO_0015974)
 Definitive
DDX41
(HGNC:18674)
acute myeloid leukemia
(MONDO_0018874)
 Definitive
DEPDC5
(HGNC:18423)
familial focal epilepsy with variable foci
(MONDO_0020310)
 Definitive
LDLRAP1
(HGNC:18640)
hypercholesterolemia, familial, 4
(MONDO_0011374)
 Definitive
DEPDC5
(HGNC:18423)
focal epilepsy
(MONDO_0005384)
 Definitive
ADA2
(HGNC:1839)
deficiency of adenosine deaminase 2
(MONDO_0100317)
 Definitive
ADA2
(HGNC:1839)
polyarteritis nodosa
(MONDO_0019170)
 Definitive
ADA2
(HGNC:1839)
vasculitis due to ADA2 deficiency
(MONDO_0014306)
 Definitive
FKBP10
(HGNC:18169)
osteogenesis imperfecta
(MONDO_0019019)
 Definitive
FKBP10
(HGNC:18169)
Bruck syndrome
(MONDO_0017195)
 Strong
TNFRSF13B
(HGNC:18153)
common variable immunodeficiency
(MONDO_0015517)
 Moderate
MFRP
(HGNC:18121)
retinitis pigmentosa
(MONDO_0019200)
 Moderate
CDSN
(HGNC:1802)
peeling skin syndrome 1
(MONDO_0024548)
 Strong
NAGS
(HGNC:17996)
hyperammonemia due to N-acetylglutamate synthase deficiency
(MONDO_0009377)
 Definitive
NAGS
(HGNC:17996)
urea cycle disorder
(MONDO_0004739)
 Strong
Showing 4941–4960 of 6699