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
EXT1
(HGNC:3512)
trichorhinophalangeal syndrome type II
(MONDO_0007874)
 Limited
MECOM
(HGNC:3498)
acute myeloid leukemia
(MONDO_0018874)
 Moderate
EXT1
(HGNC:3512)
hereditary multiple osteochondromas
(MONDO_0005508)
 Definitive
EVC
(HGNC:3497)
Ellis-van Creveld syndrome
(MONDO_0009162)
 Definitive
ETFDH
(HGNC:3483)
multiple acyl-CoA dehydrogenase deficiency
(MONDO_0009282)
 Definitive
ETFA
(HGNC:3481)
multiple acyl-CoA dehydrogenase deficiency
(MONDO_0009282)
 Definitive
ERG
(HGNC:3446)
acute myeloid leukemia
(MONDO_0018874)
 Moderate
AHCY
(HGNC:343)
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
(MONDO_0013404)
 Strong
ERCC8
(HGNC:3439)
Cockayne syndrome
(MONDO_0016006)
 Definitive
AGXT
(HGNC:341)
primary hyperoxaluria type 1
(MONDO_0009823)
 Definitive
ENG
(HGNC:3349)
hereditary hemorrhagic telangiectasia
(MONDO_0019180)
 Definitive
EPM2A
(HGNC:3413)
Lafora disease
(MONDO_0009697)
 Definitive
EMD
(HGNC:3331)
Emery-Dreifuss muscular dystrophy
(MONDO_0016830)
 Definitive
AGRN
(HGNC:329)
congenital myasthenic syndrome
(MONDO_0018940)
 Strong
EIF2B5
(HGNC:3261)
leukoencephalopathy with vanishing white matter
(MONDO_0800448)
 Definitive
EIF2B3
(HGNC:3259)
leukoencephalopathy with vanishing white matter
(MONDO_0800448)
 Strong
AGPAT2
(HGNC:325)
congenital generalized lipodystrophy
(MONDO_0006536)
 Definitive
EIF2B2
(HGNC:3258)
leukoencephalopathy with vanishing white matter
(MONDO_0800448)
 Definitive
EIF2AK3
(HGNC:3255)
Wolcott-Rallison syndrome
(MONDO_0009192)
 Definitive
EIF1AX
(HGNC:3250)
uveal melanoma
(MONDO_0006486)
 Strong
Showing 4721–4740 of 6699