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Gene–disease association summaries
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
|
|