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Gene–disease association summaries
Gene–Disease Browser
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| Gene |
Disease |
Score |
Actions |
|
EFNB1
(HGNC:3226)
|
craniofrontonasal syndrome
(MONDO_0010570)
|
Definitive
|
|
|
AGL
(HGNC:321)
|
glycogen storage disease III
(MONDO_0009291)
|
Definitive
|
|
|
EDNRB
(HGNC:3180)
|
Hirschsprung disease
(MONDO_0018309)
|
Strong
|
|
|
EDNRB
(HGNC:3180)
|
Waardenburg syndrome
(MONDO_0018094)
|
Strong
|
|
|
EDA
(HGNC:3157)
|
ectodermal dysplasia syndrome
(MONDO_0019287)
|
Strong
|
|
|
EDNRB
(HGNC:3180)
|
Waardenburg syndrome type 4A
(MONDO_0010192)
|
Moderate
|
|
|
ECM1
(HGNC:3153)
|
lipoid proteinosis
(MONDO_0009530)
|
Definitive
|
|
|
EDA
(HGNC:3157)
|
hypohidrotic ectodermal dysplasia
(MONDO_0016535)
|
Definitive
|
|
|
EDA
(HGNC:3157)
|
X-linked hypohidrotic ectodermal dysplasia
(MONDO_0010585)
|
Definitive
|
|
|
ECHS1
(HGNC:3151)
|
Leigh syndrome
(MONDO_0009723)
|
Definitive
|
|
|
TYMP
(HGNC:3148)
|
mitochondrial neurogastrointestinal encephalomyopathy
(MONDO_0017575)
|
Definitive
|
|
|
ECEL1
(HGNC:3147)
|
distal arthrogryposis type 5D
(MONDO_0014028)
|
Strong
|
|
|
DYRK1A
(HGNC:3091)
|
DYRK1A-related intellectual disability syndrome
(MONDO_0013578)
|
Definitive
|
|
|
EFTUD2
(HGNC:30858)
|
mandibulofacial dysostosis-microcephaly syndrome
(MONDO_0012516)
|
Definitive
|
|
|
TRAPPC9
(HGNC:30832)
|
intellectual disability
(MONDO_0001071)
|
Strong
|
|
|
PNPLA2
(HGNC:30802)
|
triglyceride deposit cardiomyovasculopathy
(MONDO_0035423)
|
Moderate
|
|
|
PNPLA2
(HGNC:30802)
|
neutral lipid storage myopathy
(MONDO_0012545)
|
Definitive
|
|
|
STRA6
(HGNC:30650)
|
Matthew-Wood syndrome
(MONDO_0011010)
|
Strong
|
|
|
DSPP
(HGNC:3054)
|
dentinogenesis imperfecta
(MONDO_0018849)
|
Definitive
|
|
|
SLC46A1
(HGNC:30521)
|
hereditary folate malabsorption
(MONDO_0009238)
|
Definitive
|
|