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
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
Showing 4741–4760 of 6699