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Gene–disease association summaries
Gene–Disease Browser
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| Gene |
Disease |
Score |
Actions |
|
HEXB
(HGNC:4879)
|
Sandhoff disease
(MONDO_0010006)
|
Definitive
|
|
|
HJV
(HGNC:4887)
|
hereditary hemochromatosis
(MONDO_0006507)
|
Strong
|
|
|
HEXA
(HGNC:4878)
|
GM2 gangliosidosis
(MONDO_0017720)
|
Definitive
|
|
|
HEXA
(HGNC:4878)
|
Tay-Sachs disease
(MONDO_0010100)
|
Definitive
|
|
|
HTT
(HGNC:4851)
|
juvenile Huntington disease
(MONDO_0016621)
|
Strong
|
|
|
HESX1
(HGNC:4877)
|
panhypopituitarism
(MONDO_0019591)
|
Moderate
|
|
|
HTT
(HGNC:4851)
|
Huntington disease
(MONDO_0007739)
|
Definitive
|
|
|
HADHB
(HGNC:4803)
|
mitochondrial trifunctional protein deficiency
(MONDO_0012172)
|
Definitive
|
|
|
HADHA
(HGNC:4801)
|
mitochondrial trifunctional protein deficiency
(MONDO_0012172)
|
Definitive
|
|
|
GUSB
(HGNC:4696)
|
mucopolysaccharidosis type 7
(MONDO_0009662)
|
Definitive
|
|
|
GUCY2D
(HGNC:4689)
|
Leber congenital amaurosis
(MONDO_0018998)
|
Definitive
|
|
|
GTF2I
(HGNC:4659)
|
Williams syndrome
(MONDO_0008678)
|
Moderate
|
|
|
GSN
(HGNC:4620)
|
Finnish type amyloidosis
(MONDO_0007097)
|
Definitive
|
|
|
AMH
(HGNC:464)
|
persistent Mullerian duct syndrome
(MONDO_0009857)
|
Strong
|
|
|
GRIN2A
(HGNC:4585)
|
epilepsy
(MONDO_0005027)
|
Definitive
|
|
|
GPC3
(HGNC:4451)
|
Simpson-Golabi-Behmel syndrome type 1
(MONDO_0020602)
|
Definitive
|
|
|
ALX4
(HGNC:450)
|
Potocki-Shaffer syndrome
(MONDO_0011022)
|
Moderate
|
|
|
GP1BA
(HGNC:4439)
|
Bernard-Soulier syndrome
(MONDO_0009276)
|
Definitive
|
|
|
SETX
(HGNC:445)
|
spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
(MONDO_0018996)
|
Definitive
|
|
|
GP9
(HGNC:4444)
|
Bernard-Soulier syndrome
(MONDO_0009276)
|
Definitive
|
|