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
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
Showing 4621–4640 of 6699