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
HSD11B2
(HGNC:5209)
apparent mineralocorticoid excess
(MONDO_0009025)
 Definitive
HSD17B3
(HGNC:5212)
46,XY disorder of sex development
(MONDO_0020040)
 Definitive
HR
(HGNC:5172)
atrichia with papular lesions
(MONDO_0008847)
 Definitive
HPS1
(HGNC:5163)
Hermansky-Pudlak syndrome
(MONDO_0019312)
 Definitive
HPRT1
(HGNC:5157)
hypoxanthine guanine phosphoribosyltransferase partial deficiency
(MONDO_0010299)
 Strong
HPRT1
(HGNC:5157)
Lesch-Nyhan syndrome
(MONDO_0010298)
 Definitive
HPRT1
(HGNC:5157)
gout
(MONDO_0005393)
 Strong
HOXD13
(HGNC:5136)
synpolydactyly
(MONDO_0021651)
 Definitive
HPGD
(HGNC:5154)
primary hypertrophic osteoarthropathy
(MONDO_0016620)
 Definitive
HOXA13
(HGNC:5102)
hand-foot-genital syndrome
(MONDO_0007698)
 Strong
HMGCL
(HGNC:5005)
3-hydroxy-3-methylglutaric aciduria
(MONDO_0009520)
 Definitive
HMBS
(HGNC:4982)
porphyria
(MONDO_0037939)
 Definitive
HMBS
(HGNC:4982)
acute intermittent porphyria
(MONDO_0008294)
 Definitive
HLCS
(HGNC:4976)
holocarboxylase synthetase deficiency
(MONDO_0009666)
 Definitive
MNX1
(HGNC:4979)
Currarino triad
(MONDO_0008305)
 Definitive
ANK1
(HGNC:492)
hereditary spherocytosis
(MONDO_0019350)
 Definitive
HIBCH
(HGNC:4908)
3-hydroxyisobutyryl-CoA hydrolase deficiency
(MONDO_0009603)
 Strong
HGD
(HGNC:4892)
alkaptonuria
(MONDO_0008753)
 Definitive
CFHR1
(HGNC:4888)
atypical hemolytic-uremic syndrome
(MONDO_0016244)
 Moderate
HJV
(HGNC:4887)
hemochromatosis type 2
(MONDO_0019257)
 Definitive
Showing 4601–4620 of 6699