Stats
Gene–disease association summaries
Gene–Disease Browser
Need updated, customized, evidence‑backed summaries?
Get it from the leaders in AI‑powered, evidence‑backed summaries provider.
| 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
|
|