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Over 2,000 gene–disease validation summaries are now available—no login required!

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Stats

Total associations
6681
Unique genes
4239
Unique diseases
3297
Gene–disease association summaries
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Gene–Disease Browser

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Gene Disease Score Actions
HSPA9
(HGNC:5244)
autosomal recessive sideroblastic anemia
(MONDO_0016828)
 Moderate
HSF4
(HGNC:5227)
cataract 5 multiple types
(MONDO_0007290)
 Strong
HSD3B2
(HGNC:5218)
congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
(MONDO_0008727)
 Definitive
HSD17B3
(HGNC:5212)
46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
(MONDO_0009916)
 Definitive
HSD11B1
(HGNC:5208)
cortisone reductase deficiency
(MONDO_0000193)
 Moderate
HS6ST1
(HGNC:5201)
Kallmann syndrome
(MONDO_0018800)
 Limited
HS6ST1
(HGNC:5201)
hypogonadotropic hypogonadism
(MONDO_0018555)
 Moderate
ABCC1
(HGNC:51)
autosomal dominant nonsyndromic hearing loss
(MONDO_0019587)
 Limited
HRAS
(HGNC:5173)
Costello syndrome
(MONDO_0009026)
 Definitive
HRAS
(HGNC:5173)
Noonan syndrome-like disorder with loose anagen hair
(MONDO_0011899)
 Limited
HRAS
(HGNC:5173)
rhabdomyosarcoma
(MONDO_0005212)
 Limited
HR
(HGNC:5172)
hypotrichosis 4
(MONDO_0100522)
 Strong
HR
(HGNC:5172)
Marie Unna hereditary hypotrichosis
(MONDO_0018631)
 Definitive
HPGD
(HGNC:5154)
hypertrophic osteoarthropathy, primary, autosomal recessive, 1
(MONDO_0024546)
 Strong
HR
(HGNC:5172)
alopecia universalis congenita
(MONDO_0008757)
 Strong
HPGD
(HGNC:5154)
isolated congenital digital clubbing
(MONDO_0007343)
 Moderate
HPGD
(HGNC:5154)
cranio-osteoarthropathy
(MONDO_0015466)
 Strong
HPCA
(HGNC:5144)
torsion dystonia 2
(MONDO_0009141)
 Strong
HOXD13
(HGNC:5136)
brachydactyly type E
(MONDO_0019677)
 Moderate
HOXD10
(HGNC:5133)
congenital vertical talus
(MONDO_0008652)
 Moderate
Showing 1261–1280 of 6681