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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
HOXD13
(HGNC:5136)
synpolydactyly type 1
(MONDO_0008513)
 Definitive
HOXB13
(HGNC:5112)
prostate cancer
(MONDO_0008315)
 Definitive
HOXA2
(HGNC:5103)
microtia
(MONDO_0010920)
 Strong
HOXA1
(HGNC:5099)
Bosley-Salih-Alorainy syndrome
(MONDO_0019075)
 Strong
HOXA1
(HGNC:5099)
human HOXA1 syndromes
(MONDO_0011099)
 Strong
HNRNPH2
(HGNC:5042)
intellectual disability, X-linked, syndromic, Bain type
(MONDO_0010512)
 Strong
HNRNPH1
(HGNC:5041)
neurodevelopmental disorder
(MONDO_0700092)
 Limited
HNRNPA2B1
(HGNC:5033)
amyotrophic lateral sclerosis
(MONDO_0004976)
 Limited
HNRNPA1
(HGNC:5031)
amyotrophic lateral sclerosis
(MONDO_0004976)
 Moderate
HNMT
(HGNC:5028)
intellectual disability, autosomal recessive 51
(MONDO_0014759)
 Moderate
HNF4A
(HGNC:5024)
maturity-onset diabetes of the young
(MONDO_0018911)
 Definitive
HNF4A
(HGNC:5024)
monogenic diabetes
(MONDO_0015967)
 Definitive
HNF4A
(HGNC:5024)
maturity-onset diabetes of the young type 1
(MONDO_0007452)
 Strong
HMX1
(HGNC:5017)
oculoauricular syndrome
(MONDO_0012802)
 Moderate
HMOX1
(HGNC:5013)
heme oxygenase 1 deficiency
(MONDO_0013536)
 Definitive
HMOX1
(HGNC:5013)
chronic obstructive pulmonary disease
(MONDO_0005002)
 Moderate
HMGA1
(HGNC:5010)
type 2 diabetes mellitus
(MONDO_0005148)
 Disputed
HMGCS2
(HGNC:5008)
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
(MONDO_0011614)
 Definitive
HMGA2
(HGNC:5009)
Silver-Russell syndrome 5
(MONDO_0020795)
 Moderate
MNX1
(HGNC:4979)
permanent neonatal diabetes mellitus
(MONDO_0100164)
 Limited
Showing 1281–1300 of 6681