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Total associations
6699
Unique genes
4252
Unique diseases
3300
Gene–disease association summaries
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Gene–Disease Browser
Search gene/disease/HGNC/MONDO or name
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Gene
Disease
Score
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HOXA2
(HGNC:5103)
microtia
(MONDO_0010920)
Moderate
HOXA1
(HGNC:5099)
Bosley-Salih-Alorainy syndrome
(MONDO_0019075)
Strong
HOXA1
(HGNC:5099)
human HOXA1 syndromes
(MONDO_0011099)
Moderate
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)
Moderate
HMOX1
(HGNC:5013)
chronic obstructive pulmonary disease
(MONDO_0005002)
Disputed
HMGA1
(HGNC:5010)
type 2 diabetes mellitus
(MONDO_0005148)
Disputed
HMGCS2
(HGNC:5008)
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
(MONDO_0011614)
Strong
HMGA2
(HGNC:5009)
Silver-Russell syndrome 5
(MONDO_0020795)
Moderate
MNX1
(HGNC:4979)
permanent neonatal diabetes mellitus
(MONDO_0100164)
Limited
MNX1
(HGNC:4979)
neonatal diabetes mellitus
(MONDO_0016391)
Limited
RIPK4
(HGNC:496)
ectodermal dysplasia syndrome
(MONDO_0019287)
Moderate
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