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
TPM2
(HGNC:12011)
arthrogryposis, distal, type 1A
(MONDO_0007157)
 Moderate
TPM1
(HGNC:12010)
arrhythmogenic right ventricular cardiomyopathy
(MONDO_0016587)
 Limited
TPM1
(HGNC:12010)
left ventricular noncompaction
(MONDO_0018901)
 Moderate
TPI1
(HGNC:12009)
triosephosphate isomerase deficiency
(MONDO_0014221)
 Strong
ACOX1
(HGNC:119)
Mitchell syndrome
(MONDO_0030073)
 Moderate
ACOX1
(HGNC:119)
peroxisomal acyl-CoA oxidase deficiency
(MONDO_0009919)
 Strong
TP53
(HGNC:11998)
Li-Fraumeni syndrome
(MONDO_0018875)
 Definitive
MED12
(HGNC:11957)
cholestasis-pigmentary retinopathy-cleft palate syndrome
(MONDO_0012997)
 Strong
TP53
(HGNC:11998)
choroid plexus carcinoma
(MONDO_0016718)
 Strong
TP53
(HGNC:11998)
breast cancer
(MONDO_0007254)
 Definitive
TP53
(HGNC:11998)
colorectal cancer
(MONDO_0005575)
 Strong
TP53
(HGNC:11998)
sarcoma
(MONDO_0005089)
 Definitive
TOP2B
(HGNC:11990)
B-cell immunodeficiency, distal limb anomalies, and urogenital malformations
(MONDO_0012243)
 Limited
TOP2B
(HGNC:11990)
neurodevelopmental disorder
(MONDO_0700092)
 Limited
CNPY3
(HGNC:11968)
West syndrome
(MONDO_0018097)
 Moderate
MED12
(HGNC:11957)
X-linked intellectual disability with marfanoid habitus
(MONDO_0010655)
 Moderate
EP400
(HGNC:11958)
neurodevelopmental disorder
(MONDO_0700092)
 Moderate
MED12
(HGNC:11957)
blepharophimosis - intellectual disability syndrome, MKB type
(MONDO_0010477)
 Moderate
TNNT3
(HGNC:11950)
nemaline myopathy
(MONDO_0018958)
 Moderate
TNNT2
(HGNC:11949)
left ventricular noncompaction
(MONDO_0018901)
 Limited
Showing 3781–3800 of 6699