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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
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LDB3
(HGNC:15710)
familial dilated cardiomyopathy
(MONDO_0016333)
Limited
ALG9
(HGNC:15672)
ALG9-congenital disorder of glycosylation
(MONDO_0012117)
Strong
LDB3
(HGNC:15710)
arrhythmogenic right ventricular cardiomyopathy
(MONDO_0016587)
Limited
LDB3
(HGNC:15710)
dilated cardiomyopathy
(MONDO_0005021)
Limited
LDB3
(HGNC:15710)
myofibrillar myopathy 4
(MONDO_0012277)
Moderate
CTTNBP2
(HGNC:15679)
autism spectrum disorder
(MONDO_0005258)
Limited
PHIP
(HGNC:15673)
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
(MONDO_0035133)
Strong
ALG9
(HGNC:15672)
Gillessen-Kaesbach-Nishimura syndrome
(MONDO_0009890)
Moderate
ALG9
(HGNC:15672)
autosomal dominant polycystic kidney disease
(MONDO_0004691)
Moderate
KLHL7
(HGNC:15646)
retinitis pigmentosa
(MONDO_0019200)
Moderate
TLR7
(HGNC:15631)
systemic lupus erythematosus
(MONDO_0007915)
Strong
KLHL7
(HGNC:15646)
PERCHING syndrome
(MONDO_0014890)
Limited
NBAS
(HGNC:15625)
infantile liver failure syndrome 2
(MONDO_0014659)
Strong
NBAS
(HGNC:15625)
short stature-optic atrophy-Pelger-HuC+t anomaly syndrome
(MONDO_0013889)
Strong
HAMP
(HGNC:15598)
hemochromatosis type 2
(MONDO_0019257)
Strong
SETBP1
(HGNC:15573)
intellectual disability, autosomal dominant 29
(MONDO_0014482)
Strong
SS18L1
(HGNC:15592)
amyotrophic lateral sclerosis
(MONDO_0004976)
Limited
SETBP1
(HGNC:15573)
Schinzel-Giedion syndrome
(MONDO_0010010)
Definitive
IL36RN
(HGNC:15561)
pustulosis palmaris et plantaris
(MONDO_0015597)
Limited
CHCHD10
(HGNC:15559)
amyotrophic lateral sclerosis
(MONDO_0004976)
Moderate
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