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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
Search gene/disease/HGNC/MONDO or name
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Gene
Disease
Score
Actions
LHCGR
(HGNC:6585)
familial male-limited precocious puberty
(MONDO_0008303)
Definitive
LIG4
(HGNC:6601)
Dubowitz syndrome
(MONDO_0009124)
Limited
LHB
(HGNC:6584)
hypogonadotropic hypogonadism 23 with or without anosmia
(MONDO_0009223)
Moderate
LEPR
(HGNC:6554)
obesity due to leptin receptor gene deficiency
(MONDO_0013992)
Strong
LEP
(HGNC:6553)
obesity due to congenital leptin deficiency
(MONDO_0013991)
Definitive
ARF3
(HGNC:654)
neurodevelopmental disorder
(MONDO_0700092)
Strong
LDLR
(HGNC:6547)
homozygous familial hypercholesterolemia
(MONDO_0018328)
Definitive
LDLR
(HGNC:6547)
hypercholesterolemia, familial, 1
(MONDO_0007750)
Definitive
LCT
(HGNC:6530)
congenital lactase deficiency
(MONDO_0009115)
Strong
LCAT
(HGNC:6522)
LCAT deficiency
(MONDO_0018999)
Definitive
LCAT
(HGNC:6522)
Norum disease
(MONDO_0009515)
Definitive
LBR
(HGNC:6518)
regressive spondylometaphyseal dysplasia
(MONDO_0018663)
Limited
LCAT
(HGNC:6522)
fish eye disease
(MONDO_0007620)
Strong
LBR
(HGNC:6518)
Pelger-Huet anomaly
(MONDO_0008214)
Strong
LBR
(HGNC:6518)
Greenberg dysplasia
(MONDO_0008974)
Strong
LARGE1
(HGNC:6511)
muscular dystrophy-dystroglycanopathy, type A
(MONDO_0000171)
Limited
LAMC2
(HGNC:6493)
junctional epidermolysis bullosa
(MONDO_0017612)
Definitive
LAMB3
(HGNC:6490)
generalized junctional epidermolysis bullosa non-Herlitz type
(MONDO_0019307)
Strong
LAMB3
(HGNC:6490)
junctional epidermolysis bullosa Herlitz type
(MONDO_0009182)
Definitive
LAMA4
(HGNC:6484)
dilated cardiomyopathy
(MONDO_0005021)
Limited
Showing 1001–1020 of 6699
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