Variant Synonymizer: Platform to identify mutations defined in different ways is available now!

VarSy

Over 2,000 gene–disease validation summaries are now available—no login required!

Browse Summaries

Stats

Total associations
6681
Unique genes
4239
Unique diseases
3297
Gene–disease association summaries
Back to Open Access Summaries

Gene–Disease Browser

Need updated, customized, evidence‑backed summaries? Get it from the leaders in AI‑powered, evidence‑backed summaries provider.
Contact us
Gene Disease Score Actions
LIG4
(HGNC:6601)
DNA ligase IV deficiency
(MONDO_0011686)
 Definitive
LIPC
(HGNC:6619)
hyperlipidemia due to hepatic triglyceride lipase deficiency
(MONDO_0013533)
 Moderate
LHCGR
(HGNC:6585)
familial male-limited precocious puberty
(MONDO_0008303)
 Strong
LIG4
(HGNC:6601)
Dubowitz syndrome
(MONDO_0009124)
 Moderate
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)
 Moderate
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)
 Definitive
LCAT
(HGNC:6522)
LCAT deficiency
(MONDO_0018999)
 Definitive
LCAT
(HGNC:6522)
Norum disease
(MONDO_0009515)
 Definitive
LBR
(HGNC:6518)
regressive spondylometaphyseal dysplasia
(MONDO_0018663)
 Moderate
LCAT
(HGNC:6522)
fish eye disease
(MONDO_0007620)
 Strong
LBR
(HGNC:6518)
Pelger-Huet anomaly
(MONDO_0008214)
 Definitive
LBR
(HGNC:6518)
Greenberg dysplasia
(MONDO_0008974)
 Definitive
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
Showing 981–1000 of 6681