|
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
|
|