Phenotype: Increased LDL cholesterol concentration (HP:0003141)
Associated genes and diseases:
gene_symbol: LDLR
disease_id: ORPHA:391665
disease_name: Homozygous familial hypercholesterolemia
HoFH
gene_symbol: LDLR
disease_id: OMIM:143890
disease_name: HYPERCHOLESTEROLEMIA, FAMILIAL, 1
gene_symbol: PCSK9
disease_id: ORPHA:391665
disease_name: Homozygous familial hypercholesterolemia
HoFH
gene_symbol: LDLRAP1
disease_id: ORPHA:391665
disease_name: Homozygous familial hypercholesterolemia
HoFH
gene_symbol: APOB
disease_id: ORPHA:391665
disease_name: Homozygous familial hypercholesterolemia
HoFH
gene_symbol: APOB
disease_id: OMIM:144010
disease_name: HYPERCHOLESTEROLEMIA, FAMILIAL, 2
gene_symbol: ABCG5
disease_id: ORPHA:391665
disease_name: Homozygous familial hypercholesterolemia
HoFH
gene_symbol: ABCG8
disease_id: ORPHA:391665
disease_name: Homozygous familial hypercholesterolemia
HoFH
gene_symbol: SLC7A7
disease_id: ORPHA:470
disease_name: Lysinuric protein intolerance
Hyperdibasic aminoaciduria
LPI
gene_symbol: SMPD1
disease_id: ORPHA:77293
disease_name: Chronic visceral acid sphingomyelinase deficiency
Chronic visceral ASMD
NPD-B
Niemann-Pick disease type B
gene_symbol: SMPD1
disease_id: OMIM:607616
disease_name: NIEMANN-PICK DISEASE, TYPE B
gene_symbol: CELA2A
disease_id: OMIM:618620
disease_name: ABDOMINAL OBESITY-METABOLIC SYNDROME 4
gene_symbol: ALB
disease_id: OMIM:616000
disease_name: ANALBUMINEMIA
gene_symbol: LIPA
disease_id: OMIM:278000
disease_name: LYSOSOMAL ACID LIPASE DEFICIENCY
gene_symbol: APOA2
disease_id: OMIM:143890
disease_name: HYPERCHOLESTEROLEMIA, FAMILIAL, 1
gene_symbol: EPHX2
disease_id: OMIM:143890
disease_name: HYPERCHOLESTEROLEMIA, FAMILIAL, 1
gene_symbol: PPP1R17
disease_id: OMIM:143890
disease_name: HYPERCHOLESTEROLEMIA, FAMILIAL, 1
gene_symbol: GHR
disease_id: OMIM:143890
disease_name: HYPERCHOLESTEROLEMIA, FAMILIAL, 1
gene_symbol: DYRK1B
disease_id: OMIM:615812
disease_name: ABDOMINAL OBESITY-METABOLIC SYNDROME 3
gene_symbol: VMA12
disease_id: OMIM:616829
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp
gene_symbol: VMA22
disease_id: OMIM:616828
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo
gene_symbol: FHL1
disease_id: ORPHA:98863
disease_name: X-linked Emery-Dreifuss muscular dystrophy
gene_symbol: EMD
disease_id: ORPHA:98863
disease_name: X-linked Emery-Dreifuss muscular dystrophy
gene_symbol: ABCA2
disease_id: OMIM:618808
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA
gene_symbol: CYP7A1
disease_id: ORPHA:209902
disease_name: Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
gene_symbol: LRP6
disease_id: OMIM:610947
disease_name: CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT 2
gene_symbol: LCAT
disease_id: OMIM:136120
disease_name: FISH-EYE DISEASE
gene_symbol: LMNA
disease_id: OMIM:151660
disease_name: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2
gene_symbol: LMNA
disease_id: OMIM:616516
disease_name: EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AUTOSOMAL RECESSIVE
gene_symbol: LMNA
disease_id: ORPHA:98855
disease_name: Autosomal recessive Emery-Dreifuss muscular dystrophy
EDMD3
gene_symbol: LMNA
disease_id: ORPHA:98853
disease_name: Autosomal dominant Emery-Dreifuss muscular dystrophy
EDMD2
gene_symbol: CEP19
disease_id: OMIM:615703
disease_name: MORBID OBESITY AND SPERMATOGENIC FAILURE
gene_symbol: SLC25A13
disease_id: ORPHA:247598
disease_name: Neonatal intrahepatic cholestasis due to citrin deficiency
NICCD
Neonatal intrahepatic cholestasis caused by citrin deficiency
gene_symbol: LPL
disease_id: OMIM:144250
disease_name: HYPERLIPIDEMIA, FAMILIAL COMBINED, 3
gene_symbol: TTPA
disease_id: OMIM:277460
disease_name: ATAXIA WITH VITAMIN 3 DEFICIENCY
gene_symbol: APOE
disease_id: ORPHA:412
disease_name: Dysbetalipoproteinemia
Broad-beta disease
Familial dyslipidemia type 3
HLP type 3
Hyperlipidemia type 3
Hyperlipoproteinemia type 3
Remnant hyperlipoproteinemia
gene_symbol: TMEM43
disease_id: ORPHA:98853
disease_name: Autosomal dominant Emery-Dreifuss muscular dystrophy
EDMD2
gene_symbol: SYNE1
disease_id: ORPHA:98853
disease_name: Autosomal dominant Emery-Dreifuss muscular dystrophy
EDMD2
gene_symbol: SYNE2
disease_id: ORPHA:98853
disease_name: Autosomal dominant Emery-Dreifuss muscular dystrophy
EDMD2