Entry Search - 107730 143890 144010 603776 603813 605747 606945 607786

Search: '107730 143890 144010 603776 603813 605747 606945 607786 (Search in: MIM number)'

Results: 8 entries.

# 143890. HYPERCHOLESTEROLEMIA, FAMILIAL, 1; FHCL1
LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 2, INCLUDED; LDLCQ2, INCLUDED
Cytogenetic locations: 1q23.3, 5p13.1-p12, 7p14.3, 8p21.2-p21.1, 19p13.2,
Matching terms: 143890
► Phenotype-Gene Relationships ► Phenotypic Series ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
1q23.3	{Hypercholesterolemia, familial, modifier of}	143890	AD, AR	3	APOA2	107670
5p13.1-p12	{Hypercholesterolemia, familial, modifier of}	143890	AD, AR	3	GHR	600946
7p14.3	{Hypercholesterolemia, susceptibility to}	143890	AD, AR	3	GSBS	604088
8p21.2-p21.1	{Hypercholesterolemia, familial, due to LDLR defect, modifier of}	143890	AD, AR	3	EPHX2	132811
19p13.2	Hypercholesterolemia, familial, 1	143890	AD, AR	3	LDLR	606945
19p13.2	LDL cholesterol level QTL2	143890	AD, AR	3	LDLR	606945

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Hypercholesterolemia, familial - PS143890 - 10 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1p36.11	Hypercholesterolemia, familial, 4	AR	3	603813	LDLRAP1	605747
1p32.3	Hypercholesterolemia, familial, 3	AD	3	603776	PCSK9	607786
1p32.3	{Low density lipoprotein cholesterol level QTL 1}	AD	3	603776	PCSK9	607786
1q23.3	{Hypercholesterolemia, familial, modifier of}	AD, AR	3	143890	APOA2	107670
2p24.1	Hypercholesterolemia, familial, 2	AD	3	144010	APOB	107730
5p13.1-p12	{Hypercholesterolemia, familial, modifier of}	AD, AR	3	143890	GHR	600946
7p14.3	{Hypercholesterolemia, susceptibility to}	AD, AR	3	143890	GSBS	604088
8p21.2-p21.1	{Hypercholesterolemia, familial, due to LDLR defect, modifier of}	AD, AR	3	143890	EPHX2	132811
19p13.2	Hypercholesterolemia, familial, 1	AD, AR	3	143890	LDLR	606945
19p13.2	LDL cholesterol level QTL2	AD, AR	3	143890	LDLR	606945

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Links
Testing GTR EuroGentest	Clinical Resources Clinical Trials EuroGentest Gene Reviews Genetic Alliance GTR OrphaNet	Animal Models Alliance Genome MGI Mouse Phenotype OMIA Wormbase Disease Ontology	Cell Lines Coriell

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ICD+
SNOMEDCT: 397915002 ICD10CM: E78.00 ORPHA: 391665 DO: 13810

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* 107730. APOLIPOPROTEIN B; APOB
APOB100, INCLUDED
Cytogenetic location: 2p24.1, Genomic coordinates (GRCh38): 2:21,001,429-21,044,073
Matching terms: 107730
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
2p24.1	Hypercholesterolemia, familial, 2	144010	AD	3
2p24.1	Hypobetalipoproteinemia	615558	AR	3

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Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl (MANE Select) NCBI RefSeq NCBI RefSeq (MANE Select) UCSC Genome Browser	Protein HPRD Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources ClinGen Dosage ClinGen Validity MedlinePlus Genetics GTR	Variation ClinVar gnomAD GWAS Catalog GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OMIA OrthoDB ZFin	Cell Lines Coriell	Cellular Pathways KEGG Reactome

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ICD+
SNOMEDCT: 238040008, 238081000, 442411007, 60193003 ICD10CM: E78.2, E78.6

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* 605747. LOW DENSITY LIPOPROTEIN RECEPTOR ADAPTOR PROTEIN 1; LDLRAP1
Cytogenetic location: 1p36.11, Genomic coordinates (GRCh38): 1:25,543,606-25,590,400
Matching terms: 605747
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
1p36.11	Hypercholesterolemia, familial, 4	603813	AR	3

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Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl (MANE Select) NCBI RefSeq NCBI RefSeq (MANE Select) UCSC Genome Browser	Protein HPRD Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources ClinGen Validity MedlinePlus Genetics GTR	Variation ClinVar gnomAD GWAS Catalog GWAS Central HGMD Locus Specific DBs NHLBI EVS PharmGKB	Animal Models Alliance Genome IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB ZFin	Cell Lines Coriell	Cellular Pathways KEGG Reactome

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# 144010. HYPERCHOLESTEROLEMIA, FAMILIAL, 2; FHCL2
Cytogenetic location: 2p24.1
Matching terms: 144010
► Phenotype-Gene Relationships ► Phenotypic Series ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
2p24.1	Hypercholesterolemia, familial, 2	144010	AD	3	APOB	107730

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Hypercholesterolemia, familial - PS143890 - 10 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1p36.11	Hypercholesterolemia, familial, 4	AR	3	603813	LDLRAP1	605747
1p32.3	Hypercholesterolemia, familial, 3	AD	3	603776	PCSK9	607786
1p32.3	{Low density lipoprotein cholesterol level QTL 1}	AD	3	603776	PCSK9	607786
1q23.3	{Hypercholesterolemia, familial, modifier of}	AD, AR	3	143890	APOA2	107670
2p24.1	Hypercholesterolemia, familial, 2	AD	3	144010	APOB	107730
5p13.1-p12	{Hypercholesterolemia, familial, modifier of}	AD, AR	3	143890	GHR	600946
7p14.3	{Hypercholesterolemia, susceptibility to}	AD, AR	3	143890	GSBS	604088
8p21.2-p21.1	{Hypercholesterolemia, familial, due to LDLR defect, modifier of}	AD, AR	3	143890	EPHX2	132811
19p13.2	Hypercholesterolemia, familial, 1	AD, AR	3	143890	LDLR	606945
19p13.2	LDL cholesterol level QTL2	AD, AR	3	143890	LDLR	606945

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Links
Testing GTR EuroGentest	Clinical Resources Clinical Trials EuroGentest Gene Reviews Genetic Alliance GTR OrphaNet	Cell Lines Coriell

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ICD+
SNOMEDCT: 238040008, 238081000 ICD10CM: E78.2 ORPHA: 391665

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# 603776. HYPERCHOLESTEROLEMIA, FAMILIAL, 3; FHCL3
LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 1, INCLUDED; LDLCQ1, INCLUDED
Cytogenetic locations: 1p32.3,
Matching terms: 603776
► Phenotype-Gene Relationships ► Phenotypic Series ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
1p32.3	Hypercholesterolemia, familial, 3	603776	AD	3	PCSK9	607786
1p32.3	{Low density lipoprotein cholesterol level QTL 1}	603776	AD	3	PCSK9	607786

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Hypercholesterolemia, familial - PS143890 - 10 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1p36.11	Hypercholesterolemia, familial, 4	AR	3	603813	LDLRAP1	605747
1p32.3	Hypercholesterolemia, familial, 3	AD	3	603776	PCSK9	607786
1p32.3	{Low density lipoprotein cholesterol level QTL 1}	AD	3	603776	PCSK9	607786
1q23.3	{Hypercholesterolemia, familial, modifier of}	AD, AR	3	143890	APOA2	107670
2p24.1	Hypercholesterolemia, familial, 2	AD	3	144010	APOB	107730
5p13.1-p12	{Hypercholesterolemia, familial, modifier of}	AD, AR	3	143890	GHR	600946
7p14.3	{Hypercholesterolemia, susceptibility to}	AD, AR	3	143890	GSBS	604088
8p21.2-p21.1	{Hypercholesterolemia, familial, due to LDLR defect, modifier of}	AD, AR	3	143890	EPHX2	132811
19p13.2	Hypercholesterolemia, familial, 1	AD, AR	3	143890	LDLR	606945
19p13.2	LDL cholesterol level QTL2	AD, AR	3	143890	LDLR	606945

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Links
Testing GTR EuroGentest	Clinical Resources Clinical Trials EuroGentest Gene Reviews Genetic Alliance GTR OrphaNet	Animal Models OMIA

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ICD+
ORPHA: 391665

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# 603813. HYPERCHOLESTEROLEMIA, FAMILIAL, 4; FHCL4
Cytogenetic location: 1p36.11
Matching terms: 603813
► Phenotype-Gene Relationships ► Phenotypic Series ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
1p36.11	Hypercholesterolemia, familial, 4	603813	AR	3	LDLRAP1	605747

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Hypercholesterolemia, familial - PS143890 - 10 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1p36.11	Hypercholesterolemia, familial, 4	AR	3	603813	LDLRAP1	605747
1p32.3	Hypercholesterolemia, familial, 3	AD	3	603776	PCSK9	607786
1p32.3	{Low density lipoprotein cholesterol level QTL 1}	AD	3	603776	PCSK9	607786
1q23.3	{Hypercholesterolemia, familial, modifier of}	AD, AR	3	143890	APOA2	107670
2p24.1	Hypercholesterolemia, familial, 2	AD	3	144010	APOB	107730
5p13.1-p12	{Hypercholesterolemia, familial, modifier of}	AD, AR	3	143890	GHR	600946
7p14.3	{Hypercholesterolemia, susceptibility to}	AD, AR	3	143890	GSBS	604088
8p21.2-p21.1	{Hypercholesterolemia, familial, due to LDLR defect, modifier of}	AD, AR	3	143890	EPHX2	132811
19p13.2	Hypercholesterolemia, familial, 1	AD, AR	3	143890	LDLR	606945
19p13.2	LDL cholesterol level QTL2	AD, AR	3	143890	LDLR	606945

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Links
Testing GTR EuroGentest	Clinical Resources Clinical Trials EuroGentest Gene Reviews Genetic Alliance MedlinePlus Genetics GTR OrphaNet	Animal Models Alliance Genome MGI Mouse Phenotype	Cell Lines Coriell

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ICD+
ORPHA: 391665 DO: 0090105

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* 606945. LOW DENSITY LIPOPROTEIN RECEPTOR; LDLR
Cytogenetic location: 19p13.2, Genomic coordinates (GRCh38): 19:11,089,463-11,133,820
Matching terms: 606945
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
19p13.2	Hypercholesterolemia, familial, 1	143890	AD, AR	3
19p13.2	LDL cholesterol level QTL2	143890	AD, AR	3

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Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl (MANE Select) NCBI RefSeq NCBI RefSeq (MANE Select) UCSC Genome Browser	Protein HPRD Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources ClinGen Dosage ClinGen Validity MedlinePlus Genetics GTR	Variation ClinVar gnomAD GWAS Catalog GWAS Central HGMD Locus Specific DBs Hypercholesterolemia, Fami… UMD Locus Specific Databas… NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OMIA OrthoDB Wormbase Gene Wormbase Gene ZFin	Cellular Pathways KEGG Reactome

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ICD+
SNOMEDCT: 397915002, 441665004 ICD10CM: E78.00

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* 607786. PROPROTEIN CONVERTASE, SUBTILISIN/KEXIN-TYPE, 9; PCSK9
Cytogenetic location: 1p32.3, Genomic coordinates (GRCh38): 1:55,039,548-55,064,852
Matching terms: 607786
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
1p32.3	{Low density lipoprotein cholesterol level QTL 1}	603776	AD	3
1p32.3	Hypercholesterolemia, familial, 3	603776	AD	3

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Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl (MANE Select) NCBI RefSeq NCBI RefSeq (MANE Select) UCSC Genome Browser	Protein HPRD Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources ClinGen Dosage ClinGen Validity MedlinePlus Genetics GTR	Variation ClinVar gnomAD GWAS Catalog GWAS Central HGMD Locus Specific DBs NHLBI EVS PharmGKB	Animal Models Alliance Genome IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OMIA OrthoDB ZFin	Cellular Pathways KEGG Reactome

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ICD+
SNOMEDCT: 441471003

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Search: 107730 143890 144010 603776 603813 605747 606945 607786 (Search in: MIM number)

Results: 8 entries.

* 107730. APOLIPOPROTEIN B; APOB
APOB100, INCLUDED
Cytogenetic location: 2p24.1, Genomic coordinates (GRCh38): 2:21,001,429-21,044,073
Matching terms: 107730

* 605747. LOW DENSITY LIPOPROTEIN RECEPTOR ADAPTOR PROTEIN 1; LDLRAP1
Cytogenetic location: 1p36.11, Genomic coordinates (GRCh38): 1:25,543,606-25,590,400
Matching terms: 605747

# 144010. HYPERCHOLESTEROLEMIA, FAMILIAL, 2; FHCL2
Cytogenetic location: 2p24.1
Matching terms: 144010

# 603813. HYPERCHOLESTEROLEMIA, FAMILIAL, 4; FHCL4
Cytogenetic location: 1p36.11
Matching terms: 603813

* 606945. LOW DENSITY LIPOPROTEIN RECEPTOR; LDLR
Cytogenetic location: 19p13.2, Genomic coordinates (GRCh38): 19:11,089,463-11,133,820
Matching terms: 606945

* 607786. PROPROTEIN CONVERTASE, SUBTILISIN/KEXIN-TYPE, 9; PCSK9
Cytogenetic location: 1p32.3, Genomic coordinates (GRCh38): 1:55,039,548-55,064,852
Matching terms: 607786

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