View Results as: Gene Map Table   Clinical Synopsis  

Search: '107730 143890 144010 603776 603813 605747 606945 607786 (Search in: MIM number)'
Results: 8 entries.

1:
# 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
ICD+
SNOMEDCT: 397915002
ICD10CM: E78.00
ORPHA: 391665
DO: 13810

2:
* 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
Hypobetalipoproteinemia 615558 AR 3
ICD+
SNOMEDCT: 238040008, 238081000, 442411007, 60193003
ICD10CM: E78.2, E78.6

3:
# 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
ICD+
SNOMEDCT: 238040008, 238081000
ICD10CM: E78.2
ORPHA: 391665

5:
# 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   Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
Gene/Locus Gene/Locus
MIM number
1p32.3 {Low density lipoprotein cholesterol level QTL 1} 603776 AD 3 PCSK9 607786
1p32.3 Hypercholesterolemia, familial, 3 603776 AD 3 PCSK9 607786
Links
Testing
GTR
Protein
UniProt
Clinical Resources
Clinical Trials
Gene Reviews
Genetic Alliance
GTR
Animal Models
NCBI HomoloGene
OMIA

6:
# 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
ICD+
ORPHA: 391665
DO: 0090105

7:
* 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
LDL cholesterol level QTL2 143890 AD, AR 3
ICD+
SNOMEDCT: 397915002, 441665004
ICD10CM: E78.00

8:
* 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
Hypercholesterolemia, familial, 3 603776 AD 3
ICD+
SNOMEDCT: 441471003
Search: 107730 143890 144010 603776 603813 605747 606945 607786 (Search in: MIM number)
Results: 8 entries.

1:
# 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

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

3:
# 144010. HYPERCHOLESTEROLEMIA, FAMILIAL, 2; FHCL2
Cytogenetic location: 2p24.1
Matching terms: 144010

4:
* 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

5:
# 603776. HYPERCHOLESTEROLEMIA, FAMILIAL, 3; FHCL3
LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 1, INCLUDED; LDLCQ1, INCLUDED
Cytogenetic locations: 1p32.3,
Matching terms: 603776

6:
# 603813. HYPERCHOLESTEROLEMIA, FAMILIAL, 4; FHCL4
Cytogenetic location: 1p36.11
Matching terms: 603813

7:
* 606945. LOW DENSITY LIPOPROTEIN RECEPTOR; LDLR
Cytogenetic location: 19p13.2, Genomic coordinates (GRCh38): 19:11,089,463-11,133,820
Matching terms: 606945

8:
* 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