Entry Search - 602390 606464 608374 613313

Search: '602390 606464 608374 613313 (Search in: MIM number)'

Results: 4 entries.

* 608374. HEMOJUVELIN BMP CORECEPTOR; HJV
Cytogenetic location: 1q21.1, Genomic coordinates (GRCh38): 1:146,017,470-146,021,735
Matching terms: 608374
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
1q21.1	Hemochromatosis, type 2A	602390	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 MedlinePlus Genetics GTR	Variation ClinVar gnomAD GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models IMPC MARRVEL MGI Mouse Gene MMRRC NCBI HomoloGene Wormbase Gene Wormbase Gene ZFin	Cellular Pathways KEGG Reactome

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ICD+
SNOMEDCT: 35400008, 399053004, 399170009 ICD10CM: E83.110 ICD9CM: 275.01

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* 606464. HEPCIDIN ANTIMICROBIAL PEPTIDE; HAMP
Cytogenetic location: 19q13.12, Genomic coordinates (GRCh38): 19:35,282,528-35,285,143
Matching terms: 606464
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
19q13.12	Hemochromatosis, type 2B	613313	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 MedlinePlus Genetics GTR	Variation ClinVar gnomAD GWAS Catalog GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models IMPC MARRVEL MGI Mouse Gene MMRRC NCBI HomoloGene ZFin	Cellular Pathways KEGG Reactome

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# 602390. HEMOCHROMATOSIS, TYPE 2A; HFE2A
HEMOCHROMATOSIS, TYPE 2, INCLUDED; HFE2, INCLUDED
Cytogenetic location: 1q21.1
Matching terms: 602390
► 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
1q21.1	Hemochromatosis, type 2A	602390	AR	3	HJV	608374

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Hemochromatosis - PS235200 - 8 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1q21.1	Hemochromatosis, type 2A	AR	3	602390	HJV	608374
2q32.2	Hemochromatosis, type 4	AD	3	606069	SLC40A1	604653
6p22.2	Hemochromatosis, type 1	AR	3	235200	HFE	613609
7q22.1	Hemochromatosis, type 3	AR	3	604250	TFR2	604720
11q12.3	?Hemochromatosis, type 5	AD	3	615517	FTH1	134770
19q13.12	Hemochromatosis, type 2B	AR	3	613313	HAMP	606464
20p12.3	{HFE hemochromatosis, modifier of}	AR	3	235200	BMP2	112261
Not Mapped	African iron overload	AD		601195	HFEA	601195

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Links
Testing GTR EuroGentest	Protein UniProt	Clinical Resources Clinical Trials EuroGentest Gene Reviews Genetic Alliance GTR GARD OrphaNet	Animal Models MGI Mouse Phenotype NCBI HomoloGene Wormbase Disease Ontology

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ICD+
SNOMEDCT: 50855007 ORPHA: 79230 DO: 0111027

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# 613313. HEMOCHROMATOSIS, TYPE 2B; HFE2B
Cytogenetic location: 19q13.12
Matching terms: 613313
► 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
19q13.12	Hemochromatosis, type 2B	613313	AR	3	HAMP	606464

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Hemochromatosis - PS235200 - 8 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1q21.1	Hemochromatosis, type 2A	AR	3	602390	HJV	608374
2q32.2	Hemochromatosis, type 4	AD	3	606069	SLC40A1	604653
6p22.2	Hemochromatosis, type 1	AR	3	235200	HFE	613609
7q22.1	Hemochromatosis, type 3	AR	3	604250	TFR2	604720
11q12.3	?Hemochromatosis, type 5	AD	3	615517	FTH1	134770
19q13.12	Hemochromatosis, type 2B	AR	3	613313	HAMP	606464
20p12.3	{HFE hemochromatosis, modifier of}	AR	3	235200	BMP2	112261
Not Mapped	African iron overload	AD		601195	HFEA	601195

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Links
Testing GTR EuroGentest	Protein UniProt	Clinical Resources Clinical Trials EuroGentest Gene Reviews Genetic Alliance MedlinePlus Genetics GTR GARD OrphaNet	Animal Models MGI Mouse Phenotype NCBI HomoloGene

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ICD+
ORPHA: 79230 DO: 0111032

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Search: 602390 606464 608374 613313 (Search in: MIM number)

Results: 4 entries.

* 608374. HEMOJUVELIN BMP CORECEPTOR; HJV
Cytogenetic location: 1q21.1, Genomic coordinates (GRCh38): 1:146,017,470-146,021,735
Matching terms: 608374

* 606464. HEPCIDIN ANTIMICROBIAL PEPTIDE; HAMP
Cytogenetic location: 19q13.12, Genomic coordinates (GRCh38): 19:35,282,528-35,285,143
Matching terms: 606464

# 602390. HEMOCHROMATOSIS, TYPE 2A; HFE2A
HEMOCHROMATOSIS, TYPE 2, INCLUDED; HFE2, INCLUDED
Cytogenetic location: 1q21.1
Matching terms: 602390

# 613313. HEMOCHROMATOSIS, TYPE 2B; HFE2B
Cytogenetic location: 19q13.12
Matching terms: 613313

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Printed: April 23, 2024