Entry Search - 164017 167320 600124 601023 615422 615424

Search: '164017 167320 600124 601023 615422 615424 (Search in: MIM number)'

Results: 6 entries.

# 167320. INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 1; IBMPFD1
Cytogenetic location: 9p13.3
Matching terms: 167320
► 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
9p13.3	Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1	167320	AD	3	VCP	601023

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Inclusion body myopathy/Paget disease/frontotemporal dementia - PS167320 - 3 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
7p15.2	?Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	AD	3	615422	HNRNPA2B1	600124
9p13.3	Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1	AD	3	167320	VCP	601023
12q13.13	?Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3	AD	3	615424	HNRNPA1	164017

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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 Wormbase Disease Ontology	Cell Lines Coriell

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ICD+
SNOMEDCT: 703544004 ORPHA: 52430 DO: 0111385

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# 615422. INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 2; IBMPFD2
Cytogenetic location: 7p15.2
Matching terms: 615422
► 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
7p15.2	?Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	615422	AD	3	HNRNPA2B1	600124

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Inclusion body myopathy/Paget disease/frontotemporal dementia - PS167320 - 3 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
7p15.2	?Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	AD	3	615422	HNRNPA2B1	600124
9p13.3	Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1	AD	3	167320	VCP	601023
12q13.13	?Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3	AD	3	615424	HNRNPA1	164017

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

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ICD+
ORPHA: 52430 DO: 0111384

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# 615424. INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 3; IBMPFD3
Cytogenetic location: 12q13.13
Matching terms: 615424
► 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
12q13.13	?Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3	615424	AD	3	HNRNPA1	164017

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Inclusion body myopathy/Paget disease/frontotemporal dementia - PS167320 - 3 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
7p15.2	?Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	AD	3	615422	HNRNPA2B1	600124
9p13.3	Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1	AD	3	167320	VCP	601023
12q13.13	?Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3	AD	3	615424	HNRNPA1	164017

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Links
Testing GTR EuroGentest	Clinical Resources Clinical Trials EuroGentest Gene Reviews MedlinePlus Genetics GTR OrphaNet	Animal Models Alliance Genome MGI Mouse Phenotype Wormbase Disease Ontology

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ICD+
ORPHA: 52430 DO: 0111386

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* 164017. HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN A1; HNRNPA1
Cytogenetic location: 12q13.13, Genomic coordinates (GRCh38): 12:54,280,726-54,287,087
Matching terms: 164017
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
12q13.13	?Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3	615424	AD	3
	?Myopathy, distal, 3	610099	AD	3
	Amyotrophic lateral sclerosis 20	615426	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 GTR	Variation ClinVar gnomAD GWAS Catalog GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB Wormbase Gene Wormbase Gene ZFin	Cellular Pathways KEGG Reactome

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ICD+
SNOMEDCT: 763718009

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* 600124. HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN A2/B1; HNRNPA2B1
HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN A2, INCLUDED; HNRPA2, INCLUDED
Cytogenetic location: 7p15.2, Genomic coordinates (GRCh38): 7:26,189,927-26,200,746
Matching terms: 600124
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
7p15.2	?Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	615422	AD	3
7p15.2	Oculopharyngeal muscular dystrophy 2	620460	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 Validity GTR	Variation ClinVar gnomAD GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB Wormbase Gene Wormbase Gene	Cellular Pathways KEGG Reactome

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* 601023. VALOSIN-CONTAINING PROTEIN; VCP
Cytogenetic location: 9p13.3, Genomic coordinates (GRCh38): 9:35,056,064-35,072,625
Matching terms: 601023
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
9p13.3	Charcot-Marie-Tooth disease, type 2Y	616687	AD	3
	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6	613954	AD	3
	Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1	167320	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 Validity MedlinePlus Genetics GTR	Variation ClinVar DECIPHER gnomAD GWAS Catalog GWAS Central HGMD Locus Specific DBs Leiden Muscular Dystrophy … Alzheimer Disease & Fr… NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB Wormbase Gene WBGene00007352 WBGene00008053 ZFin	Cell Lines Coriell	Cellular Pathways KEGG Reactome

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ICD+
SNOMEDCT: 1187565005

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Search: 164017 167320 600124 601023 615422 615424 (Search in: MIM number)

Results: 6 entries.

# 167320. INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 1; IBMPFD1
Cytogenetic location: 9p13.3
Matching terms: 167320

# 615422. INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 2; IBMPFD2
Cytogenetic location: 7p15.2
Matching terms: 615422

# 615424. INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 3; IBMPFD3
Cytogenetic location: 12q13.13
Matching terms: 615424

* 164017. HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN A1; HNRNPA1
Cytogenetic location: 12q13.13, Genomic coordinates (GRCh38): 12:54,280,726-54,287,087
Matching terms: 164017

* 601023. VALOSIN-CONTAINING PROTEIN; VCP
Cytogenetic location: 9p13.3, Genomic coordinates (GRCh38): 9:35,056,064-35,072,625
Matching terms: 601023

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Printed: March 5, 2025