Entry Search - 170993 202370 214100 266510 600279 600414 601498 601758 601789 601791 602136 602859 603164 603360 603867 608666

Search: '170993 202370 214100 266510 600279 600414 601498 601758 601789 601791 602136 602859 603164 603360 603867 608666 (Search in: MIM number)'

Results: 16 entries.

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* 608666. PEROXISOME BIOGENESIS FACTOR 26; PEX26
Cytogenetic location: 22q11.21, Genomic coordinates (GRCh38): 22:18,077,990-18,105,396
Matching terms: 608666
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
22q11.21	Peroxisome biogenesis disorder 7A (Zellweger)	614872	AR	3
22q11.21	Peroxisome biogenesis disorder 7B	614873	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 GTR	Variation ClinVar gnomAD 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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* 600279. PEROXISOME BIOGENESIS FACTOR 19; PEX19
Cytogenetic location: 1q23.2, Genomic coordinates (GRCh38): 1:160,276,807-160,285,151
Matching terms: 600279
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
1q23.2	Peroxisome biogenesis disorder 12A (Zellweger)	614886	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 GTR	Variation ClinVar gnomAD GWAS Central HGMD Locus Specific DBs 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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* 600414. PEROXISOME BIOGENESIS FACTOR 5; PEX5
Cytogenetic location: 12p13.31, Genomic coordinates (GRCh38): 12:7,188,653-7,218,574
Matching terms: 600414
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
12p13.31	Peroxisome biogenesis disorder 2A (Zellweger)	214110	AR	3
	Peroxisome biogenesis disorder 2B	202370	AR	3
	Rhizomelic chondrodysplasia punctata, type 5	616716	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 GTR	Variation ClinVar gnomAD GWAS Catalog GWAS Central HGMD Locus Specific DBs 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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* 170993. PEROXISOME BIOGENESIS FACTOR 2; PEX2
Cytogenetic location: 8q21.13, Genomic coordinates (GRCh38): 8:76,980,258-77,001,044
Matching terms: 170993
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
8q21.13	Peroxisome biogenesis disorder 5A (Zellweger)	614866	AR	3
8q21.13	Peroxisome biogenesis disorder 5B	614867	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 GTR	Variation ClinVar gnomAD GWAS Catalog GWAS Central HGMD Locus Specific DBs 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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* 601498. PEROXISOME BIOGENESIS FACTOR 6; PEX6
Cytogenetic location: 6p21.1, Genomic coordinates (GRCh38): 6:42,963,865-42,979,181
Matching terms: 601498
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
6p21.1	Heimler syndrome 2	616617	AR	3
	Peroxisome biogenesis disorder 4A (Zellweger)	614862	AR	3
	Peroxisome biogenesis disorder 4B	614863	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 Validity GTR	Variation ClinVar DECIPHER gnomAD GWAS Catalog GWAS Central HGMD Locus Specific DBs NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB Wormbase Gene Wormbase Gene ZFin	Cell Lines Coriell	Cellular Pathways KEGG Reactome

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* 601758. PEROXISOME BIOGENESIS FACTOR 12; PEX12
Cytogenetic location: 17q12, Genomic coordinates (GRCh38): 17:35,574,795-35,578,571
Matching terms: 601758
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
17q12	Peroxisome biogenesis disorder 3A (Zellweger)	614859	AR	3
17q12	Peroxisome biogenesis disorder 3B	266510	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 GTR	Variation ClinVar gnomAD GWAS Catalog GWAS Central HGMD Locus Specific DBs 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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* 601789. PEROXISOME BIOGENESIS FACTOR 13; PEX13
Cytogenetic location: 2p15, Genomic coordinates (GRCh38): 2:61,017,720-61,051,990
Matching terms: 601789
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
2p15	Peroxisome biogenesis disorder 11A (Zellweger)	614883	AR	3
2p15	Peroxisome biogenesis disorder 11B	614885	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 GTR	Variation ClinVar gnomAD GWAS Catalog GWAS Central HGMD Locus Specific DBs 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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* 601791. PEROXISOME BIOGENESIS FACTOR 14; PEX14
Cytogenetic location: 1p36.22, Genomic coordinates (GRCh38): 1:10,474,950-10,630,758
Matching terms: 601791
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
1p36.22	Peroxisome biogenesis disorder 13A (Zellweger)	614887	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 GTR	Variation ClinVar gnomAD GWAS Catalog GWAS Central HGMD Locus Specific DBs 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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# 202370. PEROXISOME BIOGENESIS DISORDER 2B; PBD2B
Cytogenetic location: 12p13.31
Matching terms: 202370
► 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
12p13.31	Peroxisome biogenesis disorder 2B	202370	AR	3	PEX5	600414

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Peroxisome biogenesis disorder - PS214100 - 27 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1p36.32	Peroxisome biogenesis disorder 6B	AR	3	614871	PEX10	602859
1p36.32	Peroxisome biogenesis disorder 6A (Zellweger)	AR	3	614870	PEX10	602859
1p36.22	Peroxisome biogenesis disorder 13A (Zellweger)	AR	3	614887	PEX14	601791
1q21.1	Peroxisome biogenesis disorder 14B	AR	3	614920	PEX11B	603867
1q23.2	Peroxisome biogenesis disorder 12A (Zellweger)	AR	3	614886	PEX19	600279
2p15	Peroxisome biogenesis disorder 11B	AR	3	614885	PEX13	601789
2p15	Peroxisome biogenesis disorder 11A (Zellweger)	AR	3	614883	PEX13	601789
6p21.1	Heimler syndrome 2	AR	3	616617	PEX6	601498
6p21.1	Peroxisome biogenesis disorder 4B	AD, AR	3	614863	PEX6	601498
6p21.1	Peroxisome biogenesis disorder 4A (Zellweger)	AR	3	614862	PEX6	601498
6q23.3	Peroxisome biogenesis disorder 9B	AR	3	614879	PEX7	601757
6q23.3	Rhizomelic chondrodysplasia punctata, type 1	AR	3	215100	PEX7	601757
6q24.2	Peroxisome biogenesis disorder 10A (Zellweger)	AR	3	614882	PEX3	603164
6q24.2	?Peroxisome biogenesis disorder 10B	AR	3	617370	PEX3	603164
7q21.2	Peroxisome biogenesis disorder 1B (NALD/IRD)	AR	3	601539	PEX1	602136
7q21.2	Peroxisome biogenesis disorder 1A (Zellweger)	AR	3	214100	PEX1	602136
7q21.2	Heimler syndrome 1	AR	3	234580	PEX1	602136
8q21.13	Peroxisome biogenesis disorder 5B	AR	3	614867	PEX2	170993
8q21.13	Peroxisome biogenesis disorder 5A (Zellweger)	AR	3	614866	PEX2	170993
11p11.2	Peroxisome biogenesis disorder 8B	AR	3	614877	PEX16	603360
11p11.2	Peroxisome biogenesis disorder 8A (Zellweger)	AR	3	614876	PEX16	603360
12p13.31	Peroxisome biogenesis disorder 2B	AR	3	202370	PEX5	600414
12p13.31	Peroxisome biogenesis disorder 2A (Zellweger)	AR	3	214110	PEX5	600414
17q12	Peroxisome biogenesis disorder 3A (Zellweger)	AR	3	614859	PEX12	601758
17q12	Peroxisome biogenesis disorder 3B	AR	3	266510	PEX12	601758
22q11.21	Peroxisome biogenesis disorder 7A (Zellweger)	AR	3	614872	PEX26	608666
22q11.21	Peroxisome biogenesis disorder 7B	AR	3	614873	PEX26	608666

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Links
Testing GTR EuroGentest Neonatal adrenoleukodystro… Infantile Refsum disease Peroxisome biogenesis diso…	Clinical Resources Clinical Trials EuroGentest Neonatal adrenoleukodystro… Infantile Refsum disease Peroxisome biogenesis diso… Gene Reviews GTR OrphaNet Neonatal adrenoleukodystro… Infantile Refsum disease Peroxisome biogenesis diso… POSSUM	Animal Models Alliance Genome MGI Mouse Phenotype Wormbase Disease Ontology	Cell Lines Coriell

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ICD+
ORPHA: 44, 772, 79189 DO: 0080622

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10:

# 214100. PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER); PBD1A
PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 1, INCLUDED; CG1, INCLUDED
Cytogenetic location: 7q21.2
Matching terms: 214100
► 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
7q21.2	Peroxisome biogenesis disorder 1A (Zellweger)	214100	AR	3	PEX1	602136

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Peroxisome biogenesis disorder - PS214100 - 27 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1p36.32	Peroxisome biogenesis disorder 6B	AR	3	614871	PEX10	602859
1p36.32	Peroxisome biogenesis disorder 6A (Zellweger)	AR	3	614870	PEX10	602859
1p36.22	Peroxisome biogenesis disorder 13A (Zellweger)	AR	3	614887	PEX14	601791
1q21.1	Peroxisome biogenesis disorder 14B	AR	3	614920	PEX11B	603867
1q23.2	Peroxisome biogenesis disorder 12A (Zellweger)	AR	3	614886	PEX19	600279
2p15	Peroxisome biogenesis disorder 11B	AR	3	614885	PEX13	601789
2p15	Peroxisome biogenesis disorder 11A (Zellweger)	AR	3	614883	PEX13	601789
6p21.1	Heimler syndrome 2	AR	3	616617	PEX6	601498
6p21.1	Peroxisome biogenesis disorder 4B	AD, AR	3	614863	PEX6	601498
6p21.1	Peroxisome biogenesis disorder 4A (Zellweger)	AR	3	614862	PEX6	601498
6q23.3	Peroxisome biogenesis disorder 9B	AR	3	614879	PEX7	601757
6q23.3	Rhizomelic chondrodysplasia punctata, type 1	AR	3	215100	PEX7	601757
6q24.2	Peroxisome biogenesis disorder 10A (Zellweger)	AR	3	614882	PEX3	603164
6q24.2	?Peroxisome biogenesis disorder 10B	AR	3	617370	PEX3	603164
7q21.2	Peroxisome biogenesis disorder 1B (NALD/IRD)	AR	3	601539	PEX1	602136
7q21.2	Peroxisome biogenesis disorder 1A (Zellweger)	AR	3	214100	PEX1	602136
7q21.2	Heimler syndrome 1	AR	3	234580	PEX1	602136
8q21.13	Peroxisome biogenesis disorder 5B	AR	3	614867	PEX2	170993
8q21.13	Peroxisome biogenesis disorder 5A (Zellweger)	AR	3	614866	PEX2	170993
11p11.2	Peroxisome biogenesis disorder 8B	AR	3	614877	PEX16	603360
11p11.2	Peroxisome biogenesis disorder 8A (Zellweger)	AR	3	614876	PEX16	603360
12p13.31	Peroxisome biogenesis disorder 2B	AR	3	202370	PEX5	600414
12p13.31	Peroxisome biogenesis disorder 2A (Zellweger)	AR	3	214110	PEX5	600414
17q12	Peroxisome biogenesis disorder 3A (Zellweger)	AR	3	614859	PEX12	601758
17q12	Peroxisome biogenesis disorder 3B	AR	3	266510	PEX12	601758
22q11.21	Peroxisome biogenesis disorder 7A (Zellweger)	AR	3	614872	PEX26	608666
22q11.21	Peroxisome biogenesis disorder 7B	AR	3	614873	PEX26	608666

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Links
Testing GTR EuroGentest Peroxisome biogenesis diso… Zellweger syndrome	Clinical Resources Clinical Trials EuroGentest Peroxisome biogenesis diso… Zellweger syndrome Gene Reviews Genetic Alliance GTR OrphaNet Peroxisome biogenesis diso… Zellweger syndrome POSSUM	Animal Models Alliance Genome MGI Mouse Phenotype Wormbase Disease Ontology	Cell Lines Coriell

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ICD+
SNOMEDCT: 88469006 ICD10CM: E71.510 ORPHA: 79189, 912 DO: 0080476

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Search: 170993 202370 214100 266510 600279 600414 601498 601758 601789 601791 602136 602859 603164 603360 603867 608666 (Search in: MIM number)

Results: 16 entries.

* 608666. PEROXISOME BIOGENESIS FACTOR 26; PEX26
Cytogenetic location: 22q11.21, Genomic coordinates (GRCh38): 22:18,077,990-18,105,396
Matching terms: 608666

* 600279. PEROXISOME BIOGENESIS FACTOR 19; PEX19
Cytogenetic location: 1q23.2, Genomic coordinates (GRCh38): 1:160,276,807-160,285,151
Matching terms: 600279

* 600414. PEROXISOME BIOGENESIS FACTOR 5; PEX5
Cytogenetic location: 12p13.31, Genomic coordinates (GRCh38): 12:7,188,653-7,218,574
Matching terms: 600414

* 170993. PEROXISOME BIOGENESIS FACTOR 2; PEX2
Cytogenetic location: 8q21.13, Genomic coordinates (GRCh38): 8:76,980,258-77,001,044
Matching terms: 170993

* 601498. PEROXISOME BIOGENESIS FACTOR 6; PEX6
Cytogenetic location: 6p21.1, Genomic coordinates (GRCh38): 6:42,963,865-42,979,181
Matching terms: 601498

* 601758. PEROXISOME BIOGENESIS FACTOR 12; PEX12
Cytogenetic location: 17q12, Genomic coordinates (GRCh38): 17:35,574,795-35,578,571
Matching terms: 601758

* 601789. PEROXISOME BIOGENESIS FACTOR 13; PEX13
Cytogenetic location: 2p15, Genomic coordinates (GRCh38): 2:61,017,720-61,051,990
Matching terms: 601789

* 601791. PEROXISOME BIOGENESIS FACTOR 14; PEX14
Cytogenetic location: 1p36.22, Genomic coordinates (GRCh38): 1:10,474,950-10,630,758
Matching terms: 601791

# 202370. PEROXISOME BIOGENESIS DISORDER 2B; PBD2B
Cytogenetic location: 12p13.31
Matching terms: 202370

10:

# 214100. PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER); PBD1A
PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 1, INCLUDED; CG1, INCLUDED
Cytogenetic location: 7q21.2
Matching terms: 214100

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