Entry Search - 252150 252160 603707 603708 603930 609277 615501

Search: '252150 252160 603707 603708 603930 609277 615501 (Search in: MIM number)'

Results: 7 entries.

* 609277. MOLYBDENUM COFACTOR SYNTHESIS 3; MOCS3
Cytogenetic location: 20q13.13, Genomic coordinates (GRCh38): 20:50,958,818-50,963,929
Matching terms: 609277
► Links

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 NCBI Gene UCSC	Clinical Resources GTR	Variation ClinVar gnomAD GWAS Central 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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# 615501. MOLYBDENUM COFACTOR DEFICIENCY, TYPE C; MOCODC
Cytogenetic location: 14q23.3-q24.1
Matching terms: 615501
► 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
14q23.3-q24.1	Molybdenum cofactor deficiency C	615501	AR	3	GPHN	603930

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Molybdenum cofactor deficiency - PS252150 - 3 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
5q11.2	Molybdenum cofactor deficiency B	AR	3	252160	MOCS2	603708
6p21.2	Molybdenum cofactor deficiency A	AR	3	252150	MOCS1	603707
14q23.3-q24.1	Molybdenum cofactor deficiency C	AR	3	615501	GPHN	603930

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Links
Testing GTR EuroGentest Sulfite oxidase deficiency… Encephalopathy due to sulf… Sulfite oxidase deficiency…	Clinical Resources Clinical Trials EuroGentest Sulfite oxidase deficiency… Encephalopathy due to sulf… Sulfite oxidase deficiency… Gene Reviews MedlinePlus Genetics GTR OrphaNet Sulfite oxidase deficiency… Encephalopathy due to sulf… Sulfite oxidase deficiency…	Animal Models Alliance Genome MGI Mouse Phenotype Wormbase Disease Ontology

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ICD+
SNOMEDCT: 1003387003 ORPHA: 308400, 833, 99732 DO: 0111166

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* 603707. MOLYBDENUM COFACTOR SYNTHESIS GENE 1; MOCS1
MOCS1A, INCLUDED
Cytogenetic location: 6p21.2, Genomic coordinates (GRCh38): 6:39,904,170-39,934,462
Matching terms: 603707
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
6p21.2	Molybdenum cofactor deficiency A	252150	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 NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OMIA OrthoDB Wormbase Gene WBGene00009885 WBGene00009908 ZFin	Cellular Pathways KEGG Reactome

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ICD+
SNOMEDCT: 1003367004

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* 603708. MOLYBDENUM COFACTOR SYNTHESIS GENE 2; MOCS2
Cytogenetic location: 5q11.2, Genomic coordinates (GRCh38): 5:53,095,679-53,109,757
Matching terms: 603708
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
5q11.2	Molybdenum cofactor deficiency B	252160	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 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: 1003368009

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* 603930. GEPHYRIN; GPHN
MLL/GPHN FUSION GENE, INCLUDED
Cytogenetic location: 14q23.3-q24.1, Genomic coordinates (GRCh38): 14:66,508,147-67,735,355
Matching terms: 603930
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
14q23.3-q24.1	Molybdenum cofactor deficiency C	615501	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 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: 1003387003

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# 252150. MOLYBDENUM COFACTOR DEFICIENCY, TYPE A; MOCODA
Cytogenetic location: 6p21.2
Matching terms: 252150
► 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
6p21.2	Molybdenum cofactor deficiency A	252150	AR	3	MOCS1	603707

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Molybdenum cofactor deficiency - PS252150 - 3 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
5q11.2	Molybdenum cofactor deficiency B	AR	3	252160	MOCS2	603708
6p21.2	Molybdenum cofactor deficiency A	AR	3	252150	MOCS1	603707
14q23.3-q24.1	Molybdenum cofactor deficiency C	AR	3	615501	GPHN	603930

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Links
Testing GTR EuroGentest Sulfite oxidase deficiency… Encephalopathy due to sulf… Sulfite oxidase deficiency…	Clinical Resources Clinical Trials EuroGentest Sulfite oxidase deficiency… Encephalopathy due to sulf… Sulfite oxidase deficiency… Gene Reviews Genetic Alliance GTR OrphaNet Sulfite oxidase deficiency… Encephalopathy due to sulf… Sulfite oxidase deficiency…	Animal Models Alliance Genome MGI Mouse Phenotype OMIA Wormbase Disease Ontology	Cell Lines Coriell

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ICD+
SNOMEDCT: 1003367004 ORPHA: 308386, 833, 99732 DO: 0111164

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# 252160. MOLYBDENUM COFACTOR DEFICIENCY, TYPE B; MOCODB
Cytogenetic location: 5q11.2
Matching terms: 252160
► 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
5q11.2	Molybdenum cofactor deficiency B	252160	AR	3	MOCS2	603708

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Molybdenum cofactor deficiency - PS252150 - 3 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
5q11.2	Molybdenum cofactor deficiency B	AR	3	252160	MOCS2	603708
6p21.2	Molybdenum cofactor deficiency A	AR	3	252150	MOCS1	603707
14q23.3-q24.1	Molybdenum cofactor deficiency C	AR	3	615501	GPHN	603930

▲ Close

Links
Testing GTR EuroGentest Sulfite oxidase deficiency… Encephalopathy due to sulf… Sulfite oxidase deficiency…	Clinical Resources Clinical Trials EuroGentest Sulfite oxidase deficiency… Encephalopathy due to sulf… Sulfite oxidase deficiency… Gene Reviews GTR OrphaNet Sulfite oxidase deficiency… Encephalopathy due to sulf… Sulfite oxidase deficiency…	Animal Models Alliance Genome MGI Mouse Phenotype Wormbase Disease Ontology

▲ Close

ICD+
SNOMEDCT: 1003368009 ORPHA: 308393, 833, 99732 DO: 0111163

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Search: 252150 252160 603707 603708 603930 609277 615501 (Search in: MIM number)

Results: 7 entries.

* 609277. MOLYBDENUM COFACTOR SYNTHESIS 3; MOCS3
Cytogenetic location: 20q13.13, Genomic coordinates (GRCh38): 20:50,958,818-50,963,929
Matching terms: 609277

# 615501. MOLYBDENUM COFACTOR DEFICIENCY, TYPE C; MOCODC
Cytogenetic location: 14q23.3-q24.1
Matching terms: 615501

* 603707. MOLYBDENUM COFACTOR SYNTHESIS GENE 1; MOCS1
MOCS1A, INCLUDED
Cytogenetic location: 6p21.2, Genomic coordinates (GRCh38): 6:39,904,170-39,934,462
Matching terms: 603707

* 603708. MOLYBDENUM COFACTOR SYNTHESIS GENE 2; MOCS2
Cytogenetic location: 5q11.2, Genomic coordinates (GRCh38): 5:53,095,679-53,109,757
Matching terms: 603708

* 603930. GEPHYRIN; GPHN
MLL/GPHN FUSION GENE, INCLUDED
Cytogenetic location: 14q23.3-q24.1, Genomic coordinates (GRCh38): 14:66,508,147-67,735,355
Matching terms: 603930

# 252150. MOLYBDENUM COFACTOR DEFICIENCY, TYPE A; MOCODA
Cytogenetic location: 6p21.2
Matching terms: 252150

# 252160. MOLYBDENUM COFACTOR DEFICIENCY, TYPE B; MOCODB
Cytogenetic location: 5q11.2
Matching terms: 252160

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