Entry Search - 252500 252600 607840

Search: '252500 252600 607840 (Search in: MIM number)'

Results: 3 entries.

* 607840. N-ACETYLGLUCOSAMINE-1-PHOSPHOTRANSFERASE, ALPHA/BETA SUBUNITS; GNPTAB
Cytogenetic location: 12q23.2, Genomic coordinates (GRCh38): 12:101,745,499-101,830,959
Matching terms: 607840
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
12q23.2	Mucolipidosis II alpha/beta	252500	AR	3
12q23.2	Mucolipidosis III alpha/beta	252600	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 DECIPHER gnomAD GWAS Catalog GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OMIA OrthoDB ZFin	Cell Lines Coriell	Cellular Pathways KEGG Reactome

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ICD+
SNOMEDCT: 65764006

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# 252600. MUCOLIPIDOSIS III ALPHA/BETA
MUCOLIPIDOSIS III ALPHA/BETA, ATYPICAL, INCLUDED
Cytogenetic location: 12q23.2
Matching terms: 252600
► 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
12q23.2	Mucolipidosis III alpha/beta	252600	AR	3	GNPTAB	607840

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Mucolipidosis - PS256550 - 6 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
6p21.33	Sialidosis, type I	AR	3	256550	NEU1	608272
6p21.33	Sialidosis, type II	AR	3	256550	NEU1	608272
12q23.2	Mucolipidosis III alpha/beta	AR	3	252600	GNPTAB	607840
12q23.2	Mucolipidosis II alpha/beta	AR	3	252500	GNPTAB	607840
16p13.3	Mucolipidosis III gamma	AR	3	252605	GNPTG	607838
19p13.2	Mucolipidosis IV	AR	3	252650	MCOLN1	605248

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Links
Testing GTR EuroGentest Mucolipidosis type III alp… Mucolipidosis type III	Clinical Resources Clinical Trials EuroGentest Mucolipidosis type III alp… Mucolipidosis type III Gene Reviews Genetic Alliance MedlinePlus Genetics GTR OrphaNet Mucolipidosis type III alp… Mucolipidosis type III POSSUM	Animal Models Alliance Genome MGI Mouse Phenotype OMIA	Cell Lines Coriell

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ICD+
SNOMEDCT: 65764006 ORPHA: 423461, 577 DO: 0080071

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# 252500. MUCOLIPIDOSIS II ALPHA/BETA
Cytogenetic location: 12q23.2
Matching terms: 252500
► 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
12q23.2	Mucolipidosis II alpha/beta	252500	AR	3	GNPTAB	607840

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Mucolipidosis - PS256550 - 6 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
6p21.33	Sialidosis, type I	AR	3	256550	NEU1	608272
6p21.33	Sialidosis, type II	AR	3	256550	NEU1	608272
12q23.2	Mucolipidosis III alpha/beta	AR	3	252600	GNPTAB	607840
12q23.2	Mucolipidosis II alpha/beta	AR	3	252500	GNPTAB	607840
16p13.3	Mucolipidosis III gamma	AR	3	252605	GNPTG	607838
19p13.2	Mucolipidosis IV	AR	3	252650	MCOLN1	605248

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Links
Testing GTR EuroGentest	Clinical Resources Clinical Trials EuroGentest Gene Reviews Genetic Alliance MedlinePlus Genetics GTR OrphaNet POSSUM	Animal Models Alliance Genome MGI Mouse Phenotype OMIA	Cell Lines Coriell

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ICD+
SNOMEDCT: 70199000 ORPHA: 576 DO: 0080070

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Search: 252500 252600 607840 (Search in: MIM number)

Results: 3 entries.

* 607840. N-ACETYLGLUCOSAMINE-1-PHOSPHOTRANSFERASE, ALPHA/BETA SUBUNITS; GNPTAB
Cytogenetic location: 12q23.2, Genomic coordinates (GRCh38): 12:101,745,499-101,830,959
Matching terms: 607840

# 252600. MUCOLIPIDOSIS III ALPHA/BETA
MUCOLIPIDOSIS III ALPHA/BETA, ATYPICAL, INCLUDED
Cytogenetic location: 12q23.2
Matching terms: 252600

# 252500. MUCOLIPIDOSIS II ALPHA/BETA
Cytogenetic location: 12q23.2
Matching terms: 252500

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