Entry Search - 103580 139320 166350 603233 603666 610540 612462 612463

Search: '103580 139320 166350 603233 603666 610540 612462 612463 (Search in: MIM number)'

Results: 8 entries.

* 139320. GNAS COMPLEX LOCUS; GNAS
GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-STIMULATING ACTIVITY POLYPEPTIDE 1, INCLUDED; GNAS1, INCLUDED
Cytogenetic location: 20q13.32, Genomic coordinates (GRCh38): 20:58,839,748-58,911,192
Matching terms: 139320
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
20q13.32	ACTH-independent macronodular adrenal hyperplasia	219080	SMu	3
	McCune-Albright syndrome, somatic, mosaic	174800		3
	Osseous heteroplasia, progressive	166350	AD	3
	Pituitary adenoma 3, multiple types, somatic	617686		3
	Pseudohypoparathyroidism Ia	103580	AD	3
	Pseudohypoparathyroidism Ib	603233	AD	3
	Pseudohypoparathyroidism Ic	612462	AD	3
	Pseudopseudohypoparathyroidism	612463	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 Dosage 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 OMIA OrthoDB Wormbase Gene Wormbase Gene ZFin	Cellular Pathways KEGG Reactome

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ICD+
SNOMEDCT: 237659007, 404074003, 58833000, 71304002, 717792007, 719271000

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# 103580. PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A
Cytogenetic location: 20q13.32
Matching terms: 103580
► Phenotype-Gene Relationships ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
20q13.32	Pseudohypoparathyroidism Ia	103580	AD	3	GNAS	139320

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Links
Testing GTR EuroGentest	Protein UniProt	Clinical Resources Clinical Trials EuroGentest Gene Reviews Genetic Alliance GTR GARD OrphaNet POSSUM	Animal Models Alliance Genome MGI Mouse Phenotype OMIA Wormbase Disease Ontology	Cell Lines Coriell

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ICD+
SNOMEDCT: 58833000 ORPHA: 79443 DO: 0080053

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# 166350. OSSEOUS HETEROPLASIA, PROGRESSIVE; POH
Cytogenetic location: 20q13.32
Matching terms: 166350
► Phenotype-Gene Relationships ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
20q13.32	Osseous heteroplasia, progressive	166350	AD	3	GNAS	139320

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

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ICD+
SNOMEDCT: 404074003, 71304002, 719271000 ORPHA: 2762 DO: 0111535

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# 603233. PSEUDOHYPOPARATHYROIDISM, TYPE IB; PHP1B
Cytogenetic locations: 20q13.32, 20q13.32, 20q13.32
Matching terms: 603233
► Phenotype-Gene Relationships ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
20q13.32	Pseudohypoparathyroidism Ib	603233	AD	3	STX16	603666
20q13.32	Pseudohypoparathyroidism Ib	603233	AD	3	GNASAS1	610540
20q13.32	Pseudohypoparathyroidism Ib	603233	AD	3	GNAS	139320

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

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ICD+
ORPHA: 94089 DO: 0080222

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* 603666. SYNTAXIN 16; STX16
Cytogenetic location: 20q13.32, Genomic coordinates (GRCh38): 20:58,651,283-58,679,526
Matching terms: 603666
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
20q13.32	Pseudohypoparathyroidism Ib	603233	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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* 610540. GNAS COMPLEX LOCUS, ANTISENSE TRANSCRIPT 1; GNASAS1
Cytogenetic location: 20q13.32, Genomic coordinates (GRCh38): 20:58,818,918-58,850,902
Matching terms: 610540
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
20q13.32	Pseudohypoparathyroidism Ib	603233	AD	3

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Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl NCBI RefSeq UCSC Genome Browser	Protein Human Protein Atlas	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 IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB

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# 612462. PSEUDOHYPOPARATHYROIDISM, TYPE IC; PHP1C
Cytogenetic location: 20q13.32
Matching terms: 612462
► Phenotype-Gene Relationships ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
20q13.32	Pseudohypoparathyroidism Ic	612462	AD	3	GNAS	139320

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

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ICD+
SNOMEDCT: 717792007 ORPHA: 79444 DO: 4184

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# 612463. PSEUDOPSEUDOHYPOPARATHYROIDISM; PPHP
Cytogenetic location: 20q13.32
Matching terms: 612463
► Phenotype-Gene Relationships ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
20q13.32	Pseudopseudohypoparathyroidism	612463	AD	3	GNAS	139320

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

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ICD+
SNOMEDCT: 237659007 ORPHA: 79445 DO: 4183

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Search: 103580 139320 166350 603233 603666 610540 612462 612463 (Search in: MIM number)

Results: 8 entries.

# 103580. PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A
Cytogenetic location: 20q13.32
Matching terms: 103580

# 166350. OSSEOUS HETEROPLASIA, PROGRESSIVE; POH
Cytogenetic location: 20q13.32
Matching terms: 166350

# 603233. PSEUDOHYPOPARATHYROIDISM, TYPE IB; PHP1B
Cytogenetic locations: 20q13.32, 20q13.32, 20q13.32
Matching terms: 603233

* 603666. SYNTAXIN 16; STX16
Cytogenetic location: 20q13.32, Genomic coordinates (GRCh38): 20:58,651,283-58,679,526
Matching terms: 603666

* 610540. GNAS COMPLEX LOCUS, ANTISENSE TRANSCRIPT 1; GNASAS1
Cytogenetic location: 20q13.32, Genomic coordinates (GRCh38): 20:58,818,918-58,850,902
Matching terms: 610540

# 612462. PSEUDOHYPOPARATHYROIDISM, TYPE IC; PHP1C
Cytogenetic location: 20q13.32
Matching terms: 612462

# 612463. PSEUDOPSEUDOHYPOPARATHYROIDISM; PPHP
Cytogenetic location: 20q13.32
Matching terms: 612463

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Printed: June 1, 2024