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Search: 'SHOX'

Results: 18 entries.

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* 312865. SHORT STATURE HOMEOBOX; SHOX
Cytogenetic location: Xp22.33, Genomic coordinates (GRCh38): X:624,343-659,410
Matching terms: shox
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
Xp22.33	Langer mesomelic dysplasia	249700	AR	3
	Leri-Weill dyschondrosteosis	127300	AD	3
	Short stature, idiopathic familial	300582		3

Links
Genome Ensembl NCBI Map Viewer UCSC Genome Browser	DNA Ensembl NCBI RefSeq UCSC Genome Browser	Protein Human Protein Atlas UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG NCBI Gene UCSC	Clinical Resources ClinGen Dosage Genetics Home Reference	Variation 1000 Genome ClinVar ExAC GWAS Central HGMD HGVS Locus Specific DBs NHLBI EVS PharmGKB	Animal Models KOMP NCBI HomoloGene OMIA ZFin	Cell Lines Coriell	Cellular Pathways Reactome

# 127300. LERI-WEILL DYSCHONDROSTEOSIS; LWD
MADELUNG DEFORMITY, INCLUDED
Cytogenetic locations: Xp22.33, Yp11.2
Matching terms: shox
► Phenotype-Gene Relationships ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
Xp22.33	Leri-Weill dyschondrosteosis	127300	AD	3	SHOX	312865
Yp11.2	Leri-Weill dyschondrosteosis	127300	AD	3	SHOXY	400020

Links
Testing GTR EuroGentest	Protein UniProt	Clinical Resources Clinical Trials DECIPHER EuroGentest Gene Reviews Genetic Alliance Genetics Home Reference GTR GARD OrphaNet POSSUM	Animal Models MGI Mouse Phenotype NCBI HomoloGene	Cell Lines Coriell

ICD+
SNOMEDCT: 17818006, 4530000 ICD10CM: Q74.0 ICD9CM: 755.54 ORPHA: 240, 35688 DO: 0060847

# 300582. SHORT STATURE, IDIOPATHIC, X-LINKED; ISS
Cytogenetic locations: Xp22.33, Yp11.2
Matching terms: shox
► Phenotype-Gene Relationships ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
Xp22.33	Short stature, idiopathic familial	300582		3	SHOX	312865
Yp11.2	Short stature, idiopathic familial	300582		3	SHOXY	400020

Links
Testing GTR EuroGentest	Protein UniProt	Clinical Resources Clinical Trials EuroGentest Genetic Alliance Genetics Home Reference GTR OrphaNet	Animal Models MGI Mouse Phenotype NCBI HomoloGene

ICD+
ORPHA: 314795

# 249700. LANGER MESOMELIC DYSPLASIA; LMD
Cytogenetic locations: Xp22.33, Yp11.2
Matching terms: shox
► Phenotype-Gene Relationships ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
Xp22.33	Langer mesomelic dysplasia	249700	AR	3	SHOX	312865
Yp11.2	Langer mesomelic dysplasia	249700	AR	3	SHOXY	400020

Links
Testing GTR EuroGentest	Protein UniProt	Clinical Resources Clinical Trials EuroGentest Genetic Alliance Genetics Home Reference GTR GARD OrphaNet POSSUM	Animal Models MGI Mouse Phenotype NCBI HomoloGene	Cell Lines Coriell

ICD+
SNOMEDCT: 38494008 ORPHA: 2632

* 602504. SHORT STATURE HOMEOBOX 2; SHOX2
Cytogenetic location: 3q25.32, Genomic coordinates (GRCh38): 3:158,096,010-158,106,211
Matching terms: shox
► Links

Links
Testing GTR	Genome Ensembl NCBI Map Viewer UCSC Genome Browser	DNA Ensembl NCBI RefSeq UCSC Genome Browser	Protein HPRD Human Protein Atlas UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG NCBI Gene UCSC	Clinical Resources GTR	Variation 1000 Genome ClinVar ExAC GWAS Central HGVS NHLBI EVS PharmGKB	Animal Models IMPC KOMP MGI Mouse Gene NCBI HomoloGene ZFin	Cellular Pathways Reactome

* 600295. NATRIURETIC PEPTIDE PRECURSOR B; NPPB
Cytogenetic location: 1p36.22, Genomic coordinates (GRCh38): 1:11,857,463-11,858,934
Matching terms: shox
► Links

Links
Testing GTR	Genome Ensembl NCBI Map Viewer UCSC Genome Browser	DNA Ensembl NCBI RefSeq UCSC Genome Browser	Protein HPRD Human Protein Atlas UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG NCBI Gene UCSC	Clinical Resources GTR	Variation 1000 Genome ClinVar ExAC GWAS Central HGVS NHLBI EVS PharmGKB	Animal Models KOMP NCBI HomoloGene	Cellular Pathways KEGG Reactome

% 300221. LYMPHOMA, HODGKIN, X-LINKED PSEUDOAUTOSOMAL
Cytogenetic location: Xpter-p22.32, Genomic coordinates (GRCh38): X:0-6,100,000
Matching terms: shox
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
Xpter-p22.32	{Hodgkin disease susceptibility, pseudoautosomal}	300221		2

Links
Testing EuroGentest	Gene Info BioGPS KEGG NCBI Gene	Clinical Resources Clinical Trials EuroGentest Genetic Alliance GARD OrphaNet	Animal Models MGI Mouse Phenotype

ICD+
ORPHA: 391 DO: 8567

# 302950. CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1
Cytogenetic location: Xp22.33
Matching terms: shox
► Phenotype-Gene Relationships ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
Xp22.33	Chondrodysplasia punctata, X-linked recessive	302950	XLR	3	ARSE	300180

Links
Testing GTR EuroGentest	Protein UniProt	Clinical Resources Clinical Trials EuroGentest Gene Reviews Genetic Alliance Genetics Home Reference GTR GARD OrphaNet POSSUM	Animal Models MGI Mouse Phenotype NCBI HomoloGene

ICD+
ORPHA: 79345 DO: 0060292

* 313430. SRY-BOX 3; SOX3
Cytogenetic location: Xq27.1, Genomic coordinates (GRCh38): X:140,502,986-140,505,059
Matching terms: shox
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
Xq27.1	Mental retardation, X-linked, with isolated growth hormone deficiency	300123		3
Xq27.1	Panhypopituitarism, X-linked	312000	XL	3

Links
Testing Gene Tests GTR	Genome Ensembl NCBI Map Viewer UCSC Genome Browser	DNA Ensembl NCBI RefSeq UCSC Genome Browser	Protein HPRD Human Protein Atlas UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG NCBI Gene UCSC	Clinical Resources ClinGen Dosage Gene Tests GTR	Variation 1000 Genome ClinVar ExAC GWAS Central HGMD HGVS Locus Specific DBs NHLBI EVS PharmGKB	Animal Models IMPC KOMP MGI Mouse Gene NCBI HomoloGene ZFin	Cellular Pathways Reactome

10:

% 156232. MESOMELIC DYSPLASIA, KANTAPUTRA TYPE; MMDK
Cytogenetic location: 2q24-q32, Genomic coordinates (GRCh38): 2:154,000,000-196,600,000
Matching terms: shox
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
2q24-q32	Mesomelic dysplasia, Kantaputra type	156232	AD	2

Links
Testing GTR EuroGentest	Gene Info BioGPS KEGG NCBI Gene	Clinical Resources Clinical Trials EuroGentest Genetic Alliance GTR GARD OrphaNet POSSUM	Animal Models MGI Mouse Phenotype

ICD+
SNOMEDCT: 719397009 ORPHA: 1836

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Search: SHOX

Results: 18 entries.

* 312865. SHORT STATURE HOMEOBOX; SHOX
Cytogenetic location: Xp22.33, Genomic coordinates (GRCh38): X:624,343-659,410
Matching terms: shox
Gene-Phenotype Relationships

# 127300. LERI-WEILL DYSCHONDROSTEOSIS; LWD
MADELUNG DEFORMITY, INCLUDED
Cytogenetic locations: Xp22.33, Yp11.2
Matching terms: shox
Phenotype-Gene Relationships ICD+

# 300582. SHORT STATURE, IDIOPATHIC, X-LINKED; ISS
Cytogenetic locations: Xp22.33, Yp11.2
Matching terms: shox
Phenotype-Gene Relationships ICD+

# 249700. LANGER MESOMELIC DYSPLASIA; LMD
Cytogenetic locations: Xp22.33, Yp11.2
Matching terms: shox
Phenotype-Gene Relationships ICD+

* 602504. SHORT STATURE HOMEOBOX 2; SHOX2
Cytogenetic location: 3q25.32, Genomic coordinates (GRCh38): 3:158,096,010-158,106,211
Matching terms: shox

* 600295. NATRIURETIC PEPTIDE PRECURSOR B; NPPB
Cytogenetic location: 1p36.22, Genomic coordinates (GRCh38): 1:11,857,463-11,858,934
Matching terms: shox

% 300221. LYMPHOMA, HODGKIN, X-LINKED PSEUDOAUTOSOMAL
Cytogenetic location: Xpter-p22.32, Genomic coordinates (GRCh38): X:0-6,100,000
Matching terms: shox
Gene-Phenotype Relationships ICD+

# 302950. CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1
Cytogenetic location: Xp22.33
Matching terms: shox
Phenotype-Gene Relationships ICD+

* 313430. SRY-BOX 3; SOX3
Cytogenetic location: Xq27.1, Genomic coordinates (GRCh38): X:140,502,986-140,505,059
Matching terms: shox
Gene-Phenotype Relationships

10:

% 156232. MESOMELIC DYSPLASIA, KANTAPUTRA TYPE; MMDK
Cytogenetic location: 2q24-q32, Genomic coordinates (GRCh38): 2:154,000,000-196,600,000
Matching terms: shox
Gene-Phenotype Relationships ICD+