Entry Search - 137920 189907 614527

Search: '137920 189907 614527 (Search in: MIM number)'

Results: 3 entries.

# 614527. CHROMOSOME 17q12 DELETION SYNDROME
Cytogenetic location: 17q12, Genomic coordinates (GRCh38): 17:33,500,001-39,800,000
Matching terms: 614527
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
17q12	Chromosome 17q12 deletion syndrome	614527	AD	4

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Links
Testing GTR EuroGentest	Clinical Resources Clinical Trials EuroGentest Gene Reviews MedlinePlus Genetics GTR GARD OrphaNet POSSUM	Animal Models NCBI HomoloGene

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ICD+
ORPHA: 261265 DO: 0060404

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# 137920. RENAL CYSTS AND DIABETES SYNDROME; RCAD
Cytogenetic location: 17q12
Matching terms: 137920
► 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
17q12	Renal cysts and diabetes syndrome	137920	AD	3	HNF1B	189907

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Tubulointerstitial kidney disease - PS162000 - 5 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1q22	Tubulointerstitial kidney disease, autosomal dominant, 2	AD	3	174000	MUC1	158340
1q32.1	Tubulointerstitial kidney disease, autosomal dominant, 4	AD	3	613092	REN	179820
3q21.3	Tubulointerstitial kidney disease, autosomal dominant, 5	AD	3	617056	SEC61A1	609213
16p12.3	Tubulointerstitial kidney disease, autosomal dominant, 1	AD	3	162000	UMOD	191845
17q12	Renal cysts and diabetes syndrome	AD	3	137920	HNF1B	189907

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Links
Testing GTR EuroGentest Autosomal dominant tubuloi… HNF1B-related autosomal do…	Protein UniProt	Clinical Resources Clinical Trials DECIPHER EuroGentest Autosomal dominant tubuloi… HNF1B-related autosomal do… Gene Reviews 17q12 Recurrent Deletion S… Maturity-Onset Diabetes of… Genetic Alliance GTR OrphaNet Autosomal dominant tubuloi… HNF1B-related autosomal do… POSSUM	Animal Models MGI Mouse Phenotype NCBI HomoloGene

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ICD+
SNOMEDCT: 253864004, 609572000 ORPHA: 34149, 93111 DO: 0111101

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* 189907. HNF1 HOMEOBOX B; HNF1B
Cytogenetic location: 17q12, Genomic coordinates (GRCh38): 17:37,686,431-37,745,059
Matching terms: 189907
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
17q12	{Renal cell carcinoma}	144700		3
	Renal cysts and diabetes syndrome	137920	AD	3
	Type 2 diabetes mellitus	125853	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 ClinGen Validity MedlinePlus Genetics GTR	Variation ClinVar DECIPHER gnomAD GWAS Catalog GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models IMPC MARRVEL MGI Mouse Gene MMRRC NCBI HomoloGene ZFin	Cellular Pathways KEGG Reactome

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ICD+
SNOMEDCT: 128667008, 253864004, 44054006, 609572000, 733471003 ICD10CM: E11

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Search: 137920 189907 614527 (Search in: MIM number)

Results: 3 entries.

# 614527. CHROMOSOME 17q12 DELETION SYNDROME
Cytogenetic location: 17q12, Genomic coordinates (GRCh38): 17:33,500,001-39,800,000
Matching terms: 614527

# 137920. RENAL CYSTS AND DIABETES SYNDROME; RCAD
Cytogenetic location: 17q12
Matching terms: 137920

* 189907. HNF1 HOMEOBOX B; HNF1B
Cytogenetic location: 17q12, Genomic coordinates (GRCh38): 17:37,686,431-37,745,059
Matching terms: 189907

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Printed: April 19, 2024