Entry Search - 138800 180295 601200 606241

Search: '138800 180295 601200 606241 (Search in: MIM number)'

Results: 4 entries.

* 606241. DICER 1, RIBONUCLEASE III; DICER1
Cytogenetic location: 14q32.13, Genomic coordinates (GRCh38): 14:95,086,228-95,158,010
Matching terms: 606241
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
14q32.13	GLOW syndrome, somatic mosaic	618272		3
	Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors	138800	AD	3
	Pleuropulmonary blastoma	601200	AD	3
	Rhabdomyosarcoma, embryonal, 2	180295		3

▲ Close

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 Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB Wormbase Gene Wormbase Gene ZFin	Cellular Pathways KEGG Reactome

▲ Close

ICD+
SNOMEDCT: 702411003, 782722002

▲ Close

# 180295. RHABDOMYOSARCOMA, EMBRYONAL, 2; RMSE2
Cytogenetic location: 14q32.13
Matching terms: 180295
► Phenotype-Gene Relationships ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
14q32.13	Rhabdomyosarcoma, embryonal, 2	180295		3	DICER1	606241

▲ Close

Links
Testing GTR	Protein UniProt	Clinical Resources Clinical Trials Gene Reviews GTR

▲ Close

# 138800. GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS; MNG1
Cytogenetic location: 14q32.13
Matching terms: 138800
► 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
14q32.13	Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors	138800	AD	3	DICER1	606241

▲ Close

Goiter, multinodular - PS138800 - 3 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
3q26.1-q26.3	Goiter, multinodular, 3		2	606082	MNG3	606082
14q32.13	Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors	AD	3	138800	DICER1	606241
Xp22	Goiter, multinodular, 2	XLD	2	300273	MNG2	300273

▲ Close

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

▲ Close

ICD+
ORPHA: 276399 DO: 0050489

▲ Close

# 601200. PLEUROPULMONARY BLASTOMA; PPB
Cytogenetic location: 14q32.13
Matching terms: 601200
► Phenotype-Gene Relationships ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
14q32.13	Pleuropulmonary blastoma	601200	AD	3	DICER1	606241

▲ Close

Links
Testing GTR EuroGentest DICER1 tumor-predispositio… Pleuropulmonary blastoma	Protein UniProt	Clinical Resources Clinical Trials EuroGentest DICER1 tumor-predispositio… Pleuropulmonary blastoma Gene Reviews Genetic Alliance MedlinePlus Genetics GTR GARD Pleuropulmonary blastoma f… Pleuropulmonary blastoma OrphaNet DICER1 tumor-predispositio… Pleuropulmonary blastoma	Animal Models Alliance Genome MGI Mouse Phenotype Wormbase Disease Ontology

▲ Close

ICD+
SNOMEDCT: 702411003 ORPHA: 284343, 64742 DO: 0081063

▲ Close

Search: 138800 180295 601200 606241 (Search in: MIM number)

Results: 4 entries.

* 606241. DICER 1, RIBONUCLEASE III; DICER1
Cytogenetic location: 14q32.13, Genomic coordinates (GRCh38): 14:95,086,228-95,158,010
Matching terms: 606241

# 180295. RHABDOMYOSARCOMA, EMBRYONAL, 2; RMSE2
Cytogenetic location: 14q32.13
Matching terms: 180295

# 138800. GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS; MNG1
Cytogenetic location: 14q32.13
Matching terms: 138800

# 601200. PLEUROPULMONARY BLASTOMA; PPB
Cytogenetic location: 14q32.13
Matching terms: 601200

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM^® and Online Mendelian Inheritance in Man^® are registered trademarks of the Johns Hopkins University.
Copyright^® 1966-2024 Johns Hopkins University.
Printed: June 1, 2024