Entry Search - 193500 606597

Search: '193500 606597 (Search in: MIM number)'

Results: 2 entries.

* 606597. PAIRED BOX GENE 3; PAX3
PAX3/FKHR FUSION GENE, INCLUDED
Cytogenetic location: 2q36.1, Genomic coordinates (GRCh38): 2:222,199,887-222,298,998
Matching terms: 606597
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
2q36.1	Craniofacial-deafness-hand syndrome	122880	AD	3
	Rhabdomyosarcoma 2, alveolar	268220	SMu	3
	Waardenburg syndrome, type 1	193500	AD	3
	Waardenburg syndrome, type 3	148820	AD, 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 Dosage ClinGen Validity MedlinePlus Genetics 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 ZFin	Cellular Pathways KEGG Reactome

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ICD+
SNOMEDCT: 1010606009, 237918004, 702362004

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# 193500. WAARDENBURG SYNDROME, TYPE 1; WS1
Cytogenetic location: 2q36.1
Matching terms: 193500
► 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
2q36.1	Waardenburg syndrome, type 1	193500	AD	3	PAX3	606597

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Waardenburg syndrome - PS193500 - 10 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1p21-p13.3	Waardenburg syndrome, type 2B	AD	2	600193	WS2B	600193
2q36.1	Waardenburg syndrome, type 1	AD	3	193500	PAX3	606597
2q36.1	Waardenburg syndrome, type 3	AD, AR	3	148820	PAX3	606597
3p13	Waardenburg syndrome, type 2A	AD	3	193510	MITF	156845
8p23	Waardenburg syndrome, type 2C		2	606662	WS2C	606662
12q21.32	Waardenburg syndrome, type 2F	AR	3	619947	KITLG	184745
13q22.3	Waardenburg syndrome, type 4A	AD, AR	3	277580	EDNRB	131244
20q13.32	Waardenburg syndrome, type 4B	AD, AR	3	613265	EDN3	131242
22q13.1	Waardenburg syndrome, type 4C	AD	3	613266	SOX10	602229
22q13.1	Waardenburg syndrome, type 2E, with or without neurologic involvement	AD	3	611584	SOX10	602229

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Links
Testing GTR EuroGentest Waardenburg syndrome Waardenburg syndrome type 1	Clinical Resources Clinical Trials EuroGentest Waardenburg syndrome Waardenburg syndrome type 1 Gene Reviews Genetic Alliance GTR OrphaNet Waardenburg syndrome Waardenburg syndrome type 1 POSSUM	Animal Models Alliance Genome MGI Mouse Phenotype OMIA

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ICD+
SNOMEDCT: 1010606009 ORPHA: 3440, 894 DO: 0110948

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Search: 193500 606597 (Search in: MIM number)

Results: 2 entries.

* 606597. PAIRED BOX GENE 3; PAX3
PAX3/FKHR FUSION GENE, INCLUDED
Cytogenetic location: 2q36.1, Genomic coordinates (GRCh38): 2:222,199,887-222,298,998
Matching terms: 606597

# 193500. WAARDENBURG SYNDROME, TYPE 1; WS1
Cytogenetic location: 2q36.1
Matching terms: 193500

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