Entry Search - 276901 602851 605472 607928 608400 611383

Search: '276901 602851 605472 607928 608400 611383 (Search in: MIM number)'

Results: 6 entries.

# 276901. USHER SYNDROME, TYPE IIA; USH2A
Cytogenetic locations: 1q41, 10q24.31
Matching terms: 276901
► 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
1q41	Usher syndrome, type 2A	276901	AR	3	USH2A	608400
10q24.31	{Retinal disease in Usher syndrome type IIA, modifier of}	276901	AR	3	PDZD7	612971

▲ Close

Usher syndrome - PS276900 - 20 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1q41	Usher syndrome, type 2A	AR	3	276901	USH2A	608400
3q25.1	Usher syndrome, type 3A	AR	3	276902	CLRN1	606397
5q14.3	Usher syndrome, type 2C	AR, DD	3	605472	ADGRV1	602851
5q14.3	Usher syndrome, type 2C, GPR98/PDZD7 digenic	AR, DD	3	605472	ADGRV1	602851
5q31.3	Usher syndrome type 3B	AR	3	614504	HARS1	142810
9q32	Usher syndrome, type 2D	AR	3	611383	WHRN	607928
10p11.21-q21.1	Usher syndrome, type IK	AR	2	614990	USH1K	614990
10q21.1	Usher syndrome, type 1D/F digenic	AR, DR	3	601067	PCDH15	605514
10q21.1	Usher syndrome, type 1F	AR	3	602083	PCDH15	605514
10q22.1	Usher syndrome, type 1D	AR, DR	3	601067	CDH23	605516
10q22.1	Usher syndrome, type 1D/F digenic	AR, DR	3	601067	CDH23	605516
10q24.31	{Retinal disease in Usher syndrome type IIA, modifier of}	AR	3	276901	PDZD7	612971
10q24.31	Usher syndrome, type IIC, GPR98/PDZD7 digenic	AR, DD	3	605472	PDZD7	612971
11p15.1	Usher syndrome, type 1C	AR	3	276904	USH1C	605242
11q13.5	Usher syndrome, type 1B	AR	3	276900	MYO7A	276903
15q22-q23	Usher syndrome, type 1H		2	612632	USH1H	612632
15q25.1	Usher syndrome, type IJ	AR	3	614869	CIB2	605564
17q24.2	Usher syndrome, type IV	AR	3	618144	ARSG	610008
17q25.1	Usher syndrome, type 1G	AR	3	606943	USH1G	607696
21q21	Usher syndrome, type 1E	AR	2	602097	USH1E	602097

▲ Close

Links
Testing GTR EuroGentest Usher syndrome type 2 Usher syndrome	Clinical Resources Clinical Trials EuroGentest Usher syndrome type 2 Usher syndrome Gene Reviews Genetic Alliance GTR OrphaNet Usher syndrome type 2 Usher syndrome	Animal Models Alliance Genome MGI Mouse Phenotype OMIA	Cell Lines Coriell

▲ Close

ICD+
ORPHA: 231178, 886 DO: 0110838

▲ Close

# 605472. USHER SYNDROME, TYPE IIC; USH2C
USHER SYNDROME, TYPE IIC, GPR98/PDZD7, DIGENIC, INCLUDED
Cytogenetic locations: 5q14.3, 10q24.31
Matching terms: 605472
► 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
5q14.3	Usher syndrome, type 2C	605472	AR, DD	3	ADGRV1	602851
5q14.3	Usher syndrome, type 2C, GPR98/PDZD7 digenic	605472	AR, DD	3	ADGRV1	602851
10q24.31	Usher syndrome, type IIC, GPR98/PDZD7 digenic	605472	AR, DD	3	PDZD7	612971

▲ Close

Usher syndrome - PS276900 - 20 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1q41	Usher syndrome, type 2A	AR	3	276901	USH2A	608400
3q25.1	Usher syndrome, type 3A	AR	3	276902	CLRN1	606397
5q14.3	Usher syndrome, type 2C	AR, DD	3	605472	ADGRV1	602851
5q14.3	Usher syndrome, type 2C, GPR98/PDZD7 digenic	AR, DD	3	605472	ADGRV1	602851
5q31.3	Usher syndrome type 3B	AR	3	614504	HARS1	142810
9q32	Usher syndrome, type 2D	AR	3	611383	WHRN	607928
10p11.21-q21.1	Usher syndrome, type IK	AR	2	614990	USH1K	614990
10q21.1	Usher syndrome, type 1D/F digenic	AR, DR	3	601067	PCDH15	605514
10q21.1	Usher syndrome, type 1F	AR	3	602083	PCDH15	605514
10q22.1	Usher syndrome, type 1D	AR, DR	3	601067	CDH23	605516
10q22.1	Usher syndrome, type 1D/F digenic	AR, DR	3	601067	CDH23	605516
10q24.31	{Retinal disease in Usher syndrome type IIA, modifier of}	AR	3	276901	PDZD7	612971
10q24.31	Usher syndrome, type IIC, GPR98/PDZD7 digenic	AR, DD	3	605472	PDZD7	612971
11p15.1	Usher syndrome, type 1C	AR	3	276904	USH1C	605242
11q13.5	Usher syndrome, type 1B	AR	3	276900	MYO7A	276903
15q22-q23	Usher syndrome, type 1H		2	612632	USH1H	612632
15q25.1	Usher syndrome, type IJ	AR	3	614869	CIB2	605564
17q24.2	Usher syndrome, type IV	AR	3	618144	ARSG	610008
17q25.1	Usher syndrome, type 1G	AR	3	606943	USH1G	607696
21q21	Usher syndrome, type 1E	AR	2	602097	USH1E	602097

▲ Close

Links
Testing GTR EuroGentest Usher syndrome type 2 Usher syndrome	Clinical Resources Clinical Trials EuroGentest Usher syndrome type 2 Usher syndrome Gene Reviews Genetic Alliance GTR OrphaNet Usher syndrome type 2 Usher syndrome	Animal Models Alliance Genome MGI Mouse Phenotype

▲ Close

ICD+
ORPHA: 231178, 886 DO: 0110839

▲ Close

* 607928. WHIRLIN; WHRN
Cytogenetic location: 9q32, Genomic coordinates (GRCh38): 9:114,402,080-114,505,473
Matching terms: 607928
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
9q32	Deafness, autosomal recessive 31	607084	AR	3
9q32	Usher syndrome, type 2D	611383	AR	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 GTR	Variation ClinVar gnomAD GWAS Catalog GWAS Central HGMD Locus Specific DBs Retinal and hearing impair… CCHMC - Human Genetics Mut… NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB ZFin	Cellular Pathways Reactome

▲ Close

* 608400. USHERIN; USH2A
Cytogenetic location: 1q41, Genomic coordinates (GRCh38): 1:215,622,891-216,423,448
Matching terms: 608400
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
1q41	Retinitis pigmentosa 39	613809	AR	3
1q41	Usher syndrome, type 2A	276901	AR	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 Locus Specific DBs Retinal and hearing impair… Mutations of the USH2a Gene The UMD USH2A mutations da… CCHMC Molecular Genetics L… NHLBI EVS PharmGKB	Animal Models Alliance Genome IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OMIA OrthoDB ZFin	Cellular Pathways Reactome

▲ Close

# 611383. USHER SYNDROME, TYPE IID; USH2D
Cytogenetic location: 9q32
Matching terms: 611383
► 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
9q32	Usher syndrome, type 2D	611383	AR	3	WHRN	607928

▲ Close

Usher syndrome - PS276900 - 20 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1q41	Usher syndrome, type 2A	AR	3	276901	USH2A	608400
3q25.1	Usher syndrome, type 3A	AR	3	276902	CLRN1	606397
5q14.3	Usher syndrome, type 2C	AR, DD	3	605472	ADGRV1	602851
5q14.3	Usher syndrome, type 2C, GPR98/PDZD7 digenic	AR, DD	3	605472	ADGRV1	602851
5q31.3	Usher syndrome type 3B	AR	3	614504	HARS1	142810
9q32	Usher syndrome, type 2D	AR	3	611383	WHRN	607928
10p11.21-q21.1	Usher syndrome, type IK	AR	2	614990	USH1K	614990
10q21.1	Usher syndrome, type 1D/F digenic	AR, DR	3	601067	PCDH15	605514
10q21.1	Usher syndrome, type 1F	AR	3	602083	PCDH15	605514
10q22.1	Usher syndrome, type 1D	AR, DR	3	601067	CDH23	605516
10q22.1	Usher syndrome, type 1D/F digenic	AR, DR	3	601067	CDH23	605516
10q24.31	{Retinal disease in Usher syndrome type IIA, modifier of}	AR	3	276901	PDZD7	612971
10q24.31	Usher syndrome, type IIC, GPR98/PDZD7 digenic	AR, DD	3	605472	PDZD7	612971
11p15.1	Usher syndrome, type 1C	AR	3	276904	USH1C	605242
11q13.5	Usher syndrome, type 1B	AR	3	276900	MYO7A	276903
15q22-q23	Usher syndrome, type 1H		2	612632	USH1H	612632
15q25.1	Usher syndrome, type IJ	AR	3	614869	CIB2	605564
17q24.2	Usher syndrome, type IV	AR	3	618144	ARSG	610008
17q25.1	Usher syndrome, type 1G	AR	3	606943	USH1G	607696
21q21	Usher syndrome, type 1E	AR	2	602097	USH1E	602097

▲ Close

Links
Testing GTR EuroGentest Usher syndrome type 2 Usher syndrome	Clinical Resources Clinical Trials EuroGentest Usher syndrome type 2 Usher syndrome Gene Reviews Genetic Alliance GTR OrphaNet Usher syndrome type 2 Usher syndrome	Animal Models Alliance Genome MGI Mouse Phenotype

▲ Close

ICD+
ORPHA: 231178, 886 DO: 0110840

▲ Close

* 602851. ADHESION G PROTEIN-COUPLED RECEPTOR V1; ADGRV1
Cytogenetic location: 5q14.3, Genomic coordinates (GRCh38): 5:90,558,797-91,164,437
Matching terms: 602851
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
5q14.3	?Febrile seizures, familial, 4	604352	AD	3
	Usher syndrome, type 2C	605472	AR, DD	3
	Usher syndrome, type 2C, GPR98/PDZD7 digenic	605472	AR, DD	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 GTR	Variation ClinVar DECIPHER gnomAD GWAS Catalog GWAS Central HGMD Locus Specific DBs Retinal and hearing impair… CCHMC - Human Genetics Mut… NHLBI EVS PharmGKB	Animal Models Alliance Genome IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB ZFin	Cellular Pathways Reactome

▲ Close

Search: 276901 602851 605472 607928 608400 611383 (Search in: MIM number)

Results: 6 entries.

# 276901. USHER SYNDROME, TYPE IIA; USH2A
Cytogenetic locations: 1q41, 10q24.31
Matching terms: 276901

# 605472. USHER SYNDROME, TYPE IIC; USH2C
USHER SYNDROME, TYPE IIC, GPR98/PDZD7, DIGENIC, INCLUDED
Cytogenetic locations: 5q14.3, 10q24.31
Matching terms: 605472

* 607928. WHIRLIN; WHRN
Cytogenetic location: 9q32, Genomic coordinates (GRCh38): 9:114,402,080-114,505,473
Matching terms: 607928

* 608400. USHERIN; USH2A
Cytogenetic location: 1q41, Genomic coordinates (GRCh38): 1:215,622,891-216,423,448
Matching terms: 608400

# 611383. USHER SYNDROME, TYPE IID; USH2D
Cytogenetic location: 9q32
Matching terms: 611383

* 602851. ADHESION G PROTEIN-COUPLED RECEPTOR V1; ADGRV1
Cytogenetic location: 5q14.3, Genomic coordinates (GRCh38): 5:90,558,797-91,164,437
Matching terms: 602851

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^® 1966-2025 Johns Hopkins University.
Printed: March 5, 2025