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Search: '276901 602851 605472 607928 608400 611383 (Search in: MIM number)'
Results: 6 entries.

1:
# 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
ICD+
ORPHA: 231178, 886
DO: 0110838

2:
# 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, GPR98/PDZD7 digenic 605472 AR, DD 3 ADGRV1 602851
5q14.3 Usher syndrome, type 2C 605472 AR, DD 3 ADGRV1 602851
10q24.31 Usher syndrome, type IIC, GPR98/PDZD7 digenic 605472 AR, DD 3 PDZD7 612971
ICD+
ORPHA: 231178, 886
DO: 0110839

3:
* 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
Usher syndrome, type 2D 611383 AR 3

5:
* 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

6:
# 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
ICD+
ORPHA: 231178, 886
DO: 0110840
Search: 276901 602851 605472 607928 608400 611383 (Search in: MIM number)
Results: 6 entries.

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

2:
# 605472. USHER SYNDROME, TYPE IIC; USH2C
USHER SYNDROME, TYPE IIC, GPR98/PDZD7, DIGENIC, INCLUDED
Cytogenetic locations: 5q14.3, 10q24.31
Matching terms: 605472

3:
* 607928. WHIRLIN; WHRN
Cytogenetic location: 9q32, Genomic coordinates (GRCh38): 9:114,402,080-114,505,473
Matching terms: 607928

4:
* 608400. USHERIN; USH2A
Cytogenetic location: 1q41, Genomic coordinates (GRCh38): 1:215,622,891-216,423,448
Matching terms: 608400

5:
* 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

6:
# 611383. USHER SYNDROME, TYPE IID; USH2D
Cytogenetic location: 9q32
Matching terms: 611383