Entry Search - 276900 276903 276904 601067 602083 602097 605242 605514 605516 605564 606943 607696 612632 614869 614990 - OMIM
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Search: '276900 276903 276904 601067 602083 602097 605242 605514 605516 605564 606943 607696 612632 614869 614990 (Search in: MIM number)'
Results: 15 entries.
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1:
# 276900. USHER SYNDROME, TYPE I; USH1
USHER SYNDROME, TYPE IB, INCLUDED; USH1B, INCLUDED
Cytogenetic location: 11q13.5
Matching terms: 276900
 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
11q13.5 Usher syndrome, type 1B 276900 AR 3 MYO7A 276903
ICD+
SNOMEDCT: 232057003
ORPHA: 231169, 886
DO: 0110826

4:
* 605516. CADHERIN 23; CDH23
Cytogenetic location: 10q22.1, Genomic coordinates (GRCh38): 10:71,396,920-71,815,947
Matching terms: 605516
 Gene-Phenotype Relationships   Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
10q22.1 {Pituitary adenoma 5, multiple types} 617540 AD 3
Deafness, autosomal recessive 12 601386 AR 3
Usher syndrome, type 1D 601067 AR, DR 3
Usher syndrome, type 1D/F digenic 601067 AR, DR 3

5:
* 605564. CALCIUM- AND INTEGRIN-BINDING PROTEIN 2; CIB2
Cytogenetic location: 15q25.1, Genomic coordinates (GRCh38): 15:78,104,606-78,131,535
Matching terms: 605564
 Gene-Phenotype Relationships   Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
15q25.1 Deafness, autosomal recessive 48 609439 AR 3
Usher syndrome, type IJ 614869 AR 3

7:
# 276904. USHER SYNDROME, TYPE IC; USH1C
Cytogenetic location: 11p15.1
Matching terms: 276904
 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
11p15.1 Usher syndrome, type 1C 276904 AR 3 USH1C 605242
ICD+
ORPHA: 231169, 886
DO: 0110830

8:
% 612632. USHER SYNDROME, TYPE IH; USH1H
Cytogenetic location: 15q22-q23, Genomic coordinates (GRCh38): 15:58,800,001-72,400,000
Matching terms: 612632
 Gene-Phenotype Relationships   Phenotypic Series   ICD+   Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
15q22-q23 Usher syndrome, type 1H 612632 2
ICD+
ORPHA: 231169, 886
DO: 0110835

9:
# 614869. USHER SYNDROME, TYPE IJ; USH1J
Cytogenetic location: 15q25.1
Matching terms: 614869
 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
15q25.1 Usher syndrome, type IJ 614869 AR 3 CIB2 605564
ICD+
ORPHA: 231169, 886
DO: 0110836

10:
% 614990. USHER SYNDROME, TYPE IK; USH1K
Cytogenetic location: 10p11.21-q21.1, Genomic coordinates (GRCh38): 10:34,200,001-59,400,000
Matching terms: 614990
 Gene-Phenotype Relationships   Phenotypic Series   ICD+   Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
10p11.21-q21.1 Usher syndrome, type IK 614990 AR 2
ICD+
ORPHA: 231169, 886
DO: 0110837

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Search: 276900 276903 276904 601067 602083 602097 605242 605514 605516 605564 606943 607696 612632 614869 614990 (Search in: MIM number)
Results: 15 entries.

1:
# 276900. USHER SYNDROME, TYPE I; USH1
USHER SYNDROME, TYPE IB, INCLUDED; USH1B, INCLUDED
Cytogenetic location: 11q13.5
Matching terms: 276900

2:
* 605242. USH1 PROTEIN NETWORK COMPONENT HARMONIN; USH1C
Cytogenetic location: 11p15.1, Genomic coordinates (GRCh38): 11:17,493,900-17,544,416
Matching terms: 605242

3:
* 605514. PROTOCADHERIN 15; PCDH15
Cytogenetic location: 10q21.1, Genomic coordinates (GRCh38): 10:53,802,771-55,627,942
Matching terms: 605514

4:
* 605516. CADHERIN 23; CDH23
Cytogenetic location: 10q22.1, Genomic coordinates (GRCh38): 10:71,396,920-71,815,947
Matching terms: 605516

5:
* 605564. CALCIUM- AND INTEGRIN-BINDING PROTEIN 2; CIB2
Cytogenetic location: 15q25.1, Genomic coordinates (GRCh38): 15:78,104,606-78,131,535
Matching terms: 605564

6:
* 276903. MYOSIN VIIA; MYO7A
Cytogenetic location: 11q13.5, Genomic coordinates (GRCh38): 11:77,128,246-77,215,241
Matching terms: 276903

7:
# 276904. USHER SYNDROME, TYPE IC; USH1C
Cytogenetic location: 11p15.1
Matching terms: 276904

8:
% 612632. USHER SYNDROME, TYPE IH; USH1H
Cytogenetic location: 15q22-q23, Genomic coordinates (GRCh38): 15:58,800,001-72,400,000
Matching terms: 612632

9:
# 614869. USHER SYNDROME, TYPE IJ; USH1J
Cytogenetic location: 15q25.1
Matching terms: 614869

10:
% 614990. USHER SYNDROME, TYPE IK; USH1K
Cytogenetic location: 10p11.21-q21.1, Genomic coordinates (GRCh38): 10:34,200,001-59,400,000
Matching terms: 614990