Entry Search - 133540 216400 609412 609413 - OMIM
View Results as: Gene Map Table   Clinical Synopsis  

Search: '133540 216400 609412 609413 (Search in: MIM number)'
Results: 4 entries.

1:
# 133540. COCKAYNE SYNDROME B; CSB
Cytogenetic location: 10q11.23
Matching terms: 133540
 Phenotype-Gene Relationships   ICD+   Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
Gene/Locus Gene/Locus
MIM number
10q11.23 Cockayne syndrome, type B 133540 AR 3 ERCC6 609413
ICD+
SNOMEDCT: 890434000
ORPHA: 191, 90321, 90322, 90324
DO: 0080908

3:
# 216400. COCKAYNE SYNDROME A; CSA
Cytogenetic location: 5q12.1
Matching terms: 216400
 Phenotype-Gene Relationships   ICD+   Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
Gene/Locus Gene/Locus
MIM number
5q12.1 Cockayne syndrome, type A 216400 AR 3 ERCC8 609412
ICD+
SNOMEDCT: 890433006
ORPHA: 191, 90321, 90322, 90324
DO: 0080907

4:
* 609413. ERCC EXCISION REPAIR 6, CHROMATIN REMODELING FACTOR; ERCC6
PIGGYBAC TRANSPOSABLE ELEMENT-DERIVED 3, INCLUDED; PGBD3, INCLUDED
Cytogenetic location: 10q11.23, Genomic coordinates (GRCh38): 10:49,434,881-49,539,538
Matching terms: 609413
 Gene-Phenotype Relationships   ICD+   Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
10q11.23 ?De Sanctis-Cacchione syndrome 278800 AR 3
{Lung cancer, susceptibility to} 211980 AD, SMu 3
{Macular degeneration, age-related, susceptibility to, 5} 613761 3
Cerebrooculofacioskeletal syndrome 1 214150 AR 3
Cockayne syndrome, type B 133540 AR 3
Premature ovarian failure 11 616946 AD 3
UV-sensitive syndrome 1 600630 AR 3
ICD+
SNOMEDCT: 890434000
Search: 133540 216400 609412 609413 (Search in: MIM number)
Results: 4 entries.

1:
# 133540. COCKAYNE SYNDROME B; CSB
Cytogenetic location: 10q11.23
Matching terms: 133540

2:
* 609412. ERCC EXCISION REPAIR 8, CSA UBIQUITIN LIGASE COMPLEX SUBUNIT; ERCC8
Cytogenetic location: 5q12.1, Genomic coordinates (GRCh38): 5:60,866,454-60,945,070
Matching terms: 609412

3:
# 216400. COCKAYNE SYNDROME A; CSA
Cytogenetic location: 5q12.1
Matching terms: 216400

4:
* 609413. ERCC EXCISION REPAIR 6, CHROMATIN REMODELING FACTOR; ERCC6
PIGGYBAC TRANSPOSABLE ELEMENT-DERIVED 3, INCLUDED; PGBD3, INCLUDED
Cytogenetic location: 10q11.23, Genomic coordinates (GRCh38): 10:49,434,881-49,539,538
Matching terms: 609413