Entry Search - 191092 191100 605284 613254 - OMIM
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Search: '191092 191100 605284 613254 (Search in: MIM number)'
Results: 4 entries.

1:
# 613254. TUBEROUS SCLEROSIS 2; TSC2
TSC2 ANGIOMYOLIPOMAS, RENAL, MODIFIER OF, INCLUDED
Cytogenetic locations: 12q15, 16p13.3
Matching terms: 613254
 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
12q15 {TSC2 angiomyolipomas, renal, modifier of} 613254 AD 3 IFNG 147570
16p13.3 Tuberous sclerosis-2 613254 AD 3 TSC2 191092
Tuberous sclerosis - PS191100 - 3 Entries
ICD+
ORPHA: 805
DO: 0080325

2:
# 191100. TUBEROUS SCLEROSIS 1; TSC1
Cytogenetic location: 9q34.13
Matching terms: 191100
 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
9q34.13 Tuberous sclerosis-1 191100 AD 3 TSC1 605284
Tuberous sclerosis - PS191100 - 3 Entries
ICD+
SNOMEDCT: 7199000
ICD10CM: Q85.1
ICD9CM: 759.5
ORPHA: 805
DO: 0080324

3:
* 605284. TSC COMPLEX SUBUNIT 1; TSC1
Cytogenetic location: 9q34.13, Genomic coordinates (GRCh38): 9:132,891,349-132,945,378
Matching terms: 605284
 Gene-Phenotype Relationships   ICD+   Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
9q34.13 Focal cortical dysplasia, type II, somatic 607341 3
Lymphangioleiomyomatosis 606690 3
Tuberous sclerosis-1 191100 AD 3
ICD+
SNOMEDCT: 73017001
ICD10CM: J84.81
ICD9CM: 516.4

4:
* 191092. TSC COMPLEX SUBUNIT 2; TSC2
Cytogenetic location: 16p13.3, Genomic coordinates (GRCh38): 16:2,047,985-2,089,491
Matching terms: 191092
 Gene-Phenotype Relationships   Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
16p13.3 ?Focal cortical dysplasia, type II, somatic 607341 3
Lymphangioleiomyomatosis, somatic 606690 3
Tuberous sclerosis-2 613254 AD 3
Search: 191092 191100 605284 613254 (Search in: MIM number)
Results: 4 entries.

1:
# 613254. TUBEROUS SCLEROSIS 2; TSC2
TSC2 ANGIOMYOLIPOMAS, RENAL, MODIFIER OF, INCLUDED
Cytogenetic locations: 12q15, 16p13.3
Matching terms: 613254

2:
# 191100. TUBEROUS SCLEROSIS 1; TSC1
Cytogenetic location: 9q34.13
Matching terms: 191100

3:
* 605284. TSC COMPLEX SUBUNIT 1; TSC1
Cytogenetic location: 9q34.13, Genomic coordinates (GRCh38): 9:132,891,349-132,945,378
Matching terms: 605284

4:
* 191092. TSC COMPLEX SUBUNIT 2; TSC2
Cytogenetic location: 16p13.3, Genomic coordinates (GRCh38): 16:2,047,985-2,089,491
Matching terms: 191092