View Results as: Gene Map Table   Clinical Synopsis  

Search: '233400 600783 601119 601860 604544 606075 607435 614129 614926 615300 616138 617565 (Search in: MIM number)'
Results: 12 entries.
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2:
* 607435. ERA G-PROTEIN-LIKE 1; ERAL1
ERAL1B, INCLUDED
Cytogenetic location: 17q11.2, Genomic coordinates (GRCh38): 17:28,855,016-28,861,061
Matching terms: 607435
 Gene-Phenotype Relationships   Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
17q11.2 Perrault syndrome 6 617565 AR 3

4:
* 601860. 17-BETA-HYDROXYSTEROID DEHYDROGENASE IV; HSD17B4
Cytogenetic location: 5q23.1, Genomic coordinates (GRCh38): 5:119,452,497-119,542,332
Matching terms: 601860
 Gene-Phenotype Relationships   ICD+   Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
5q23.1 D-bifunctional protein deficiency 261515 AR 3
Perrault syndrome 1 233400 AR 3
ICD+
SNOMEDCT: 238068007

5:
* 604544. LEUCYL-tRNA SYNTHETASE 2; LARS2
Cytogenetic location: 3p21.31, Genomic coordinates (GRCh38): 3:45,388,576-45,549,407
Matching terms: 604544
 Gene-Phenotype Relationships   ICD+   Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
3p21.31 Hydrops, lactic acidosis, and sideroblastic anemia 617021 AR 3
Perrault syndrome 4 615300 AR 3
ICD+
SNOMEDCT: 1237349008

6:
* 606075. TWINKLE mtDNA HELICASE; TWNK
TWINKY, INCLUDED
Cytogenetic location: 10q24.31, Genomic coordinates (GRCh38): 10:100,987,543-100,994,403
Matching terms: 606075
 Gene-Phenotype Relationships   ICD+   Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
10q24.31 Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) 271245 AR 3
Perrault syndrome 5 616138 AR 3
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 609286 AD 3
ICD+
SNOMEDCT: 724227000

7:
# 233400. PERRAULT SYNDROME 1; PRLTS1
Cytogenetic location: 5q23.1
Matching terms: 233400
 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
5q23.1 Perrault syndrome 1 233400 AR 3 HSD17B4 601860
ICD+
SNOMEDCT: 93466004
ORPHA: 2855
DO: 0050857

8:
# 614129. PERRAULT SYNDROME 3; PRLTS3
Cytogenetic location: 19p13.3
Matching terms: 614129
 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
19p13.3 Perrault syndrome 3 614129 AR 3 CLPP 601119
ICD+
ORPHA: 2855
DO: 0050857

9:
# 614926. PERRAULT SYNDROME 2; PRLTS2
Cytogenetic location: 5q31.3
Matching terms: 614926
 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
5q31.3 Perrault syndrome 2 614926 AR 3 HARS2 600783
ICD+
ORPHA: 2855
DO: 0050857

10:
# 615300. PERRAULT SYNDROME 4; PRLTS4
Cytogenetic location: 3p21.31
Matching terms: 615300
 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
3p21.31 Perrault syndrome 4 615300 AR 3 LARS2 604544
ICD+
ORPHA: 2855
DO: 0050857

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Search: 233400 600783 601119 601860 604544 606075 607435 614129 614926 615300 616138 617565 (Search in: MIM number)
Results: 12 entries.

1:
* 600783. HISTIDYL-tRNA SYNTHETASE 2; HARS2
Cytogenetic location: 5q31.3, Genomic coordinates (GRCh38): 5:140,691,455-140,699,305
Matching terms: 600783

2:
* 607435. ERA G-PROTEIN-LIKE 1; ERAL1
ERAL1B, INCLUDED
Cytogenetic location: 17q11.2, Genomic coordinates (GRCh38): 17:28,855,016-28,861,061
Matching terms: 607435

3:
* 601119. CASEINOLYTIC MITOCHONDRIAL MATRIX PEPTIDASE PROTEOLYTIC SUBUNIT; CLPP
Cytogenetic location: 19p13.3, Genomic coordinates (GRCh38): 19:6,361,531-6,370,242
Matching terms: 601119

4:
* 601860. 17-BETA-HYDROXYSTEROID DEHYDROGENASE IV; HSD17B4
Cytogenetic location: 5q23.1, Genomic coordinates (GRCh38): 5:119,452,497-119,542,332
Matching terms: 601860

5:
* 604544. LEUCYL-tRNA SYNTHETASE 2; LARS2
Cytogenetic location: 3p21.31, Genomic coordinates (GRCh38): 3:45,388,576-45,549,407
Matching terms: 604544

6:
* 606075. TWINKLE mtDNA HELICASE; TWNK
TWINKY, INCLUDED
Cytogenetic location: 10q24.31, Genomic coordinates (GRCh38): 10:100,987,543-100,994,403
Matching terms: 606075

7:
# 233400. PERRAULT SYNDROME 1; PRLTS1
Cytogenetic location: 5q23.1
Matching terms: 233400

8:
# 614129. PERRAULT SYNDROME 3; PRLTS3
Cytogenetic location: 19p13.3
Matching terms: 614129

9:
# 614926. PERRAULT SYNDROME 2; PRLTS2
Cytogenetic location: 5q31.3
Matching terms: 614926

10:
# 615300. PERRAULT SYNDROME 4; PRLTS4
Cytogenetic location: 3p21.31
Matching terms: 615300