Entry Search - 116840 138945 162350 204200 204300 204500 256730 256731 600143 600722 601780 603539 606725 607042 607837 607998 608102 609055 610127 610513 610951 611124 611203 611725 611726 614706 - OMIM
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Search: '116840 138945 162350 204200 204300 204500 256730 256731 600143 600722 601780 603539 606725 607042 607837 607998 608102 609055 610127 610513 610951 611124 611203 611725 611726 614706 (Search in: MIM number)'
Results: 26 entries.
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1:
* 116840. CATHEPSIN D; CTSD
Cytogenetic location: 11p15.5, Genomic coordinates (GRCh38): 11:1,752,755-1,763,927
Matching terms: 116840
 Gene-Phenotype Relationships   ICD+   Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
11p15.5 Ceroid lipofuscinosis, neuronal, 10 610127 AR 3
ICD+
SNOMEDCT: 720830009

2:
* 606725. CLN6 TRANSMEMBRANE ER PROTEIN; CLN6
Cytogenetic location: 15q23, Genomic coordinates (GRCh38): 15:68,206,992-68,257,211
Matching terms: 606725
 Gene-Phenotype Relationships   Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
15q23 Ceroid lipofuscinosis, neuronal, 6A 601780 AR 3
Ceroid lipofuscinosis, neuronal, 6B (Kufs type) 204300 AR 3

4:
* 607837. CLN8 TRANSMEMBRANE ER AND ERGIC PROTEIN; CLN8
Cytogenetic location: 8p23.3, Genomic coordinates (GRCh38): 8:1,753,059-1,786,570
Matching terms: 607837
 Gene-Phenotype Relationships   ICD+   Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
8p23.3 Ceroid lipofuscinosis, neuronal, 8 600143 AR 3
Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant 610003 AR 3
ICD+
SNOMEDCT: 703526007

5:
* 607998. TRIPEPTIDYL PEPTIDASE I; TPP1
Cytogenetic location: 11p15.4, Genomic coordinates (GRCh38): 11:6,612,768-6,619,422
Matching terms: 607998
 Gene-Phenotype Relationships   ICD+   Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
11p15.4 Ceroid lipofuscinosis, neuronal, 2 204500 AR 3
Spinocerebellar ataxia, autosomal recessive 7 609270 AR 3
ICD+
SNOMEDCT: 785301002

7:
% 609055. CEROID LIPOFUSCINOSIS, NEURONAL, 9; CLN9
Matching terms: 609055
 Phenotypic Series   ICD+   Links 
Links
Gene Info
BioGPS
KEGG
NCBI Gene
Clinical Resources
Clinical Trials
Genetic Alliance
ICD+
DO: 0110733

8:
# 610127. CEROID LIPOFUSCINOSIS, NEURONAL, 10; CLN10
NEURONAL CEROID LIPOFUSCINOSIS, CONGENITAL, INCLUDED
Cytogenetic location: 11p15.5
Matching terms: 610127
 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
11p15.5 Ceroid lipofuscinosis, neuronal, 10 610127 AR 3 CTSD 116840
ICD+
SNOMEDCT: 720830009
ORPHA: 228337
DO: 0110725

9:
* 610513. ATPase 13A2; ATP13A2
Cytogenetic location: 1p36.13, Genomic coordinates (GRCh38): 1:16,985,958-17,011,928
Matching terms: 610513
 Gene-Phenotype Relationships   ICD+   Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
1p36.13 Kufor-Rakeb syndrome 606693 AR 3
Spastic paraplegia 78, autosomal recessive 617225 AR 3
ICD+
SNOMEDCT: 1177168007, 723992000

10:
# 610951. CEROID LIPOFUSCINOSIS, NEURONAL, 7; CLN7
Cytogenetic location: 4q28.2
Matching terms: 610951
 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
4q28.2 Ceroid lipofuscinosis, neuronal, 7 610951 AR 3 MFSD8 611124
ICD+
ORPHA: 228366
DO: 0110722

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Search: 116840 138945 162350 204200 204300 204500 256730 256731 600143 600722 601780 603539 606725 607042 607837 607998 608102 609055 610127 610513 610951 611124 611203 611725 611726 614706 (Search in: MIM number)
Results: 26 entries.

1:
* 116840. CATHEPSIN D; CTSD
Cytogenetic location: 11p15.5, Genomic coordinates (GRCh38): 11:1,752,755-1,763,927
Matching terms: 116840

2:
* 606725. CLN6 TRANSMEMBRANE ER PROTEIN; CLN6
Cytogenetic location: 15q23, Genomic coordinates (GRCh38): 15:68,206,992-68,257,211
Matching terms: 606725

3:
* 607042. CLN3 LYSOSOMAL/ENDOSOMAL TRANSMEMBRANE PROTEIN, BATTENIN; CLN3
Cytogenetic location: 16p12.1, Genomic coordinates (GRCh38): 16:28,466,653-28,492,082
Matching terms: 607042

4:
* 607837. CLN8 TRANSMEMBRANE ER AND ERGIC PROTEIN; CLN8
Cytogenetic location: 8p23.3, Genomic coordinates (GRCh38): 8:1,753,059-1,786,570
Matching terms: 607837

5:
* 607998. TRIPEPTIDYL PEPTIDASE I; TPP1
Cytogenetic location: 11p15.4, Genomic coordinates (GRCh38): 11:6,612,768-6,619,422
Matching terms: 607998

6:
* 608102. CLN5 INTRACELLULAR TRAFFICKING PROTEIN; CLN5
Cytogenetic location: 13q22.3, Genomic coordinates (GRCh38): 13:76,992,081-77,005,117
Matching terms: 608102

7:
% 609055. CEROID LIPOFUSCINOSIS, NEURONAL, 9; CLN9
Matching terms: 609055

8:
# 610127. CEROID LIPOFUSCINOSIS, NEURONAL, 10; CLN10
NEURONAL CEROID LIPOFUSCINOSIS, CONGENITAL, INCLUDED
Cytogenetic location: 11p15.5
Matching terms: 610127

9:
* 610513. ATPase 13A2; ATP13A2
Cytogenetic location: 1p36.13, Genomic coordinates (GRCh38): 1:16,985,958-17,011,928
Matching terms: 610513

10:
# 610951. CEROID LIPOFUSCINOSIS, NEURONAL, 7; CLN7
Cytogenetic location: 4q28.2
Matching terms: 610951