Entry Search - 269921 603824 - OMIM
View Results as: Gene Map Table   Clinical Synopsis  

Search: '269921 603824 (Search in: MIM number)'
Results: 2 entries.

1:
* 603824. UDP-N-ACETYLGLUCOSAMINE 2-EPIMERASE/N-ACETYLMANNOSAMINE KINASE; GNE
Cytogenetic location: 9p13.3, Genomic coordinates (GRCh38): 9:36,214,441-36,276,978
Matching terms: 603824
 Gene-Phenotype Relationships   ICD+   Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
9p13.3 Nonaka myopathy 605820 AR 3
Sialuria 269921 AD 3
Thrombocytopenia 12 with or without myopathy 620757 AR 3
ICD+
SNOMEDCT: 238051008, 702382000

2:
# 269921. SIALURIA
Cytogenetic location: 9p13.3
Matching terms: 269921
 Phenotype-Gene Relationships   ICD+   Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
Gene/Locus Gene/Locus
MIM number
9p13.3 Sialuria 269921 AD 3 GNE 603824
ICD+
SNOMEDCT: 238051008, 34566007
ORPHA: 3166
DO: 3659
Search: 269921 603824 (Search in: MIM number)
Results: 2 entries.

1:
* 603824. UDP-N-ACETYLGLUCOSAMINE 2-EPIMERASE/N-ACETYLMANNOSAMINE KINASE; GNE
Cytogenetic location: 9p13.3, Genomic coordinates (GRCh38): 9:36,214,441-36,276,978
Matching terms: 603824

2:
# 269921. SIALURIA
Cytogenetic location: 9p13.3
Matching terms: 269921