View Results as: Gene Map Table   Clinical Synopsis  

Search: '164300 602279 (Search in: MIM number)'
Results: 2 entries.

1:
* 602279. POLYADENYLATE-BINDING PROTEIN, NUCLEAR, 1; PABPN1
Cytogenetic location: 14q11.2, Genomic coordinates (GRCh38): 14:23,321,457-23,326,163
Matching terms: 602279
 Gene-Phenotype Relationships   ICD+   Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
14q11.2 Oculopharyngeal muscular dystrophy 164300 AD 3
ICD+
SNOMEDCT: 77097004
ICD10CM: G71.09

2:
# 164300. OCULOPHARYNGEAL MUSCULAR DYSTROPHY 1; OPMD1
Cytogenetic location: 14q11.2
Matching terms: 164300
 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
14q11.2 Oculopharyngeal muscular dystrophy 164300 AD 3 PABPN1 602279
Oculopharyngeal muscular dystrophy - PS164300 - 2 Entries
Location Phenotype Inheritance Phenotype
mapping key
Phenotype
MIM number
Gene/Locus Gene/Locus
MIM number
7p15.2 Oculopharyngeal muscular dystrophy 2 AD 3 620460 HNRPA2B1 600124
14q11.2 Oculopharyngeal muscular dystrophy AD 3 164300 PABPN1 602279
ICD+
SNOMEDCT: 77097004
ICD10CM: G71.09
ORPHA: 270
DO: 11719
Search: 164300 602279 (Search in: MIM number)
Results: 2 entries.

1:
* 602279. POLYADENYLATE-BINDING PROTEIN, NUCLEAR, 1; PABPN1
Cytogenetic location: 14q11.2, Genomic coordinates (GRCh38): 14:23,321,457-23,326,163
Matching terms: 602279

2:
# 164300. OCULOPHARYNGEAL MUSCULAR DYSTROPHY 1; OPMD1
Cytogenetic location: 14q11.2
Matching terms: 164300