Entry Search - 205400 600046 - OMIM
View Results as: Gene Map Table   Clinical Synopsis  

Search: '205400 600046 (Search in: MIM number)'
Results: 2 entries.

1:
* 600046. ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 1; ABCA1
Cytogenetic location: 9q31.1, Genomic coordinates (GRCh38): 9:104,781,006-104,928,155
Matching terms: 600046
 Gene-Phenotype Relationships   ICD+   Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
9q31.1 HDL deficiency, familial, 1 604091 AD 3
Tangier disease 205400 AR 3
ICD+
SNOMEDCT: 15346004, 723579009
ICD10CM: E78.6

2:
# 205400. TANGIER DISEASE; TGD
Cytogenetic location: 9q31.1
Matching terms: 205400
 Phenotype-Gene Relationships   ICD+   Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
Gene/Locus Gene/Locus
MIM number
9q31.1 Tangier disease 205400 AR 3 ABCA1 600046
ICD+
SNOMEDCT: 15346004, 723579009
ICD10CM: E78.6
ORPHA: 31150
DO: 1388
Search: 205400 600046 (Search in: MIM number)
Results: 2 entries.

1:
* 600046. ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 1; ABCA1
Cytogenetic location: 9q31.1, Genomic coordinates (GRCh38): 9:104,781,006-104,928,155
Matching terms: 600046

2:
# 205400. TANGIER DISEASE; TGD
Cytogenetic location: 9q31.1
Matching terms: 205400