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GENE - TERM ANNOTATION REPORT

RGD ID: 734434
Species: Mus musculus
RGD Object: Gene
Symbol: Abcc6
Name: ATP-binding cassette, sub-family C (CFTR/MRP), member 6
Acc ID: DOID:2738
Term: pseudoxanthoma elasticum
Definition: An inherited disorder of connective tissue with extensive degeneration and calcification of ELASTIC TISSUE primarily in the skin, eye, and vasculature. At least two forms exist, autosomal recessive and autosomal dominant. This disorder is caused by mutations of one of the ATP-BINDING CASSETTE TRANSPORTERS. Patients are predisposed to MYOCARDIAL INFARCTION and GASTROINTESTINAL HEMORRHAGE.
Definition Source(s): MESH:D011561, http://en.wikipedia.org/wiki/Pseudoxanthoma_elasticum, http://ghr.nlm.nih.gov/condition/pseudoxanthoma-elasticum, https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/253/viewAbstract
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
QualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
 IEA 13592920MouseDOOMIM:177850 , OMIM:264800

 
 IMP 11038737RGD  
 ISORGD:62026813792593RGD  
 ISORGD:7344337240710OMIM  
 ISORGD:7344338554872ClinVarClinVar Annotator: match by OMIM:264800

 
 ISORGD:7344338554872ClinVarClinVar Annotator: match by OMIM:264800

PMID:10835642
 ISORGD:7344338554872ClinVarClinVar Annotator: match by OMIM:264800

PMID:10835642, PMID:19904211
 ISORGD:7344338554872ClinVarClinVar Annotator: match by OMIM:264800

PMID:10954200, PMID:11179012, PMID:11439001, PMID:15086542, PMID:24033266
 ISORGD:7344338554872ClinVarClinVar Annotator: match by OMIM:264800

PMID:11179012
 ISORGD:7344338554872ClinVarClinVar Annotator: match by OMIM:264800

PMID:11179012, PMID:22209248
 ISORGD:7344338554872ClinVarClinVar Annotator: match by OMIM:264800

PMID:12384774
 ISORGD:7344338554872ClinVarClinVar Annotator: match by OMIM:264800

PMID:15086542
 ISORGD:7344338554872ClinVarClinVar Annotator: match by OMIM:264800

PMID:24033266
 ISORGD:7344338554872ClinVarClinVar Annotator: match by term: Pseudoxanthoma elasticum

PMID:10811882, PMID:11474653, PMID:11536079
 ISORGD:7344338554872ClinVarClinVar Annotator: match by term: Pseudoxanthoma elasticum

PMID:10811882, PMID:11493310, PMID:25741868
 ISORGD:7344338554872ClinVarClinVar Annotator: match by term: Pseudoxanthoma elasticum

PMID:10811882, PMID:28102862
 ISORGD:7344338554872ClinVarClinVar Annotator: match by term: Pseudoxanthoma elasticum

PMID:10835643, PMID:15098239, PMID:24033266
 ISORGD:7344338554872ClinVarClinVar Annotator: match by term: Pseudoxanthoma elasticum

PMID:10835643, PMID:16541094
 ISORGD:7344338554872ClinVarClinVar Annotator: match by term: Pseudoxanthoma elasticum

PMID:11427982
 ISORGD:7344338554872ClinVarClinVar Annotator: match by term: Pseudoxanthoma elasticum

PMID:11439001
 ISORGD:7344338554872ClinVarClinVar Annotator: match by term: Pseudoxanthoma elasticum

PMID:11439001, PMID:16086317, PMID:22209248, PMID:24088041, PMID:26633545
 ISORGD:7344338554872ClinVarClinVar Annotator: match by term: Pseudoxanthoma elasticum

PMID:11536079
 ISORGD:7344338554872ClinVarClinVar Annotator: match by term: Pseudoxanthoma elasticum

PMID:11536079, PMID:11702217, PMID:14631379, PMID:15086542, PMID:16086317, PMID:16410789, PMID:16835894, PMID:17617515, PMID:22209248, PMID:24033266, PMID:25741868
 ISORGD:7344338554872ClinVarClinVar Annotator: match by term: Pseudoxanthoma elasticum

PMID:11536079, PMID:11880368, PMID:12384774
 ISORGD:7344338554872ClinVarClinVar Annotator: match by term: Pseudoxanthoma elasticum

PMID:11536079, PMID:12384774, PMID:16086317, PMID:20034067
 ISORGD:7344338554872ClinVarClinVar Annotator: match by term: Pseudoxanthoma elasticum

PMID:11536079, PMID:17617515, PMID:25741868
 ISORGD:7344338554872ClinVarClinVar Annotator: match by term: Pseudoxanthoma elasticum

PMID:11536079, PMID:19726431, PMID:24088041, PMID:26633545
 ISORGD:7344338554872ClinVarClinVar Annotator: match by term: Pseudoxanthoma elasticum

PMID:11536079, PMID:24033266
 ISORGD:7344338554872ClinVarClinVar Annotator: match by term: Pseudoxanthoma elasticum

PMID:11536079, PMID:28041643
 ISORGD:7344338554872ClinVarClinVar Annotator: match by term: Pseudoxanthoma elasticum

PMID:11536079, PMID:28102862
 ISORGD:7344338554872ClinVarClinVar Annotator: match by term: Pseudoxanthoma elasticum

PMID:11692167
 ISORGD:7344338554872ClinVarClinVar Annotator: match by term: Pseudoxanthoma elasticum

PMID:11702217
 ISORGD:7344338554872ClinVarClinVar Annotator: match by term: Pseudoxanthoma elasticum

PMID:11880368, PMID:12384774, PMID:25741868
 ISORGD:7344338554872ClinVarClinVar Annotator: match by term: Pseudoxanthoma elasticum

PMID:12673275
 ISORGD:7344338554872ClinVarClinVar Annotator: match by term: Pseudoxanthoma elasticum

PMID:12673275, PMID:15086542, PMID:28041643
 ISORGD:7344338554872ClinVarClinVar Annotator: match by term: Pseudoxanthoma elasticum

PMID:12928920
 ISORGD:7344338554872ClinVarClinVar Annotator: match by term: Pseudoxanthoma elasticum

PMID:15184964
 ISORGD:7344338554872ClinVarClinVar Annotator: match by term: Pseudoxanthoma elasticum

PMID:15459974
 ISORGD:7344338554872ClinVarClinVar Annotator: match by term: Pseudoxanthoma elasticum

PMID:15645653
 ISORGD:7344338554872ClinVarClinVar Annotator: match by term: Pseudoxanthoma elasticum

PMID:15723264
 ISORGD:7344338554872ClinVarClinVar Annotator: match by term: Pseudoxanthoma elasticum

PMID:15727254
 ISORGD:7344338554872ClinVarClinVar Annotator: match by term: Pseudoxanthoma elasticum

PMID:15894595
 ISORGD:7344338554872ClinVarClinVar Annotator: match by term: Pseudoxanthoma elasticum

PMID:16086317
 ISORGD:7344338554872ClinVarClinVar Annotator: match by term: Pseudoxanthoma elasticum

PMID:16086317, PMID:17617515
 ISORGD:7344338554872ClinVarClinVar Annotator: match by term: Pseudoxanthoma elasticum

PMID:16086762
 ISORGD:7344338554872ClinVarClinVar Annotator: match by term: Pseudoxanthoma elasticum

PMID:16127278
 ISORGD:7344338554872ClinVarClinVar Annotator: match by term: Pseudoxanthoma elasticum

PMID:16127278, PMID:25741868
 ISORGD:7344338554872ClinVarClinVar Annotator: match by term: Pseudoxanthoma elasticum

PMID:16392638
 ISORGD:7344338554872ClinVarClinVar Annotator: match by term: Pseudoxanthoma elasticum

PMID:16410789
 ISORGD:7344338554872ClinVarClinVar Annotator: match by term: Pseudoxanthoma elasticum

PMID:16541094
 ISORGD:7344338554872ClinVarClinVar Annotator: match by term: Pseudoxanthoma elasticum

PMID:16543900
 ISORGD:7344338554872ClinVarClinVar Annotator: match by term: Pseudoxanthoma elasticum

PMID:16573612, PMID:22209248, PMID:25741868, PMID:28102862
 ISORGD:7344338554872ClinVarClinVar Annotator: match by term: Pseudoxanthoma elasticum

PMID:16835894
 ISORGD:7344338554872ClinVarClinVar Annotator: match by term: Pseudoxanthoma elasticum

PMID:17617515
 ISORGD:7344338554872ClinVarClinVar Annotator: match by term: Pseudoxanthoma elasticum

PMID:17724214
 ISORGD:7344338554872ClinVarClinVar Annotator: match by term: Pseudoxanthoma elasticum

PMID:17823974
 ISORGD:7344338554872ClinVarClinVar Annotator: match by term: Pseudoxanthoma elasticum

PMID:18157818
 ISORGD:7344338554872ClinVarClinVar Annotator: match by term: Pseudoxanthoma elasticum

PMID:18253096
 ISORGD:7344338554872ClinVarClinVar Annotator: match by term: Pseudoxanthoma elasticum

PMID:20034067, PMID:25264593
 ISORGD:7344338554872ClinVarClinVar Annotator: match by term: Pseudoxanthoma elasticum

PMID:20801516
 ISORGD:7344338554872ClinVarClinVar Annotator: match by term: Pseudoxanthoma elasticum

PMID:22209248, PMID:28102862
 ISORGD:7344338554872ClinVarClinVar Annotator: match by term: Pseudoxanthoma elasticum

PMID:24008425
 ISORGD:7344338554872ClinVarClinVar Annotator: match by term: Pseudoxanthoma elasticum

PMID:24727260
 ISORGD:7344338554872ClinVarClinVar Annotator: match by term: Pseudoxanthoma elasticum

PMID:25264593
 ISORGD:7344338554872ClinVarClinVar Annotator: match by term: Pseudoxanthoma elasticum

PMID:25741868, PMID:31240106
 ISORGD:7344338554872ClinVarClinVar Annotator: match by term: Pseudoxanthoma elasticum

PMID:26029710
 ISORGD:7344338554872ClinVarClinVar Annotator: match by term: Pseudoxanthoma elasticum

PMID:26084751
 ISORGD:7344338554872ClinVarClinVar Annotator: match by term: Pseudoxanthoma elasticum, forme fruste

PMID:10811882, PMID:12176944, PMID:12384774, PMID:12714611, PMID:16541094, PMID:18800149, PMID:22209248, PMID:25741868, PMID:28102862
 ISORGD:7344338554872ClinVarClinVar Annotator: match by term: Pseudoxanthoma elasticum, forme fruste

PMID:25741868
 ISORGD:73443311038778RGDDNA:mutations:exon, intron:multiple

 
 ISORGD:73443311038779RGDDNA:mutations: :multiple

 
 ISORGD:73443311038781RGDDNA:mutations:exon, intron:multiple

 
 ISORGD:73443311038782RGDDNA:nonsense mutation:exon:p.R1141X (3421C>T) (human)

 
 ISORGD:73443311038785RGDDNA:nonsense mutation:exon:p.Q378X (1132C>T) (human)

 
 ISORGD:73443311038786RGDDNA:mutations:multiple

 
 ISORGD:73443311554173CTDCTD Direct Evidence: marker/mechanism

PMID:11880368, PMID:12069597, PMID:14667841, PMID:16571645, PMID:17045963, PMID:18049453, PMID:23415960, PMID:25758222
no_associationISORGD:73443311038786RGDDNA:SNPs:promoter:c.-127C>T, c.-132C>T (human)

 
susceptibilityISORGD:734433737772RGD  
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.