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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking Cc2d2a and Joubert syndrome 1 in Ictidomys tridecemlineatus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with CC2D2A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 228 RGD objects have been annotated to Joubert syndrome 1  (DOID:0110980)
  • 0 papers in RGD have been used to annotate Cc2d2a
  • Curation Notes: ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome
  • Original References(s): PMID:16199547 PMID:18950740 PMID:19777577 PMID:21068128 PMID:22241855 PMID:22425360 PMID:22995991 PMID:23012439 PMID:24033266 PMID:24360807 PMID:25525159 PMID:25741868 PMID:26092869 PMID:26467025 PMID:26477546 PMID:26485645 PMID:27081510 PMID:27082236 PMID:28492532 PMID:29165578


    • An association has been curated linking Cc2d2a and Joubert syndrome 1 in Ictidomys tridecemlineatus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with CC2D2A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 228 RGD objects have been annotated to Joubert syndrome 1  (DOID:0110980)
  • 0 papers in RGD have been used to annotate Cc2d2a
  • Curation Notes: ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome
  • Original References(s): PMID:16199547 PMID:17576681 PMID:18414213 PMID:18513680 PMID:18950740 PMID:19466712 PMID:19574260 PMID:19763152 PMID:19777577 PMID:20307669 PMID:21068128 PMID:21370303 PMID:21866095 PMID:22241855 PMID:22246503 PMID:22406018 PMID:22425360 PMID:22995991 PMID:23012439 PMID:23351400 PMID:23692786 PMID:24033266 PMID:24360807 PMID:24706459 PMID:25525159 PMID:25741868 PMID:25741914 PMID:26003401 PMID:26062849 PMID:26092869 PMID:26310553 PMID:26467025 PMID:26477546 PMID:26485645 PMID:26633542 PMID:26673778 PMID:26729329 PMID:26862157 PMID:27081510 PMID:27082236 PMID:27848944 PMID:27894351 PMID:27959436 PMID:28125082 PMID:28492532 PMID:28497568 PMID:28518168 PMID:29039169 PMID:29146704 PMID:29620724 PMID:29987673 PMID:30055837 PMID:30091983 PMID:30202406 PMID:30267408 PMID:31130284 PMID:31577543 PMID:31618753 PMID:31680349 PMID:31738409 PMID:31964843 PMID:32165824 PMID:32461654 PMID:32488064 PMID:33486889 PMID:33502066 PMID:34182252 PMID:34194672 PMID:34645488 PMID:34821546 PMID:34906502 PMID:35858853 PMID:3631907 PMID:8253763 PMID:9536098


    • An association has been curated linking Cc2d2a and Joubert syndrome 1 in Ictidomys tridecemlineatus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with CC2D2A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 228 RGD objects have been annotated to Joubert syndrome 1  (DOID:0110980)
  • 0 papers in RGD have been used to annotate Cc2d2a
  • Curation Notes: ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome
  • Original References(s): PMID:16199547 PMID:17576681 PMID:18414213 PMID:18513680 PMID:18950740 PMID:19466712 PMID:19574260 PMID:19777577 PMID:21068128 PMID:21370303 PMID:21866095 PMID:22241855 PMID:22246503 PMID:22425360 PMID:22995991 PMID:23012439 PMID:23351400 PMID:23692786 PMID:24033266 PMID:24360807 PMID:24706459 PMID:25525159 PMID:25741868 PMID:26092869 PMID:26310553 PMID:26467025 PMID:26477546 PMID:26485645 PMID:26673778 PMID:26729329 PMID:26862157 PMID:27081510 PMID:27082236 PMID:27848944 PMID:27894351 PMID:28492532 PMID:29165578 PMID:29620724 PMID:30267408 PMID:31680349 PMID:32165824 PMID:32488064 PMID:34906502 PMID:8253763 PMID:9536098


    • An association has been curated linking Cc2d2a and Joubert syndrome 1 in Ictidomys tridecemlineatus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with CC2D2A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 228 RGD objects have been annotated to Joubert syndrome 1  (DOID:0110980)
  • 0 papers in RGD have been used to annotate Cc2d2a
  • Curation Notes: ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1
  • Original References(s): PMID:16199547 PMID:17576681 PMID:18414213 PMID:18513680 PMID:18950740 PMID:19466712 PMID:19574260 PMID:19777577 PMID:21068128 PMID:21370303 PMID:21866095 PMID:22241855 PMID:22246503 PMID:22425360 PMID:22995991 PMID:23012439 PMID:23351400 PMID:23692786 PMID:24033266 PMID:24360807 PMID:24706459 PMID:25741868 PMID:26062849 PMID:26092869 PMID:26310553 PMID:26467025 PMID:26477546 PMID:26485645 PMID:26673778 PMID:26729329 PMID:26862157 PMID:27081510 PMID:27082236 PMID:27848944 PMID:27894351 PMID:27959436 PMID:28125082 PMID:28492532 PMID:28497568 PMID:28518168 PMID:29039169 PMID:29146704 PMID:29620724 PMID:30055837 PMID:30091983 PMID:30267408 PMID:31618753 PMID:31680349 PMID:31738409 PMID:32165824 PMID:32461654 PMID:32488064 PMID:34182252 PMID:34194672 PMID:34906502 PMID:8253763 PMID:9536098


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