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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking COL4A4 and autosomal recessive Alport syndrome in Canis lupus familiaris.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with COL4A4 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 RGD objects have been annotated to autosomal recessive Alport syndrome  (DOID:0110033)
  • 0 papers in RGD have been used to annotate COL4A4


  • An association has been curated linking COL4A4 and autosomal recessive Alport syndrome in Canis lupus familiaris.        

  • 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 COL4A4 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 RGD objects have been annotated to autosomal recessive Alport syndrome  (DOID:0110033)
  • 0 papers in RGD have been used to annotate COL4A4
  • Curation Notes: ClinVar Annotator: match by term: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Autosomal recessive Alport syndrome
  • Original References(s): PMID:11961012 PMID:12028435 PMID:12325029 PMID:12631110 PMID:12748344 PMID:14582039 PMID:15618242 PMID:15954103 PMID:16199547 PMID:16338941 PMID:17216251 PMID:17396119 PMID:17576681 PMID:19129241 PMID:19675380 PMID:20029656 PMID:20301386 PMID:21196518 PMID:21897443 PMID:22887978 PMID:23349334 PMID:23967202 PMID:24033266 PMID:24033287 PMID:24052634 PMID:24472419 PMID:24522496 PMID:24633401 PMID:24854265 PMID:25229338 PMID:25307543 PMID:25381091 PMID:25514610 PMID:25525159 PMID:25575550 PMID:25596306 PMID:25741868 PMID:25741905 PMID:25755845 PMID:26467025 PMID:26628290 PMID:26809805 PMID:26833262 PMID:26934356 PMID:27281700 PMID:27469977 PMID:27859054 PMID:28117080 PMID:28476686 PMID:28492532 PMID:28542346 PMID:28632965 PMID:28844315 PMID:28968992 PMID:29098738 PMID:29204651 PMID:29496980 PMID:29801666 PMID:29854973 PMID:29873249 PMID:29924831 PMID:30076350 PMID:30406062 PMID:30586318 PMID:30647093 PMID:30745910 PMID:30883042 PMID:30968591 PMID:31049720 PMID:31312213 PMID:31328266 PMID:31408864 PMID:31677115 PMID:31922066 PMID:32332277 PMID:32604935 PMID:32703181 PMID:32723786 PMID:32939031 PMID:33048202 PMID:33095447 PMID:33369211 PMID:33532864 PMID:33772369 PMID:33838161 PMID:33854215 PMID:34584596 PMID:34625929 PMID:34746741 PMID:34762194 PMID:35369551 PMID:35759000 PMID:36699462 PMID:7987396 PMID:8787673 PMID:9195222 PMID:9536098 PMID:9792860


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