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GENE - TERM ANNOTATION REPORT

6 Annotations Found.

An association has been curated linking Atrx and X-linked mental retardation-hypotonic facies syndrome-1 in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Guerrini R, etal., Ann Neurol. 2000 Jan;47(1):117-21.
  • The annotation has been inferred from sequence orthology with ATRX (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 additional annotations were made from Guerrini R, etal., Ann Neurol. 2000 Jan;47(1):117-21.
  • 3 RGD objects have been annotated to X-linked mental retardation-hypotonic facies syndrome-1  (DOID:0080982)
  • 30 papers in RGD have been used to annotate Atrx
  • Curation Notes: DNA:nonsense mutation:exon:324C>T (p.R37X) (human)


    • An association has been curated linking Atrx and X-linked mental retardation-hypotonic facies syndrome-1 in Mus musculus.        

  • 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 ATRX (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to X-linked mental retardation-hypotonic facies syndrome-1  (DOID:0080982)
  • 30 papers in RGD have been used to annotate Atrx


    • An association has been curated linking Atrx and X-linked mental retardation-hypotonic facies syndrome-1 in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Villard L, etal., Nat Genet. 1996 Apr;12(4):359-60.
  • The annotation has been inferred from sequence orthology with ATRX (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Villard L, etal., Nat Genet. 1996 Apr;12(4):359-60.
  • 3 RGD objects have been annotated to X-linked mental retardation-hypotonic facies syndrome-1  (DOID:0080982)
  • 30 papers in RGD have been used to annotate Atrx
  • Curation Notes: DNA:missense mutation:exon:c.3868G>A (p.R1272Q) (human)


    • An association has been curated linking Atrx and X-linked mental retardation-hypotonic facies syndrome-1 in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Bouazzi H, etal., Indian J Med Res. 2016 Jan;143(1):43-8. doi: 10.4103/0971-5916.178589.
  • The annotation has been inferred from sequence orthology with ATRX (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 8 additional annotations were made from Bouazzi H, etal., Indian J Med Res. 2016 Jan;143(1):43-8. doi: 10.4103/0971-5916.178589.
  • 3 RGD objects have been annotated to X-linked mental retardation-hypotonic facies syndrome-1  (DOID:0080982)
  • 30 papers in RGD have been used to annotate Atrx
  • Curation Notes: DNA:mutation:exon:c. 6740A>C (p.H224P)(human)


    • An association has been curated linking Atrx and X-linked mental retardation-hypotonic facies syndrome-1 in Mus musculus.        

  • 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 ATRX (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to X-linked mental retardation-hypotonic facies syndrome-1  (DOID:0080982)
  • 30 papers in RGD have been used to annotate Atrx
  • Curation Notes: ClinVar Annotator: match by term: Carpenter-Waziri syndrome | ClinVar Annotator: match by term: HOLMES-GANG SYNDROME | ClinVar Annotator: match by term: Intellectual disability-hypotonic facies syndrome, X-linked | ClinVar Annotator: match by term: Smith Fineman Myers syndrome 1 | ClinVar Annotator: match by term: XLMR-HYPOTONIC FACIES SYNDROME
  • Original References(s): PMID:10398234 PMID:10398237 PMID:10632111 PMID:10995512 PMID:11050622 PMID:12116232 PMID:15508018 PMID:15591283 PMID:16125058 PMID:16813605 PMID:16955409 PMID:18409179 PMID:18414213 PMID:20500465 PMID:21267006 PMID:22995991 PMID:23681356 PMID:24082139 PMID:24289169 PMID:24327140 PMID:24690944 PMID:24728327 PMID:24805811 PMID:25167861 PMID:25326635 PMID:25326637 PMID:25590979 PMID:25741868 PMID:25936994 PMID:26350204 PMID:26467025 PMID:28027854 PMID:28293299 PMID:28371217 PMID:28492530 PMID:28492532 PMID:29304373 PMID:29602769 PMID:29706636 PMID:29910053 PMID:31130284 PMID:3239563 PMID:32595695 PMID:32712949 PMID:35709690 PMID:36292677 PMID:6682021 PMID:6711605 PMID:7697714 PMID:8630485 PMID:8968741 PMID:9244431 PMID:9326931


    • An association has been curated linking Atrx and X-linked mental retardation-hypotonic facies syndrome-1 in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with ATRX (Homo sapiens) [(EXP) inferred from experiment]
  • 3 RGD objects have been annotated to X-linked mental retardation-hypotonic facies syndrome-1  (DOID:0080982)
  • 30 papers in RGD have been used to annotate Atrx
  • Curation Notes: CTD Direct Evidence: marker/mechanism


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