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9 results
  1. ACVRL1 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/acvrl1
    ... risk of arteriovenous malformations. Other Names for This Gene activin A receptor type II-like 1 activin A receptor type IL Activin ... Diseases from OMIM ARTERIOVENOUS MALFORMATIONS OF THE BRAIN ACTIVIN A RECEPTOR, TYPE II-LIKE 1; ACVRL1 Gene and Variant Databases NCBI Gene ClinVar References Azuma ...
  2. BMPR1A gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/bmpr1a
    ... About This Health Condition Other Names for This Gene activin A receptor, type II-like kinase 3 ACVRLK3 ALK3 BMR1A_HUMAN bone morphogenetic protein receptor type IA bone morphogenetic protein receptor, type IA bone ... Catalog of Genes and Diseases from OMIM BONE MORPHOGENETIC PROTEIN RECEPTOR, ...
  3. ACVR1 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/acvr1
    ... uncontrollably, leading to cancer. Other Names for This Gene activin A receptor type I activin A receptor, type I activin A receptor, type II-like kinase 2 activin A type I receptor ...
  4. BMPR2 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/bmpr2
    ... Type II BMP serine/threonine kinase T-ALK type II activin receptor-like kinase Additional Information & Resources Tests Listed in the Genetic Testing Registry Tests of BMPR2 Scientific Articles on PubMed PubMed Catalog of Genes and Diseases from OMIM BONE MORPHOGENETIC PROTEIN RECEPTOR, ...
  5. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... threonine kinase</synonym><synonym >T-ALK</synonym><synonym >type II activin receptor-like kinase</synonym></synonym-list><db-key-list ><db-key ><db >NCBI Gene</db><key >659</key></db-key><db-key >< ...
  6. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... genetics/gene/actg2</url></topic><topic ><title >ACVR1: activin A receptor type 1</title><url >https://medlineplus.gov/genetics/gene/acvr1</url></topic><topic ><title >ACVRL1: activin A ...
  7. Loeys-Dietz Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1133
    ... a few nonsense variants have been described. Normal gene product . TGFBR1 encodes a protein of 503 amino acids (reference sequence NP_004603.1 ). TGFβ binds to three subtypes of cell surface receptors, known as the receptors type I, II, and III. Type I and II receptors are ...
  8. Genes 
    https://medlineplus.gov/genetics/gene
    ... 1 ACTG2 : actin gamma 2, smooth muscle ACVR1 : activin A receptor type 1 ACVRL1 : activin A receptor like type 1 ... AGPS : alkylglycerone phosphate synthase AGT : angiotensinogen AGTR1 : angiotensin II receptor type 1 AGXT : alanine--glyoxylate aminotransferase AHCY : adenosylhomocysteinase AHDC1 : ...
  9. Genetics of Colorectal Cancer (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK126744
    ... previously identified variants in the bone morphogenetic protein receptor type 1A ( BMPR1A ) gene in affected individuals from 2 of 18 families ... HHT will have a pathogenic variant in the activin receptor-like kinase 1 ( ALK1 ) gene or in the endoglin ( ENG ) gene, but SMAD4 ...