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1,068 results
  1. PKD1 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/pkd1
    ... PKD1 Gene and Variant Databases NCBI Gene ClinVar References Al-Bhalal L, Akhtar M. Molecular basis of autosomal dominant polycystic kidney disease. Adv Anat Pathol. 2005 May;12(3):126- ...
  2. PKD2 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/pkd2
    ... PKD2 Gene and Variant Databases NCBI Gene ClinVar References Al-Bhalal L, Akhtar M. Molecular basis of autosomal dominant polycystic kidney disease. Adv Anat Pathol. 2005 May;12(3):126- ...
  3. Pulmonary veno-occlusive disease: MedlinePlus Genetics 
    https://medlineplus.gov/.../pulmonary-veno-occlusive-disease
    ... VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD2 PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT; PVOD1 Scientific Articles on PubMed PubMed References Eyries M, Montani D, Girerd B, Perret C, ...
  4. Uromodulin-associated kidney disease: MedlinePlus Genetics 
    https://medlineplus.gov/.../uromodulin-associated-kidney-disease
    ... of Genes and Diseases from OMIM TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 1; ADTKD1 Scientific Articles on PubMed PubMed References Bleyer AJ, Hart TC. Genetic factors associated with ...
  5. Hereditary Distal Renal Tubular Acidosis - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK547595
    ... autosomal recessive dRTA are loss-of-function variants. Autosomal dominant disease-causing variants in SLC4A1 are dominant negative variants. References Literature Cited Alonso-Varela M, Gil-Peña H, ...
  6. Medullary cystic kidney disease type 1: MedlinePlus Genetics 
    https://medlineplus.gov/.../medullary-cystic-kidney-disease-type-1
    ... of Genes and Diseases from OMIM TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 2; ADTKD2 Scientific Articles on PubMed PubMed References Kirby A, Gnirke A, Jaffe DB, Baresova V, ...
  7. REN-related kidney disease: MedlinePlus Genetics 
    https://medlineplus.gov/.../condition/ren-related-kidney-disease
    ... of Genes and Diseases from OMIM TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 4; ADTKD4 Scientific Articles on PubMed PubMed References Beck BB, Trachtman H, Gitman M, Miller I, ...
  8. Craniometaphyseal dysplasia: MedlinePlus Genetics 
    https://medlineplus.gov/.../condition/craniometaphyseal-dysplasia
    ... Clinical Trials ClinicalTrials.gov Catalog of Genes and Diseases from OMIM CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; CMDD Scientific Articles on PubMed PubMed References Addison WN, Azari F, Sorensen ES, Kaartinen MT, ...
  9. Weissenbacher-Zweymüller syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/.../weissenbacher-zweymuller-syndrome
    ... for Rare Disorders (NORD) Catalog of Genes and Diseases from OMIM OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; OSMEDA Scientific Articles on PubMed PubMed References Chemke J, Carmi R, Galil A, Bar-Ziv ...
  10. Tumor necrosis factor receptor-associated periodic syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/...tor-receptor-associated-periodic-syndrome
    ... Clinical Trials ClinicalTrials.gov Catalog of Genes and Diseases from OMIM PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT; FPF Scientific Articles on PubMed PubMed References Aganna E, Hammond L, Hawkins PN, Aldea A, ...
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