Disease Term Disease ID Gene Symbol Classification References Source
Von Willebrand disease, platelet type C1280798 GP1BA Causal Pathogenic evidence from ClinVar 2052556, 8384898, 8486780, 14521605, 21357716 ClinVar
CHRNE Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
von Willebrand Disease C0042974 VWF Causal Pathogenic evidence from ClinVar 1581215, 1673047, 1832934, 1906877, 1918030, 8486782, 8500791, 11325649, 15461624, 16221672, 16322474, 16953269, 16985174, 17190853, 17681836, 18449422, 18485763, 18712522, 18805962, 19566550, 20305138, 20409624, 21371195, 21393328, 21534937, 22102201, 22197721, 22875612, 23110044, 23335371, 23426949, 23636243, 24675615, 24712919, 26456374, 26986123, 27532107, 31064749 ClinVar
Von Willebrand disease type 1 166078 VWF Causal Pathogenic evidence from ClinVar - ClinVar
Von Willebrand disease type 2A 166084 VWF Causal Pathogenic evidence from ClinVar - ClinVar
Von Willebrand disease type 2B 166087 VWF Causal Pathogenic evidence from ClinVar - ClinVar
Von Willebrand disease type 2M 166090 VWF Causal Pathogenic evidence from ClinVar - ClinVar
von Willebrand disease type 2M C1282974 VWF Causal Pathogenic evidence from ClinVar - ClinVar
Von Willebrand disease type 2N 166093 VWF Causal Pathogenic evidence from ClinVar - ClinVar
Von Willebrand disease type 3 166096 VWF Causal Pathogenic evidence from ClinVar - ClinVar
von Willebrand Disease, Recessive Form C1848525 VWF Causal Pathogenic evidence from ClinVar 31064749 ClinVar
von Willebrand Disease, Type 1 C1264039 VWF Causal Pathogenic evidence from ClinVar 10887119, 11698279, 28971901 ClinVar
von Willebrand Disease, Type 2 C1264040 VWF Causal Pathogenic evidence from ClinVar 1409710, 1419803, 1419804, 1420817, 1429668, 1672694, 1673047, 1729889, 1761120, 1832934, 1906179, 2010538, 2011604, 2786201, 7620154, 7734373, 7789955, 8011991, 8123843, 8123844, 8338947, 8348943, 8376405, 8435341, 8486782, 8547152, 8622978, 12406074, 21592258, 28971901, 31064749 ClinVar
von Willebrand Disease, Type 2A C1282968 VWF Causal Pathogenic evidence from ClinVar - ClinVar
von Willebrand Disease, Type 2B C1282971 VWF Causal Pathogenic evidence from ClinVar - ClinVar
von Willebrand Disease, Type 2N C1282975 VWF Causal Pathogenic evidence from ClinVar - ClinVar
von Willebrand Disease, Type 3 C1264041 VWF Causal Pathogenic evidence from ClinVar 7989040, 8088787, 10887119, 28971901 ClinVar