Bernard soulier syndrome

Disease Term Disease ID Gene Symbol Classification References Source
Bernard-Soulier syndrome 274 GP1BA Causal Pathogenic evidence from ClinVar - ClinVar
GP1BB Causal Pathogenic evidence from ClinVar - ClinVar
GP9 Causal Pathogenic evidence from ClinVar - ClinVar
Bernard-Soulier Syndrome C0005129 GP1BA Causal Pathogenic evidence from ClinVar 1730088, 2308962, 7690774, 7819107, 7873390, 9639514, 10089893, 21357716, 22886561 ClinVar
GP1BB Causal Pathogenic evidence from ClinVar 3258770, 8089142, 9116284, 10887115, 12447957, 12693941, 12945881, 12958615, 15213102, 16409472, 16978236, 21357716, 22886561, 27148783, 28064200 ClinVar
GP9 Causal Pathogenic evidence from ClinVar 8049428, 8089142, 8481514, 9163595, 9432024, 9886312, 10583255, 11167791, 11758225, 12100158, 14510954, 15609295, 16916536, 21113250, 21173099, 21357716, 21699652, 22886561, 23143686, 23402648, 23995613, 25370924, 28650483, 31064749 ClinVar
CHRNE Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SEPTIN5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
BERNARD-SOULIER SYNDROME, TYPE A1 C3278148 GP1BA Causal Pathogenic evidence from ClinVar - ClinVar
CHRNE Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT C3277076 GP1BA Causal Pathogenic evidence from ClinVar 11222377 ClinVar
CHRNE Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Bernard-Soulier Syndrome, Type B C1856447 GP1BB Causal Pathogenic evidence from ClinVar - ClinVar
SEPTIN5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Bernard-Soulier Syndrome, Type C C1856448 GP9 Causal Pathogenic evidence from ClinVar - ClinVar