Marfan syndrome

Disease Term Disease ID Gene Symbol Classification References Source
Marfan Syndrome C0024796 FBN1 Causal Pathogenic evidence from ClinVar 952872, 1301946, 1569206, 1631074, 1852208, 2005308, 3495735, 4750422, 7611299, 7738200, 7744963, 7762551, 7778680, 7870075, 7896820, 7911051, 7951214, 7977366, 8004112, 8040326, 8071963, 8136837, 8281141, 8406497, 8504310, 8863159, 8882780, 8884270, 8941093, 9016526, 9101298, 9241263, 9254848, 9338581, 9399842, 9401003, 9452033, 9452085, 9837823, 10229672, 10364683, 10425041, 10441597, 10464652, 10486319, 10533071, 10612827, 10647894, 10694921, 10721679, 10756346, 10766875, 10874320, 10930463, 11139245, 11175294, 11251996, 11391655, 11453977, 11524736, 11700157, 11748851, 11780406, 11826022, 11829507, 11875032, 11933199, 12068374, 12161601, 12203992, 12402346, 12446365, 12511552, 12524050, 12651868, 12700307, 12938084, 14586646, 14695540, 15054843, 15161917, 15221638, 15235604, 15241795, 15254584, 15371449, 15733436, 15821637, 15983637, 16220557, 16222657, 16342915, 16476890, 16571647, 16596670, 16677079, 16765689, 16835936, 16905551, 16995940, 17027361, 17224687, 17253931, 17324963, 17418587, 17503327, 1762 ClinVar
LTBP2 Causal Pathogenic evidence from ClinVar 22539340 ClinVar
TGFBR1 Causal Pathogenic evidence from ClinVar - ClinVar
TGFBR2 Causal Pathogenic evidence from ClinVar 15235604 ClinVar
Marfan syndrome type 1 284963 FBN1 Causal Pathogenic evidence from ClinVar - ClinVar
Marfan Syndrome, Type I C4721845 FBN1 Causal Pathogenic evidence from ClinVar 15235604, 17657824, 18178469, 18212506, 19430350, 21909107, 22772368 ClinVar
TGFBR2 Causal Pathogenic evidence from ClinVar 15235604 ClinVar
Neonatal Marfan syndrome 284979, C4016054 FBN1 Causal Pathogenic evidence from ClinVar 20132243 ClinVar
Marfan syndrome type 2 284973 TGFBR2 Causal Pathogenic evidence from ClinVar - ClinVar
Marfan Syndrome type 2 C2931058 TGFBR2 Causal Pathogenic evidence from ClinVar - ClinVar
Mammary Carcinoma, Human C4704874 ABCB1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22311042 -
ABCC1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 25078270 -
ABCG2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10930538 -
ABL1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20234815 -
ACHE Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23063927 -
ACTA2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 25330770 -
ACVR1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23180569 -
ADAM10 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16583263 -
ADAM33 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 30226539 -
ADAMTS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23289900 -
ADAR Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 28188287 -
AFP Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 18497072 -
AGR2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20531310 -
AHR Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21515334, 22296396 -
AKAP12 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16298037 -
AKT1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20228224 -
AKT2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19075277 -
ALDOA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20562527 -
ALK Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 29915430 -
ALKBH8 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27811057 -
ANGPTL4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21489049 -
ANKRD34A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 29915430 -
APC2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 18507500 -
APOBEC3A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 24728294 -
APOBEC3B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23389445, 23852168, 24728294, 27643540 -
APRT Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17659439 -
AR Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21633166, 22174584 -
ARAF Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12432273 -
AREG Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11237771 -
ARF1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27517156 -
ARHGDIA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20562527 -
ARRDC3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 25038754 -
ARTN Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20305694 -
ATG10 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 29915430 -
ATM Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ATP6AP1L Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 29915430 -
ATP7B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11802810 -
AURKA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 18497064 -
Mammary Ductal Carcinoma C0021367 ATF4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 14604972 -