Arterial tortuosity syndrome

Disease Term Disease ID Gene Symbol Classification References Source
Arterial tortuosity syndrome 3342 SLC2A10 Causal Pathogenic evidence from ClinVar - ClinVar
ARTERIAL TORTUOSITY SYNDROME C1859726 SLC2A10 Causal Pathogenic evidence from ClinVar 14569121, 16550171, 17163528, 17935213, 18565096, 18774132, 18818946, 19622975, 19781076, 20547159, 22488877, 23410549, 23494979, 25373504, 26376865 ClinVar
NT5E Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SMAD3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
TGFB2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
TGFBR1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
TGFBR2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -