Distal arthrogryposis

Disease Term Disease ID Gene Symbol Classification References Source
ARTHROGRYPOSIS, DISTAL, TYPE 1 C0220662 CNTNAP1 Causal Pathogenic evidence from ClinVar - ClinVar
MYBPC1 Causal Pathogenic evidence from ClinVar 20045868 ClinVar
MYH3 Causal Pathogenic evidence from ClinVar 23401156 ClinVar
TNNT3 Causal Pathogenic evidence from ClinVar 19142688, 23401156 ClinVar
TPM2 Causal Pathogenic evidence from ClinVar 11738357, 12592607, 17339586, 22084935, 23378224, 23401156, 23413262, 23678273, 23689010, 23886664, 24657080, 24692096, 26307083, 30285720 ClinVar
NALCN Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 25683120 -
TNNI2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23401156 -
Distal arthrogryposis type 5D 329457, C3554415 ECEL1 Causal Pathogenic evidence from ClinVar 23236030, 23261301, 23808592, 23829171, 30131190 ClinVar
Distal arthrogryposis syndrome C0265213 KLHL7 Causal Pathogenic evidence from ClinVar - ClinVar
MYBPC1 Causal Pathogenic evidence from ClinVar 22610851 ClinVar
MYH3 Causal Pathogenic evidence from ClinVar - ClinVar
PIEZO2 Causal Pathogenic evidence from ClinVar - ClinVar
RYR1 Causal Pathogenic evidence from ClinVar - ClinVar
TPM2 Causal Pathogenic evidence from ClinVar 23413262 ClinVar
ACADM Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ATAD1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CCDC47 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CHST14 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
FBN2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
FIG4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
GLI3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
LGI4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
MAGEL2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
MYH8 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SYNE1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
TNNI2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
USH2A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ARTHROGRYPOSIS, DISTAL, TYPE 1B C3280526 MYBPC1 Causal Pathogenic evidence from ClinVar 20045868, 22610851, 26661508 ClinVar
Distal arthrogryposis type 1 1146 MYBPC1 Causal Pathogenic evidence from ClinVar - ClinVar
MYH3 Causal Pathogenic evidence from ClinVar - ClinVar
TNNT3 Causal Pathogenic evidence from ClinVar - ClinVar
TPM2 Causal Pathogenic evidence from ClinVar - ClinVar
NALCN Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
TNNI2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -