Seckel syndrome

Disease Term Disease ID Gene Symbol Classification References Source
Seckel syndrome 808, C0265202 ATR Causal Pathogenic evidence from ClinVar 12640452 ClinVar
CEP152 Causal Pathogenic evidence from ClinVar 21131973 ClinVar
DNA2 Causal Pathogenic evidence from ClinVar - ClinVar
RBBP8 Causal Pathogenic evidence from ClinVar 21998596 ClinVar
TRAIP Causal Pathogenic evidence from ClinVar 26595769 ClinVar
ATRIP Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23144622 -
CDC6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22333897 -
CDT1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21358632 -
CENPE Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 24748105 -
CENPF Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 25564561 -
CENPJ Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20522431 -
DNMT3A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 29900417 -
GMNN Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 26637980 -
IGF1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 8857020 -
LIG4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11779494 -
ORC1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21358633 -
ORC4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21358632 -
ORC6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21358632 -
PCNT Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19643772 -
PLK4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 25320347, 25344692 -
WDR4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 29597095 -
XRCC4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 24389050 -
Seckel syndrome 1 C4551474 ATR Causal Pathogenic evidence from ClinVar 12640452 ClinVar
CEP152 Causal Pathogenic evidence from ClinVar 21131973 ClinVar
PCNT Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 18157127 -
SECKEL SYNDROME 5 C3151187 CEP152 Causal Pathogenic evidence from ClinVar 21131973 ClinVar
CENPJ Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SECKEL SYNDROME 6 C3553582 CEP63 Causal Pathogenic evidence from ClinVar 21983783, 26158450, 26400686 ClinVar
SECKEL SYNDROME 8 C3891452 DNA2 Causal Pathogenic evidence from ClinVar 24389050 ClinVar
SECKEL SYNDROME 7 C3553870 NIN Causal Pathogenic evidence from ClinVar 22933543, 23665482 ClinVar
SECKEL SYNDROME 10 C4310647 NSMCE2 Causal Pathogenic evidence from ClinVar 25105364 ClinVar
SECKEL SYNDROME 2 C1847572 RBBP8 Causal Pathogenic evidence from ClinVar 21998596, 24389050 ClinVar
PCNT Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 18174396 -
SECKEL SYNDROME 9 C4225212 TRAIP Causal Pathogenic evidence from ClinVar 26595769, 30914295 ClinVar
SECKEL SYNDROME 4 C3888212 CENPJ Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16900296, 20522431 -