Disease Term Disease ID Gene Symbol Classification References Source
ICF syndrome 2268 CDCA7 Causal Pathogenic evidence from ClinVar - ClinVar
DNMT3B Causal Pathogenic evidence from ClinVar - ClinVar
HELLS Causal Pathogenic evidence from ClinVar - ClinVar
ZBTB24 Causal Pathogenic evidence from ClinVar - ClinVar
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 3 C4310799 CDCA7 Causal Pathogenic evidence from ClinVar 26216346 ClinVar
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 C4551557 DNMT3B Causal Pathogenic evidence from ClinVar 10555141, 10588719, 10647011, 11102980, 11919202, 15580563, 15952214, 17893117, 18029387, 18762900, 21120685, 27734333 ClinVar
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4 C4310798 HELLS Causal Pathogenic evidence from ClinVar 16395332, 26216346 ClinVar
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2 C3279748 ZBTB24 Causal Pathogenic evidence from ClinVar 21596365, 21906047, 23486536 ClinVar