Sotos` syndrome

Disease Term Disease ID Gene Symbol Classification References Source
Sotos syndrome 821 NSD1 Causal Pathogenic evidence from ClinVar - ClinVar
APC2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SETD2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SOTOS SYNDROME 1 C4551477 NSD1 Causal Pathogenic evidence from ClinVar 11896389, 12464997, 12807965, 14627693, 14997421, 15742365, 15942875, 16222665, 17565729, 26257172, 26633545, 26738611, 26896805, 26938784, 30719864 ClinVar
Sotos` syndrome C0175695 NSD1 Causal Pathogenic evidence from ClinVar 11896389, 12464997, 12525543, 12807965, 14517949, 14571271, 15452385, 15580547, 15640245, 15942875, 16188863, 16232326, 17561922, 18001468, 18505455, 20101679, 21196496, 21972110, 22926222, 23155469 ClinVar
APC2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 25753423 -
NRK Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21834033 -
SETD2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 24852293 -