Kabuki syndrome

Disease Term Disease ID Gene Symbol Classification References Source
Kabuki make-up syndrome C0796004 KDM6A Causal Pathogenic evidence from ClinVar 22197486 ClinVar
KMT2A Causal Pathogenic evidence from ClinVar 29255178 ClinVar
KMT2D Causal Pathogenic evidence from ClinVar 9247308, 15690368, 19625956, 20711175, 21280141, 21607748, 21658225, 21671394, 22126750, 23320472, 23535010, 23913813, 24633898, 24739679, 25142838, 25755104, 25972376, 26049589, 26300940, 26411453, 26512256, 26938784, 27302555, 27530281, 28295206, 28884922, 29255178, 29907798 ClinVar
RAP1A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 26280580 -
RAP1B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 26280580 -
Kabuki syndrome 2322 KDM6A Causal Pathogenic evidence from ClinVar - ClinVar
KMT2D Causal Pathogenic evidence from ClinVar - ClinVar
KABUKI SYNDROME 2 C3275495 KDM6A Causal Pathogenic evidence from ClinVar 22197486, 23076834, 23535010, 24664873, 25972376, 27302555, 29300383, 29907798 ClinVar