Disease Term Disease ID Gene Symbol Classification References Source
Genitopatellar syndrome 85201 KAT6B Causal Pathogenic evidence from ClinVar - ClinVar
Genitopatellar Syndrome C1853566 KAT6B Causal Pathogenic evidence from ClinVar 22077973, 22265014, 22265017, 25424711, 27031267, 28696035 ClinVar