Disease Term Disease ID Gene Symbol Classification References Source
Kufor-Rakeb syndrome 306674 ATP13A2 Causal Pathogenic evidence from ClinVar - ClinVar
KUFOR-RAKEB SYNDROME C1847640 ATP13A2 Causal Pathogenic evidence from ClinVar 2276817, 16964263, 17485642, 18413573, 20683840, 20853184, 21060012, 21542062, 21665991, 21696388, 22022275, 22166458, 22296644, 22388936, 22768177, 22847264, 26633545, 27165006, 28137957, 29859891 ClinVar