Disease Term Disease ID Gene Symbol Classification References Source
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 C3280371 C19orf12 Causal Pathogenic evidence from ClinVar 20039086, 21981780, 22508347, 22584950, 22704260, 23166001, 23269600, 23278385, 23436634, 23494994, 23521069, 23857908, 24209434, 25592411, 26136767, 26187298, 26539891, 27604308, 28347615 ClinVar
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6 C3810230 COASY Causal Pathogenic evidence from ClinVar 24360804, 27021474, 28489334, 30089828 ClinVar
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 C3550973 WDR45 Causal Pathogenic evidence from ClinVar 22892189, 23176820, 23435086, 23687123, 24368176, 24621584, 25356899, 25592411, 25744623, 27604308, 28711740, 28932395, 29171013, 29981852, 30612247 ClinVar