Nephropathy with pretibial epidermolysis bullosa and deafness

Disease Term Disease ID Gene Symbol Classification References Source
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2 (disorder) C1857747 PLA2G6 Causal Pathogenic evidence from ClinVar 16783378, 18570303, 18799783, 29903433, 30772976 ClinVar
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7 C4693583 REPS1 Causal Pathogenic evidence from ClinVar 29395073 ClinVar
Nephropathy with Pretibial Epidermolysis Bullosa and Deafness C1836823 CD151 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15265795, 29138120 -
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8 C4693587 CRAT Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 29395073 -
Neurodegeneration with brain iron accumulation (NBIA) C2931845 PANK2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20629144 -
WDR45 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23435086 -