Elliptocytosis

Disease Term Disease ID Gene Symbol Classification References Source
Elliptocytosis 1 C2678497 EPB41 Causal Pathogenic evidence from ClinVar 1430200, 3134067 ClinVar
Elliptocytosis, Hereditary C0013902 EPB41 Causal Pathogenic evidence from ClinVar 1430200, 3134067, 23664421 ClinVar
SPTA1 Causal Pathogenic evidence from ClinVar 23664421 ClinVar
SPTB Causal Pathogenic evidence from ClinVar 1975598, 8226774, 23664421, 27906107 ClinVar
ACSL4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
AMMECR1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
EPB42 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 1558976, 7772513 -
GATA1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
GYPC Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 1884026, 8353290 -
KCNE5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
NHLRC2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SLC4A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 1737855, 9600966 -
TRNT1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ELLIPTOCYTOSIS 2 (disorder) C1851741 SPTA1 Causal Pathogenic evidence from ClinVar 1541680, 1638030, 1679439, 1878597, 2384601, 2568861, 2568862, 2794061, 7772539, 8018926, 8193371, 8364215, 8941647 ClinVar
ELLIPTOCYTOSIS 3 C1866810 SPTB Causal Pathogenic evidence from ClinVar 1975598, 7883966, 8018926, 8226774 ClinVar
Elliptocytosis 4 C1862324 SLC4A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23339107, 23664421 -