Congenital neutropenia

Disease Term Disease ID Gene Symbol Classification References Source
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency 420702 CSF3R Causal Pathogenic evidence from ClinVar - ClinVar
Congenital neutropenia C0340970 CSF3R Causal Pathogenic evidence from ClinVar 19620628, 24753537 ClinVar
ELANE Causal Pathogenic evidence from ClinVar 28297620 ClinVar
G6PC3 Causal Pathogenic evidence from ClinVar 19118303, 20616219, 20717171 ClinVar
GFI1 Causal Pathogenic evidence from ClinVar - ClinVar
JAGN1 Causal Pathogenic evidence from ClinVar 25129144 ClinVar
AK2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CXCR4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12692554, 15536153 -
GATA2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 29724903 -
HAX1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
LAMTOR2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 28593997 -
RMRP Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11207361, 16832578 -
TCIRG1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 24753205 -
VPS45 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23599270 -
WAS Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16804117 -
NEUTROPENIA, SEVERE CONGENITAL, 7, AUTOSOMAL RECESSIVE C4310764 CSF3R Causal Pathogenic evidence from ClinVar 19620628, 24753537, 26324699 ClinVar
Autosomal dominant severe congenital neutropenia 486 ELANE Causal Pathogenic evidence from ClinVar - ClinVar
GFI1 Causal Pathogenic evidence from ClinVar - ClinVar
SRP54 Causal Pathogenic evidence from ClinVar - ClinVar
TCIRG1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency 331176 G6PC3 Causal Pathogenic evidence from ClinVar - ClinVar
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency 423384 JAGN1 Causal Pathogenic evidence from ClinVar - ClinVar
Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency 420699 CXCR2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -