Immunodeficiency

Disease Term Disease ID Gene Symbol Classification References Source
Immunodeficiency due to a late component of complement deficiency 169150 C6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
C7 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
C8A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
C8B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
C8G Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
C9 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
IMMUNODEFICIENCY 11 C3554686 CARD11 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23374270, 23561803, 25352053 -
IMMUNODEFICIENCY 58 C4748304 CARMIL2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27647349, 27896283, 28112205, 29226302, 29479355 -
Immunodeficiency syndrome, variable C0398788 CDCA7 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 26216346 -
DNMT3B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10588719, 10647011, 11102980, 11741835, 16543361, 17893117, 23486536 -
HELLS Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16395332 -
IMMUNODEFICIENCY 8 C3809383 CORO1A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19097825, 23522482, 25073507 -
IMMUNODEFICIENCY 24 C4014617 CTPS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9536098, 24870241, 27638562 -
IMMUNODEFICIENCY 31B C3151088 CYP7B1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22174851 -
FRMPD1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 25786224 -
IMMUNODEFICIENCY 40 C4225328 DOCK2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 26083206, 29503648 -
IMMUNODEFICIENCY 23 C4014371 DOP1A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
IMMUNODEFICIENCY 20 C3810342 FCGR3A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 8608639, 8609432, 8874200, 23006327 -
Immunodeficiency due to ficolin3 deficiency 331190 FCN3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Severe T-cell immunodeficiency C4025208 FOXN1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
FRAS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
IMMUNODEFICIENCY 55 C4693356 GINS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 28414293 -
IMMUNODEFICIENCY 29 C4013948 IL12B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 24127073 -
Combined immunodeficiency due to IL21R deficiency 357329 IL21R Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
IMMUNODEFICIENCY 56 C3554687 IL21R Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12700598, 23440042 -
Immunodeficiency due to Defect in MAPBP-Interacting Protein C1835829 LAMTOR2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 28593997 -
Primary immunodeficiency syndrome due to p14 deficiency C4305256 LAMTOR2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 28593997 -
IMMUNODEFICIENCY 52 C4479588 LAT Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27242165, 27522155 -
IMMUNODEFICIENCY 22 C4014233 LCK Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11351273, 22985903 -
Immunodeficiency due to MASP-2 deficiency 331187 MASP2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES C4014833 PRKDC Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19075392, 19823081, 23722905 -
Primary immune deficiency disorder C0398686 RAG2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10891502, 11133745, 11313270, 12200379, 15025726, 16960852, 18463379, 19470080, 21131235, 21624848, 22841008, 23243423, 26457731 -
TCF3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 29114388 -
IMMUNODEFICIENCY 42 C4225266 RORC Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 26160376 -
IMMUNODEFICIENCY 44 C4225260 STAT2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23143594, 23391734, 26122121, 28087227 -
IMMUNODEFICIENCY 45 C4225252 STAT2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23391734 -
Combined immunodeficiency due to TFRC deficiency 476113 TFRC Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
IMMUNODEFICIENCY 46 C4225219 TFRC Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 26642240 -
IMMUNODEFICIENCY 13 C3809768 UNC119 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22184408 -
T-Lymphocytopenia, Idiopathic CD4-Positive C0206744 UNC119 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -