Immunodeficiency

Disease Term Disease ID Gene Symbol Classification References Source
IMMUNODEFICIENCY 47 C4310819 ATP6AP1 Causal Pathogenic evidence from ClinVar 27231034, 29396028 ClinVar
IMMUNODEFICIENCY 37 C4015195 BCL10 Causal Pathogenic evidence from ClinVar 25365219 ClinVar
IMMUNODEFICIENCY 49 C4310656 BCL11B Causal Pathogenic evidence from ClinVar 27959755, 29985992 ClinVar
Immunodeficiency due to Defect in CD3-Zeta C1857798 CD247 Causal Pathogenic evidence from ClinVar 25688246 ClinVar
IMMUNODEFICIENCY 19 C3810147 CD3D Causal Pathogenic evidence from ClinVar 14602880, 15546002, 21883749, 21926461, 22039266, 23336327, 24290291, 25344390, 27807805 ClinVar
IMMUNODEFICIENCY 18 C3810127 CD3E Causal Pathogenic evidence from ClinVar 7937778, 8490660, 15546002 ClinVar
Immunodeficiency due to Defect in CD3-Epsilon C1861284 CD3E Causal Pathogenic evidence from ClinVar - ClinVar
Combined immunodeficiency due to CD3gamma deficiency 169082 CD3G Causal Pathogenic evidence from ClinVar - ClinVar
IMMUNODEFICIENCY 17 C3810107 CD3G Causal Pathogenic evidence from ClinVar 17277165, 24910257 ClinVar
IMMUNODEFICIENCY 44 C4225260 IFNAR2 Causal Pathogenic evidence from ClinVar 26424569 ClinVar
IMMUNODEFICIENCY 45 C4225252 IFNAR2 Causal Pathogenic evidence from ClinVar 26424569 ClinVar
IMMUNODEFICIENCY 27A C4011949 IFNGR1 Causal Pathogenic evidence from ClinVar 9389728, 9497247, 10811850, 11139207, 12712974, 15589309, 16195661, 16715106, 17514500, 19880337, 20015550, 20186794, 22708048, 25592983, 27868075, 28744922 ClinVar
IMMUNODEFICIENCY 27B C4014863 IFNGR1 Causal Pathogenic evidence from ClinVar 9497247 ClinVar
IMMUNODEFICIENCY 28 C4013947 IFNGR2 Causal Pathogenic evidence from ClinVar 10608793, 15924140, 22902943, 23963039, 30264912 ClinVar
IMMUNODEFICIENCY 15A C4748694 IKBKB Causal Pathogenic evidence from ClinVar 30337470 ClinVar
IMMUNODEFICIENCY 15B C4747743 IKBKB Causal Pathogenic evidence from ClinVar 24369075, 25216719 ClinVar
IMMUNODEFICIENCY 30 C4013949 IL12RB1 Causal Pathogenic evidence from ClinVar 9603733, 11424023, 12591909, 21057261, 21487897, 27141500 ClinVar
IMMUNODEFICIENCY 51 C4310803 IL17RA Causal Pathogenic evidence from ClinVar 27930337 ClinVar
Immunodeficiency due to CD25 deficiency 169100 IL2RA Causal Pathogenic evidence from ClinVar - ClinVar
Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency 70592 IRAK4 Causal Pathogenic evidence from ClinVar - ClinVar
IMMUNODEFICIENCY 39 C4225358 IRF7 Causal Pathogenic evidence from ClinVar 9315633, 25814066 ClinVar
IMMUNODEFICIENCY 32A C3808589 IRF8 Causal Pathogenic evidence from ClinVar 21524210, 22046141 ClinVar
IMMUNODEFICIENCY 32B C4016741 IRF8 Causal Pathogenic evidence from ClinVar 21524210, 22046141, 25122610, 27893462 ClinVar
Combined immunodeficiency due to LRBA deficiency 445018 LRBA Causal Pathogenic evidence from ClinVar - ClinVar
Combined immunodeficiency due to MALT1 deficiency 397964 MALT1 Causal Pathogenic evidence from ClinVar - ClinVar
IMMUNODEFICIENCY 12 C3809583 MALT1 Causal Pathogenic evidence from ClinVar 23727036, 24332264, 25627829 ClinVar
Combined immunodeficiency due to Moesin deficiency 504530 MSN Causal Pathogenic evidence from ClinVar - ClinVar
IMMUNODEFICIENCY 50 C4310812 MSN Causal Pathogenic evidence from ClinVar 27405666, 28378256, 29556235 ClinVar
IMMUNODEFICIENCY 23 C4014371 PGM3 Causal Pathogenic evidence from ClinVar 24589341, 24698316, 24931394, 25529582 ClinVar
IMMUNODEFICIENCY 36 C4014934 PIK3R1 Causal Pathogenic evidence from ClinVar 22351933, 23810378, 23810379, 23810382, 23980586, 24886349, 25133428, 25326637, 25488983, 26529633, 26974159, 27766312, 28632845, 29556229 ClinVar
Primary immune deficiency disorder C0398686 RAG1 Causal Pathogenic evidence from ClinVar 10891502, 12200379, 16960852, 19470080, 21131235, 22841008, 26457731 ClinVar
RIPK1 Causal Pathogenic evidence from ClinVar 30591564 ClinVar
IMMUNODEFICIENCY 53 C4539811 RELB Causal Pathogenic evidence from ClinVar 26385063 ClinVar
IMMUNODEFICIENCY 57 C4748212 RIPK1 Causal Pathogenic evidence from ClinVar 30026316 ClinVar
IMMUNODEFICIENCY 31A C4013950 STAT1 Causal Pathogenic evidence from ClinVar 11452125, 16934001, 21714643, 21727188, 22195034, 22573496, 22730530, 22847544, 23541320, 23709754, 24343863, 25367169, 26242301, 26255980, 26494717, 26604104, 26743090, 27114460, 28258222, 28597685, 29702748 ClinVar
IMMUNODEFICIENCY 31B C3151088 STAT1 Causal Pathogenic evidence from ClinVar 12590259, 20841510, 21714643, 21727188, 22195034, 22730530, 22847544, 23403048, 23534974, 23541320, 23709754, 24343863, 25367169, 26242301, 26255980, 26494717, 26604104, 26743090, 26938784, 27114460, 27117246, 28258222, 28597685, 29702748 ClinVar
BICRA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22174851 -
Severe T-cell immunodeficiency C4025208 STAT1 Causal Pathogenic evidence from ClinVar - ClinVar
Combined immunodeficiency due to OX40 deficiency 431149 TNFRSF4 Causal Pathogenic evidence from ClinVar - ClinVar
IMMUNODEFICIENCY 16 C3810053 TNFRSF4 Causal Pathogenic evidence from ClinVar 23897980 ClinVar
Tyrosine Kinase 2 Deficiency C1969086 TYK2 Causal Pathogenic evidence from ClinVar 17088085, 17521577, 22402565, 26304966 ClinVar
Immunodeficiency due to a classical component pathway complement deficiency 169147 C1QA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
C1QB Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
C1QC Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
C1R Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
C1S Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
C2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
C4A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
C4B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Immunodeficiency due to a late component of complement deficiency 169150 C5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -