Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 731
Gene Symbol: C8A
C8A
0.300 Biomarker group CTD_human Genetic basis of human complement C8 alpha-gamma deficiency. 9759902 1998
Entrez Id: 1675
Gene Symbol: CFD
CFD
0.300 Biomarker group CTD_human A family with complement factor D deficiency. 11457876 2001
Entrez Id: 10125
Gene Symbol: RASGRP1
RASGRP1
0.300 Biomarker group GENOMICS_ENGLAND RASGRP1 deficiency causes immunodeficiency with impaired cytoskeletal dynamics. 27776107 2016
Entrez Id: 641
Gene Symbol: BLM
BLM
0.300 Biomarker group GENOMICS_ENGLAND Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry. 17407155 2007
Entrez Id: 735
Gene Symbol: C9
C9
0.300 Biomarker group CTD_human A non-sense mutation at Arg95 is predominant in complement 9 deficiency in Japanese. 9570574 1998
Entrez Id: 718
Gene Symbol: C3
C3
0.300 Biomarker group CTD_human Homozygous hereditary C3 deficiency due to a partial gene deletion. 1350678 1992
Entrez Id: 51594
Gene Symbol: NBAS
NBAS
0.300 Biomarker group GENOMICS_ENGLAND Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta. 27789416 2017
Entrez Id: 3953
Gene Symbol: LEPR
LEPR
0.300 Biomarker group CTD_human Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor. 17229951 2007
Entrez Id: 720
Gene Symbol: C4A
C4A
0.300 Biomarker group CTD_human Genetic basis of human complement C4A deficiency. Detection of a point mutation leading to nonexpression. 8473511 1993
Entrez Id: 3075
Gene Symbol: CFH
CFH
0.300 Biomarker group CTD_human Heterozygous and homozygous factor h deficiencies associated with hemolytic uremic syndrome or membranoproliferative glomerulonephritis: report and genetic analysis of 16 cases. 14978182 2004
Entrez Id: 735
Gene Symbol: C9
C9
0.300 Biomarker group CTD_human Hereditary complement (C9) deficiency associated with dermatomyositis. 11359403 2001
Entrez Id: 114803
Gene Symbol: MYSM1
MYSM1
0.300 Biomarker group GENOMICS_ENGLAND Deubiquitinase MYSM1 Regulates Innate Immunity through Inactivation of TRAF3 and TRAF6 Complexes. 26474655 2015
Entrez Id: 713
Gene Symbol: C1QB
C1QB
0.300 Biomarker group CTD_human A homozygous point mutation results in a stop codon in the C1q B-chain of a C1q-deficient individual. 2894352 1988
Entrez Id: 732
Gene Symbol: C8B
C8B
0.300 Biomarker group CTD_human Genetic basis of human complement C8 beta deficiency. 8098723 1993
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
0.300 Biomarker group CTD_human Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. 15454078 2004
Entrez Id: 727
Gene Symbol: C5
C5
0.300 Biomarker group CTD_human Inherited human complement C5 deficiency. Nonsense mutations in exons 1 (Gln1 to Stop) and 36 (Arg1458 to Stop) and compound heterozygosity in three African-American families. 7730648 1995
Entrez Id: 1675
Gene Symbol: CFD
CFD
0.300 Biomarker group CTD_human Deficient alternative complement pathway activation due to factor D deficiency by 2 novel mutations in the complement factor D gene in a family with meningococcal infections. 16527897 2006
Entrez Id: 84061
Gene Symbol: MAGT1
MAGT1
0.300 Biomarker group HPO
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
0.300 Biomarker group GENOMICS_ENGLAND Successful cord blood transplantation for a CHARGE syndrome with CHD7 mutation showing DiGeorge sequence including hypoparathyroidism. 20052490 2010
Entrez Id: 84061
Gene Symbol: MAGT1
MAGT1
0.300 Biomarker group MGD Cutting Edge: Imbalanced Cation Homeostasis in MAGT1-Deficient B Cells Dysregulates B Cell Development and Signaling in Mice. 29581357 2018
Entrez Id: 5897
Gene Symbol: RAG2
RAG2
0.200 Biomarker group BEFREE Here, hMSC were differentiated into hepatocyte-like cells in vitro (hMSC-HC) and transplanted into livers of immunodeficient Pfp/Rag2⁻/⁻ mice treated with a sublethal dose of acetaminophen (APAP) to induce acute liver injury. 24758938 2014
Entrez Id: 5897
Gene Symbol: RAG2
RAG2
0.200 Biomarker group BEFREE To establish a model for adoptive transfer of endothelial cells, we transferred human umbilical vein endothelial cells (HUVECs) to immunodeficient mice (Rag 2(-/-)). 12000715 2002
Entrez Id: 5897
Gene Symbol: RAG2
RAG2
0.200 Biomarker group BEFREE Adoptive transfer of naive TCR-5/4E8-Tg cells induced arthritis with severe clinical symptoms in syngeneic immunodeficient BALB/c.RAG2(-/-) mice. 16257179 2005
Entrez Id: 5897
Gene Symbol: RAG2
RAG2
0.200 Biomarker group BEFREE Experimental intranasal infection of Rag2-immunodeficient mice with these isolates led to severe brain pathologies, and viable trophozoites were isolated from the nasal mucosa, brain tissue, and lungs post mortem. 20036656 2010
Entrez Id: 5897
Gene Symbol: RAG2
RAG2
0.200 Biomarker group BEFREE Comparison studies were carried out in 1-month-old (clinical onset of the disease) and 7-month-old control mice (C57Bl/6J, Rag2/γc-null) and immunocompetent and immunodeficient dystrophic mice (Sgcb-null and Sgcb/Rag2/γc-null, respectively). 29476695 2018