Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 919
Gene Symbol: CD247
CD247
0.400 CausalMutation disease CLINVAR
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
0.120 Biomarker disease HPO
Entrez Id: 7518
Gene Symbol: XRCC4
XRCC4
0.120 Biomarker disease HPO
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
0.120 Biomarker disease HPO
Entrez Id: 57217
Gene Symbol: TTC7A
TTC7A
0.120 Biomarker disease HPO
Entrez Id: 64919
Gene Symbol: BCL11B
BCL11B
0.110 Biomarker disease HPO
Entrez Id: 6023
Gene Symbol: RMRP
RMRP
0.110 Biomarker disease HPO
Entrez Id: 11142
Gene Symbol: PKIG
PKIG
0.100 GeneticVariation disease CLINVAR
Entrez Id: 5238
Gene Symbol: PGM3
PGM3
0.100 Biomarker disease HPO
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
0.100 GeneticVariation disease CLINVAR
Entrez Id: 110806290
Gene Symbol: MYOCOS
MYOCOS
0.100 GeneticVariation disease CLINVAR
Entrez Id: 4653
Gene Symbol: MYOC
MYOC
0.100 GeneticVariation disease CLINVAR
Entrez Id: 5880
Gene Symbol: RAC2
RAC2
0.100 GeneticVariation disease CLINVAR
Entrez Id: 919
Gene Symbol: CD247
CD247
0.400 Biomarker disease GENOMICS_ENGLAND γδ T Lymphocytes in the Diagnosis of Human T Cell Receptor Immunodeficiencies. 25688246 2015
Entrez Id: 1822
Gene Symbol: ATN1
ATN1
0.100 GeneticVariation disease BEFREE <b>Abbreviations</b>: ADCC: antibody-dependent cellular cytotoxicity; ADCP: antibody-dependent cellular phagocytosis; CFSE: carboxyfluorescein succinimidyl ester; Fab: fragment antigen binding; Fc: fragment crystallizable; FcγR: Fcγ receptor; Ig: immunoglobulin; IND: investigational new drug; MDM⊘: monocyte-derived macrophage; NOD: non-obese diabetic; scFv: single chain fragment variable; SCID: severe combined immunodeficiency; SIRP: signal-regulatory protein. 31257988 2020
Entrez Id: 7157
Gene Symbol: TP53
TP53
0.030 Biomarker disease BEFREE Severe combined immunodeficiency (SCID) mice were implanted with ovarian cancer cell lines consisting of SK-OV-3 cells without the TP53 gene and KF cells with the TP53 gene. 10974636 2000
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
0.500 GeneticVariation disease BEFREE Severe combined immunodeficiency and microcephaly in siblings with hypomorphic mutations in DNA ligase IV. 16358361 2006
Entrez Id: 5328
Gene Symbol: PLAU
PLAU
0.040 Biomarker disease BEFREE Severe combined immunodeficiency mice transgenic for urokinase-type plasminogen activator (uPA/SCID), with the liver replaced for human hepatocytes, were inoculated with virions passed in mouse and recovered from culture supernatants. 17006908 2006
Entrez Id: 100
Gene Symbol: ADA
ADA
0.500 GeneticVariation disease BEFREE Severe combined immunodeficiency (SCID) due to deficiency of the purine metabolic enzyme adenosine deaminase (ADA) is a fatal childhood immunodeficiency disease. 2081198 1990
Entrez Id: 100
Gene Symbol: ADA
ADA
0.500 Biomarker disease BEFREE Severe combined immunodeficiency disease (SCID) with adenosine deaminase (ADA) deficiency is a genetic autosomic recessive disorder with profound impairment of T-cell function, invariably complicated by fatal infections. 2098297 1991
Entrez Id: 5896
Gene Symbol: RAG1
RAG1
0.700 GeneticVariation disease BEFREE Severe combined immunodeficiency (SCID) patients with an inactivating mutation in recombination activation gene 1 (RAG1) lack B and T cells due to the inability to rearrange immunoglobulin (Ig) and T-cell receptor (TCR) genes. 21617701 2011
Entrez Id: 6962
Gene Symbol: TRBV20OR9-2
TRBV20OR9-2
0.020 GeneticVariation disease BEFREE Severe combined immunodeficiency (SCID) patients with an inactivating mutation in recombination activation gene 1 (RAG1) lack B and T cells due to the inability to rearrange immunoglobulin (Ig) and T-cell receptor (TCR) genes. 21617701 2011
Entrez Id: 5979
Gene Symbol: RET
RET
0.010 GeneticVariation disease BEFREE SCID mouse experiments performed with chromosomally normal cell lines and without RET mutations suggest that presently unknown submicroscopic genomic changes are sufficient in MTC tumorigenesis. 22038905 2012
Entrez Id: 8809
Gene Symbol: IL18R1
IL18R1
0.080 GeneticVariation disease BEFREE Severe combined immunodeficiency (SCID) is most frequently caused by mutations in the cytokine receptor common gamma chain, CD132, encoded by the X-linked gene, IL2RG. 26076747 2015
Entrez Id: 10148
Gene Symbol: EBI3
EBI3
0.080 GeneticVariation disease BEFREE Severe combined immunodeficiency (SCID) is most frequently caused by mutations in the cytokine receptor common gamma chain, CD132, encoded by the X-linked gene, IL2RG. 26076747 2015