Entity Name Entity type Gene Symbol Sources(; separated) Level4 Level3 Level2 Model_Of_Inheritance Phenotypes Omim Orphanet HPO Publications Description Flagged GEL_Status UserRatings_Green_amber_red version ready Mode of pathogenicity EnsemblId(GRch37) EnsemblId(GRch38) HGNC Position Chromosome Position GRCh37 Start Position GRCh37 End Position GRCh38 Start Position GRCh38 End STR Repeated Sequence STR Normal Repeats STR Pathogenic Repeats Region Haploinsufficiency Score Region Triplosensitivity Score Region Required Overlap Percentage Region Variant Type Region Verbose Name CYBB gene CYBB Literature Disseminated non-tuberculous mycobacterial infection Bacterial disorders Infectious diseases X-LINKED: hemizygous mutation in males, biallelic mutations in females 28539556 False 1 0;0;0 0.12 False ENSG00000165168 ENSG00000165168 HGNC:2578 GATA2 gene GATA2 Literature Disseminated non-tuberculous mycobacterial infection Bacterial disorders Infectious diseases MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 28539556 False 1 0;0;0 0.12 False ENSG00000179348 ENSG00000179348 HGNC:4171 IFNGR1 gene IFNGR1 Literature Disseminated non-tuberculous mycobacterial infection Bacterial disorders Infectious diseases Unknown Mendelian Susceptibility to Mycobacterial Diseases (MSMD) 26621750 False 1 100;0;0 0.12 False ENSG00000027697 ENSG00000027697 HGNC:5439 IFNGR2 gene IFNGR2 Literature Disseminated non-tuberculous mycobacterial infection Bacterial disorders Infectious diseases Unknown Mendelian Susceptibility to Mycobacterial Diseases (MSMD) 26621750 False 1 0;0;0 0.12 False ENSG00000159128 ENSG00000159128 HGNC:5440 IL12B gene IL12B Literature Disseminated non-tuberculous mycobacterial infection Bacterial disorders Infectious diseases BIALLELIC, autosomal or pseudoautosomal 28539556 False 1 0;0;0 0.12 False ENSG00000113302 ENSG00000113302 HGNC:5970 IL12RB1 gene IL12RB1 Literature Disseminated non-tuberculous mycobacterial infection Bacterial disorders Infectious diseases BIALLELIC, autosomal or pseudoautosomal massive intraabdominal lymphadenopathy due to Mycobacterium intracellulare 27996281 False 1 0;0;0 0.12 False ENSG00000096996 ENSG00000096996 HGNC:5971 IRF8 gene IRF8 Literature Disseminated non-tuberculous mycobacterial infection Bacterial disorders Infectious diseases BOTH monoallelic and biallelic, autosomal or pseudoautosomal 28539556 False 1 0;0;0 0.12 False ENSG00000140968 ENSG00000140968 HGNC:5358 ISG15 gene ISG15 Literature Disseminated non-tuberculous mycobacterial infection Bacterial disorders Infectious diseases BIALLELIC, autosomal or pseudoautosomal 28539556 False 1 0;0;0 0.12 False ENSG00000187608 ENSG00000187608 HGNC:4053 NLK gene NLK Literature Disseminated non-tuberculous mycobacterial infection Bacterial disorders Infectious diseases X-LINKED: hemizygous mutation in males, biallelic mutations in females 28539556 False 1 0;0;0 0.12 False ENSG00000087095 ENSG00000087095 HGNC:29858 STAT1 gene STAT1 Literature Disseminated non-tuberculous mycobacterial infection Bacterial disorders Infectious diseases MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mendelian Susceptibility to Mycobacterial Diseases (MSMD) 26621750 False 1 0;0;0 0.12 False ENSG00000115415 ENSG00000115415 HGNC:11362