Dentro de los servicios qGenEx, los paneles de exoma dirigido permiten restringir el estudio a un grupo de genes concreto según especialidad.
qGenEx IP analiza 303 genes asociados a inmunodeficiencias primarias usando secuenciación de exoma completo mediante NGS.
Utiliza el buscador para encontrar el grupo de genes relacionados con la patología que te interesa incluidos en el panel:
Gene | Median coverage | % covered > 10x | % covered > 20x | Associated Phenotype description and OMIM disease ID | |
---|---|---|---|---|---|
ACP5 | 224.9 | 1 | 0.99 | Spondyloenchondrodysplasia with immune dysregulation, | 607944 |
ACTB | 134.1 | 0.98 | 0.93 | Baraitser-Winter syndrome 1 | 243310 |
ACTB | 134.1 | 0.98 | 0.93 | ?Dystonia, juvenile-onset, | 607371 |
ADA | 118 | 0.99 | 0.97 | Adenosine deaminase deficiency, partial, | 102700 |
ADA | 118 | 0.99 | 0.97 | Severe combined immunodeficiency due to ADA deficiency, | 102700 |
ADAM17 | 140.9 | 0.97 | 0.93 | ?Inflammatory skin and bowel disease, neonatal, 1 | 614328 |
ADAR | 131.7 | 1 | 0.99 | Aicardi-Goutieres syndrome 6 | 615010 |
ADAR | 131.7 | 1 | 0.99 | Dyschromatosis symmetrica hereditaria, | 127400 |
AGA | 154.1 | 1 | 1 | Aspartylglucosaminuria, | 208400 |
AICDA | 150.7 | 0.97 | 0.91 | Immunodeficiency with hyper-IgM, type 2 | 605258 |
AIRE | 83.3 | 0.99 | 0.93 | Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, | 605258 |
AIRE | 83.3 | 0.99 | 0.93 | Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, | 240300 |
AK2 | 117 | 0.98 | 0.94 | Reticular dysgenesis, | 267500 |
ALG13 | 107.4 | 0.98 | 0.94 | Epileptic encephalopathy, early infantile, 36 | 300884 |
AP3B1 | 111.5 | 0.97 | 0.91 | Hermansky-Pudlak syndrome 2 | 608233 |
APOL1 | 192.4 | 1 | 1 | {End-stage renal disease, nondiabetic, susceptibility to}, | 612551 |
APOL1 | 192.4 | 1 | 1 | {Glomerulosclerosis, focal segmental, 4 susceptibility to}, | 612551 |
ATM | 124.3 | 0.98 | 0.93 | Ataxia-telangiectasia, | 208900 |
ATM | 124.3 | 0.98 | 0.93 | Lymphoma, B-cell non-Hodgkin, somatic | 208900 |
ATM | 124.3 | 0.98 | 0.93 | Lymphoma, mantle cell, somatic | 208900 |
ATM | 124.3 | 0.98 | 0.93 | T-cell prolymphocytic leukemia, somatic | 208900 |
ATM | 124.3 | 0.98 | 0.93 | {Breast cancer, susceptibility to}, | 114480 |
BLM | 139.6 | 0.98 | 0.95 | Bloom syndrome, | 210900 |
BLNK | 121.5 | 0.93 | 0.9 | Agammaglobulinemia 4 | 613502 |
BLOC1S6 | 106.6 | 0.98 | 0.92 | Hermansky-pudlak syndrome 9 | 614171 |
BTK | 150.9 | 1 | 0.99 | Agammaglobulinemia and isolated hormone deficiency, | 307200 |
BTK | 150.9 | 1 | 0.99 | Agammaglobulinemia, X-linked 1 | 300755 |
C1QA | 130.2 | 0.98 | 0.95 | C1q deficiency, | 613652 |
C1QB | 195 | 0.99 | 0.99 | C1q deficiency, | 613652 |
C1QC | 232.3 | 1 | 0.99 | C1q deficiency, | 613652 |
C1R | 168.3 | 1 | 1 | C1r/C1s deficiency, combined, | 216950 |
C1S | 144.7 | 1 | 0.99 | C1s deficiency, | 613783 |
C2 | 18.5 | 0.8 | 0.34 | C2 deficiency, | 217000 |
C2 | 18.5 | 0.8 | 0.34 | {Macular degeneration, age-related, 14 reduced risk of}, | 615489 |
C3 | 170.8 | 1 | 0.99 | C3 deficiency, | 613779 |
C3 | 170.8 | 1 | 0.99 | {Hemolytic uremic syndrome, atypical, susceptibility to, 5}, | 612925 |
C3 | 170.8 | 1 | 0.99 | {Macular degeneration, age-related, 9}, | 611378 |
C4A | 20.7 | 0.75 | 0.43 | C4a deficiency, | 614380 |
C4A | 20.7 | 0.75 | 0.43 | [Blood group, Rodgers], | 614374 |
C4B | 19 | 0.72 | 0.38 | C4B deficiency, | 614379 |
C5 | 150 | 0.97 | 0.94 | C5 deficiency, | 609536 |
C5 | 150 | 0.97 | 0.94 | [Eculizumab, poor response to], | 615749 |
C6 | 179.3 | 0.99 | 0.99 | C6 deficiency, | 612446 |
C6 | 179.3 | 0.99 | 0.99 | Combined C6/C7 deficiency | 612446 |
C7 | 153.6 | 0.98 | 0.94 | C7 deficiency, | 610102 |
C8A | 129.8 | 1 | 0.99 | C8 deficiency, type I, | 613790 |
C8B | 153.9 | 1 | 0.99 | C8 deficiency, type II, | 613789 |
C9 | 152 | 0.99 | 0.98 | C9 deficiency, | 613825 |
C9 | 152 | 0.99 | 0.98 | {Macular degeneration, age-related, 15 susceptibility to}, | 615591 |
CARD11 | 172.6 | 0.99 | 0.97 | B-cell expansion with NFKB and T-cell anergy, | 616452 |
CARD11 | 172.6 | 0.99 | 0.97 | Immunodeficiency 11 | 615206 |
CARD14 | 120.7 | 0.99 | 0.98 | Pityriasis rubra pilaris, | 173200 |
CARD14 | 120.7 | 0.99 | 0.98 | Psoriasis 2 | 602723 |
CARD9 | 126.3 | 0.97 | 0.96 | Candidiasis, familial, 2 autosomal recessive, | 212050 |
CASP10 | 123.6 | 0.99 | 0.96 | Autoimmune lymphoproliferative syndrome, type II, | 603909 |
CASP10 | 123.6 | 0.99 | 0.96 | Gastric cancer, somatic, | 613659 |
CASP10 | 123.6 | 0.99 | 0.96 | Lymphoma, non-Hodgkin, somatic, | 605027 |
CASP8 | 179.3 | 1 | 0.99 | Hepatocellular carcinoma, somatic, | 114550 |
CASP8 | 179.3 | 1 | 0.99 | ?Autoimmune lymphoproliferative syndrome, type IIB, | 607271 |
CASP8 | 179.3 | 1 | 0.99 | {Breast cancer, protection against}, | 114480 |
CASP8 | 179.3 | 1 | 0.99 | {Lung cancer, protection against}, | 211980 |
CD19 | 100.7 | 0.99 | 0.98 | Immunodeficiency, common variable, 3 | 613493 |
CD247 | 124.3 | 1 | 1 | ?Immunodeficiency 25 | 610163 |
CD27 | 126.3 | 0.99 | 0.99 | Lymphoproliferative syndrome 2 | 615122 |
CD3D | 217.5 | 1 | 1 | Immunodeficiency 19 | 615617 |
CD3E | 172.6 | 1 | 0.99 | Immunodeficiency 18 | 615615 |
CD3E | 172.6 | 1 | 0.99 | Immunodeficiency 18 SCID variant, | 615615 |
CD3G | 189 | 1 | 1 | Immunodeficiency 17 CD3 gamma deficient, | 615607 |
CD40 | 205.1 | 1 | 0.99 | Immunodeficiency with hyper-IgM, type 3 | 606843 |
CD40LG | 151 | 0.96 | 0.9 | Immunodeficiency, X-linked, with hyper-IgM, | 308230 |
CD46 | 140.5 | 0.97 | 0.92 | {Hemolytic uremic syndrome, atypical, susceptibility to, 2}, | 612922 |
CD55 | 154.8 | 0.91 | 0.83 | [Blood group Cromer], | 613793 |
CD59 | 234.2 | 0.92 | 0.86 | Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy, | 612300 |
CD79A | 146.6 | 0.99 | 0.97 | Agammaglobulinemia 3 | 613501 |
CD79B | 241.5 | 1 | 1 | Agammaglobulinemia 6 | 612692 |
CD81 | 162.7 | 1 | 0.99 | Immunodeficiency, common variable, 6 | 613496 |
CD8A | 108 | 0.99 | 0.98 | CD8 deficiency, familial, | 608957 |
CDCA7 | 113.4 | 0.99 | 0.98 | Immunodeficiency-centromeric instability-facial anomalies syndrome 3 | 616910 |
CDKN2B | 72.8 | 0.99 | 0.99 | No OMIM phenotype | 616910 |
CDKN2B | 72.8 | 0.99 | 0.99 | Renal cell carcinoma (Jafri -2015 Cancer Discov 5 723) | 616910 |
CDKN2B | 72.8 | 0.99 | 0.99 | Multiple endocrine neoplasia 1 (Agarwal -2009 J Clin Endocrinol Metab 94 1826) | 616910 |
CDKN2B | 72.8 | 0.99 | 0.99 | ?Melanoma (Foley -2015 EBioMedicine 2,74) | 616910 |
CDKN2B | 72.8 | 0.99 | 0.99 | ?Parathyroid adenoma (Costa-Guda -2013 Horm Cancer 4 301) | 616910 |
CEBPE | 78.4 | 0.99 | 0.98 | Specific granule deficiency, | 245480 |
CECR1 | 111.6 | 0.99 | 0.98 | Polyarteritis nodosa, childhood-onset, | 615688 |
CECR1 | 111.6 | 0.99 | 0.98 | ?Sneddon syndrome, | 182410 |
CFB | 21.3 | 0.81 | 0.45 | ?Complement factor B deficiency, | 615561 |
CFB | 21.3 | 0.81 | 0.45 | {Hemolytic uremic syndrome, atypical, susceptibility to, 4}, | 612924 |
CFB | 21.3 | 0.81 | 0.45 | {Macular degeneration, age-related, 14 reduced risk of}, | 615489 |
CFD | 74.2 | 0.95 | 0.86 | Complement factor D deficiency, | 613912 |
CFH | 193.2 | 0.98 | 0.96 | Basal laminar drusen, | 126700 |
CFH | 193.2 | 0.98 | 0.96 | Complement factor H deficiency, | 609814 |
CFH | 193.2 | 0.98 | 0.96 | {Hemolytic uremic syndrome, atypical, susceptibility to, 1}, | 235400 |
CFH | 193.2 | 0.98 | 0.96 | {Macular degeneration, age-related, 4}, | 610698 |
CFHR1 | 207 | 0.92 | 0.9 | {Hemolytic uremic syndrome, atypical, susceptibility to}, | 235400 |
CFHR1 | 207 | 0.92 | 0.9 | {Macular degeneration, age-related, reduced risk of}, | 603075 |
CFHR3 | 107.1 | 0.85 | 0.8 | {Hemolytic uremic syndrome, atypical, susceptibility to}, | 235400 |
CFHR3 | 107.1 | 0.85 | 0.8 | {Macular degeneration, age-related, reduced risk of}, | 603075 |
CFHR5 | 112.2 | 0.98 | 0.94 | Nephropathy due to CFHR5 deficiency, | 614809 |
CFI | 174.8 | 0.97 | 0.96 | Complement factor I deficiency, | 610984 |
CFI | 174.8 | 0.97 | 0.96 | {Hemolytic uremic syndrome, atypical, susceptibility to, 3}, | 612923 |
CFI | 174.8 | 0.97 | 0.96 | {Macular degeneration, age-related, 13 susceptibility to}, | 615439 |
CFP | 103.5 | 0.98 | 0.93 | Properdin deficiency,X-linked, | 312060 |
CHD7 | 161 | 0.99 | 0.98 | CHARGE syndrome, | 214800 |
CHD7 | 161 | 0.99 | 0.98 | Hypogonadotropic hypogonadism 5 with or without anosmia, | 612370 |
CIITA | 133.9 | 1 | 0.99 | Bare lymphocyte syndrome, type II, complementation group A, | 209920 |
CIITA | 133.9 | 1 | 0.99 | {Rheumatoid arthritis, susceptibility to}, | 180300 |
CLEC4D | 151.1 | 1 | 1 | No OMIM phenotype | 180300 |
CLEC7A | 170.2 | 1 | 0.99 | Candidiasis, familial, 4 autosomal recessive, | 613108 |
CLEC7A | 170.2 | 1 | 0.99 | {Aspergillosis, susceptibility to}, | 614079 |
COLEC11 | 220.9 | 1 | 1 | 3MC syndrome 2 | 265050 |
COPA | 147.5 | 1 | 0.99 | {Autoimmune interstitial lung, joint, and kidney disease}, | 616414 |
CORO1A | 172.4 | 0.98 | 0.94 | Immunodeficiency 8 | 615401 |
CR2 | 183.5 | 1 | 0.99 | Immunodeficiency, common variable, 7 | 614699 |
CR2 | 183.5 | 1 | 0.99 | {Systemic lupus erythematosus, susceptibility to, 9}, | 610927 |
CREBBP | 147.6 | 0.99 | 0.96 | Rubinstein-Taybi syndrome, | 180849 |
CSF2RA | 61.2 | 0.89 | 0.86 | Surfactant metabolism dysfunction, pulmonary, 4 | 300770 |
CSF3R | 100.3 | 0.98 | 0.95 | ?Neutrophilia, hereditary, | 162830 |
CTC1 | 118.9 | 0.99 | 0.99 | Cerebroretinal microangiopathy with calcifications and cysts, | 612199 |
CTLA4 | 227.1 | 1 | 1 | Autoimmune lymphoproliferative syndrome, type V, | 616100 |
CTLA4 | 227.1 | 1 | 1 | {Celiac disease, susceptibility to, 3}, | 609755 |
CTLA4 | 227.1 | 1 | 1 | {Diabetes mellitus, insulin-dependent, 12}, | 601388 |
CTLA4 | 227.1 | 1 | 1 | {Hashimoto thyroiditis}, | 140300 |
CTLA4 | 227.1 | 1 | 1 | {Systemic lupus erythematosus, susceptibility to}, | 152700 |
CTSC | 148.6 | 1 | 1 | Haim-Munk syndrome, | 245010 |
CTSC | 148.6 | 1 | 1 | Papillon-Lefevre syndrome, | 245000 |
CTSC | 148.6 | 1 | 1 | Periodontitis 1 juvenile, | 170650 |
CXCR4 | 210.4 | 1 | 0.99 | Myelokathexis, isolated | 170650 |
CXCR4 | 210.4 | 1 | 0.99 | WHIM syndrome, | 193670 |
CYBA | 99.1 | 0.86 | 0.79 | Chronic granulomatous disease, autosomal, due to deficiency of CYBA, | 233690 |
CYBB | 143.1 | 1 | 0.99 | Chronic granulomatous disease, X-linked, | 306400 |
CYBB | 143.1 | 1 | 0.99 | Immunodeficiency 34 mycobacteriosis, X-linked, | 300645 |
DCLRE1C | 144.2 | 0.97 | 0.94 | Omenn syndrome, | 603554 |
DCLRE1C | 144.2 | 0.97 | 0.94 | Severe combined immunodeficiency, Athabascan type, | 602450 |
DDX58 | 146.4 | 0.98 | 0.96 | Singleton-Merten syndrome 2 | 616298 |
DHFR | 55 | 0.9 | 0.73 | Megaloblastic anemia due to dihydrofolate reductase deficiency, | 613839 |
DKC1 | 138.1 | 0.99 | 0.98 | Dyskeratosis congenita, X-linked, | 305000 |
DNMT3B | 141 | 1 | 0.99 | Immunodeficiency-centromeric instability-facial anomalies syndrome 1 | 242860 |
DOCK2 | 161.1 | 1 | 0.99 | Immunodeficiency 40 | 616433 |
DOCK8 | 151.8 | 1 | 0.99 | Hyper-IgE recurrent infection syndrome, autosomal recessive, | 243700 |
ELANE | 103.8 | 0.99 | 0.97 | Neutropenia, cyclic, | 162800 |
ELANE | 103.8 | 0.99 | 0.97 | Neutropenia, severe congenital 1 autosomal dominant, | 202700 |
ELF4 | 93.1 | 0.99 | 0.97 | No OMIM phenotype | 202700 |
EPG5 | 144.7 | 0.99 | 0.97 | Vici syndrome, | 242840 |
ERCC2 | 143.5 | 1 | 0.99 | Cerebrooculofacioskeletal syndrome 2 | 610756 |
ERCC2 | 143.5 | 1 | 0.99 | Trichothiodystrophy 1 photosensitive, | 601675 |
ERCC2 | 143.5 | 1 | 0.99 | Xeroderma pigmentosum, group D, | 278730 |
ERCC3 | 117.6 | 0.99 | 0.98 | Trichothiodystrophy 2 photosensitive, | 616390 |
ERCC3 | 117.6 | 0.99 | 0.98 | Xeroderma pigmentosum, group B, | 610651 |
F12 | 123 | 0.99 | 0.99 | Angioedema, hereditary, type III, | 610618 |
F12 | 123 | 0.99 | 0.99 | Factor XII deficiency, | 234000 |
FADD | 142.2 | 0.99 | 0.98 | Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovasuclar malformations, | 234000 |
FADD | 142.2 | 0.99 | 0.98 | Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovasuclar malformations, | 613759 |
FAS | 303 | 0.99 | 0.99 | Autoimmune lymphoproliferative syndrome, type IA, | 601859 |
FAS | 303 | 0.99 | 0.99 | Squamous cell carcinoma, burn scar-related, somatic | 601859 |
FAS | 303 | 0.99 | 0.99 | {Autoimmune lymphoproliferative syndrome}, | 601859 |
FASLG | 97.9 | 1 | 0.99 | Autoimmune lymphoproliferative syndrome, type IB, | 601859 |
FASLG | 97.9 | 1 | 0.99 | {Lung cancer, susceptibility to}, | 211980 |
FCGR1A | 69.2 | 0.47 | 0.42 | [IgG receptor I, phagocytic, familial deficiency of] | 211980 |
FCGR3A | 226.3 | 1 | 0.99 | Immunodeficiency 20 | 615707 |
FCN3 | 143.3 | 0.99 | 0.99 | Immunodeficiency due to ficolin 3 deficiency, | 613860 |
FERMT3 | 132.4 | 0.99 | 0.99 | Leukocyte adhesion deficiency,type III, | 612840 |
FOXN1 | 110.9 | 0.99 | 0.98 | T-cell immunodeficiency, congenital alopecia, and nail dystrophy, | 601705 |
FOXP3 | 136.8 | 0.98 | 0.91 | Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, | 304790 |
FOXP3 | 136.8 | 0.98 | 0.91 | {Diabetes mellitus, type I, susceptibility to}, | 222100 |
FPR1 | 228.6 | 1 | 0.99 | No OMIM phenotype | 222100 |
G6PC | 219.4 | 1 | 1 | Glycogen storage disease Ia, | 232200 |
G6PC3 | 138.4 | 1 | 1 | Dursun syndrome, | 612541 |
G6PC3 | 138.4 | 1 | 1 | Neutropenia, severe congenital 4 autosomal recessive, | 612541 |
G6PD | 138 | 0.99 | 0.98 | Favism, | 134700 |
G6PD | 138 | 0.99 | 0.98 | Hemolytic anemia due to G6PD deficiency, | 300908 |
G6PD | 138 | 0.99 | 0.98 | {Resistance to malaria due to G6PD deficiency}, | 611162 |
GATA2 | 145.6 | 1 | 0.99 | Emberger syndrome, | 614038 |
GATA2 | 145.6 | 1 | 0.99 | Immunodeficiency 21 | 614172 |
GATA2 | 145.6 | 1 | 0.99 | {Leukemia, acute myeloid, susceptibility to}, | 601626 |
GATA2 | 145.6 | 1 | 0.99 | {Myelodysplastic syndrome, susceptibility to}, | 614286 |
GFI1 | 99.2 | 0.98 | 0.92 | Neutropenia, nonimmune chronic idiopathic, of adults, | 607847 |
GFI1 | 99.2 | 0.98 | 0.92 | Neutropenia, severe congenital 2 autosomal dominant, | 613107 |
GJC2 | 52.2 | 0.85 | 0.68 | Leukodystrophy, hypomyelinating, 2 | 608804 |
GJC2 | 52.2 | 0.85 | 0.68 | Lymphedema, hereditary, IC, | 613480 |
GJC2 | 52.2 | 0.85 | 0.68 | Spastic paraplegia 44 autosomal recessive, | 613206 |
GTF2H5 | 149.4 | 1 | 0.99 | Trichothiodystrophy 3 photosensitive, | 616395 |
HAX1 | 148 | 1 | 1 | Neutropenia, severe congenital 3 autosomal recessive, | 610738 |
HELLS | 106.6 | 0.91 | 0.86 | Immunodeficiency-centromeric instability-facial anomalies syndrome 4, | 616911 |
ICOS | 168.7 | 1 | 0.99 | Immunodeficiency, common variable, 1 | 607594 |
IFIH1 | 130 | 0.98 | 0.96 | Aicardi-Goutieres syndrome 7 | 615846 |
IFIH1 | 130 | 0.98 | 0.96 | Singleton-Merten syndrome 1 | 182250 |
IFNGR1 | 153.4 | 0.99 | 0.97 | Immunodeficiency 27A, mycobacteriosis, AR, | 209950 |
IFNGR1 | 153.4 | 0.99 | 0.97 | Immunodeficiency 27B, mycobacteriosis, AD, | 615978 |
IFNGR1 | 153.4 | 0.99 | 0.97 | {H, pylori infection, susceptibility to}, | 600263 |
IFNGR1 | 153.4 | 0.99 | 0.97 | {Hepatitis B virus infection, susceptibility to}, | 610424 |
IFNGR1 | 153.4 | 0.99 | 0.97 | {Tuberculosis infection, protection against}, | 607948 |
IFNGR1 | 153.4 | 0.99 | 0.97 | {Tuberculosis, susceptibility to}, | 607948 |
IFNGR2 | 169.1 | 0.94 | 0.93 | Immunodeficiency 28 mycobacteriosis, | 614889 |
IGLL1 | 73 | 0.98 | 0.92 | Agammaglobulinemia 2 | 613500 |
IKBKB | 135.8 | 0.98 | 0.94 | Immunodeficiency 15 | 615592 |
IKBKG | 56.2 | 0.84 | 0.7 | Ectodermal dysplasia, hypohidrotic, with immune deficiency, | 300291 |
IKBKG | 56.2 | 0.84 | 0.7 | Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, | 300301 |
IKBKG | 56.2 | 0.84 | 0.7 | Immunodeficiency 33 | 300636 |
IKBKG | 56.2 | 0.84 | 0.7 | Immunodeficiency, isolated, | 300584 |
IKBKG | 56.2 | 0.84 | 0.7 | Incontinentia pigmenti, | 308300 |
IKBKG | 56.2 | 0.84 | 0.7 | Invasive pneumococcal disease, recurrent isolated, 2 | 300640 |
IKZF1 | 188.9 | 1 | 0.99 | Immunodeficiency,common variable, 1, | 616873 |
IL10RA | 156.7 | 1 | 0.99 | Inflammatory bowel disease 28 early onset, autosomal recessive, | 613148 |
IL10RB | 214.3 | 0.98 | 0.96 | Inflammatory bowel disease 25 early onset, autosomal recessive, | 612567 |
IL10RB | 214.3 | 0.98 | 0.96 | {Hepatitis B virus, susceptibility to}, | 610424 |
IL12B | 125.9 | 1 | 0.99 | Immunodeficiency 29 mycobacteriosis, | 614890 |
IL12RB1 | 137.3 | 0.97 | 0.95 | Immunodeficiency 30 | 614891 |
IL17F | 89.2 | 0.99 | 0.95 | ?Candidiasis, familial, 6 autosomal dominant, | 613956 |
IL17RA | 136.4 | 0.99 | 0.96 | ?Candidiasis, familial, 5 autosomal recessive, | 613953 |
IL1RN | 186.9 | 1 | 0.99 | Interleukin 1 receptor antagonist deficiency, | 612852 |
IL1RN | 186.9 | 1 | 0.99 | {Gastric cancer risk after H, pylori infection}, | 137215 |
IL1RN | 186.9 | 1 | 0.99 | {Microvascular complications of diabetes 4}, | 612628 |
IL2 | 73.6 | 0.94 | 0.85 | Severe combined immunodeficiency due to IL2 deficiency | 612628 |
IL21R | 144.1 | 1 | 0.99 | Immunodeficiency, primary, autosomal recessive, IL21R-related, | 615207 |
IL21R | 144.1 | 1 | 0.99 | [IgE, elevated level of], | 147050 |
IL2RA | 143.5 | 1 | 0.99 | Immunodeficiency 41 with lymphoproliferation and autoimmunity, | 606367 |
IL2RA | 143.5 | 1 | 0.99 | {Diabetes, mellitus, insulin-dependent, susceptibility to, 10}, | 601942 |
IL2RG | 78.6 | 1 | 0.98 | Combined immunodeficiency, X-linked, moderate, | 312863 |
IL2RG | 78.6 | 1 | 0.98 | Severe combined immunodeficiency, X-linked, | 300400 |
IL36RN | 106.9 | 1 | 0.99 | Psoriasis 14 pustular, | 614204 |
IL7R | 154.9 | 1 | 0.99 | Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, | 608971 |
INSR | 146.5 | 0.96 | 0.94 | Diabetes mellitus, insulin-resistant, with acanthosis nigricans, | 610549 |
INSR | 146.5 | 0.96 | 0.94 | Hyperinsulinemic hypoglycemia, familial, 5 | 609968 |
INSR | 146.5 | 0.96 | 0.94 | Leprechaunism, | 246200 |
INSR | 146.5 | 0.96 | 0.94 | Rabson-Mendenhall syndrome, | 262190 |
IRAK4 | 105 | 0.97 | 0.88 | Invasive pneumococcal disease, recurrent isolated, 1 | 610799 |
IRAK4 | 105 | 0.97 | 0.88 | IRAK4 deficiency, | 607676 |
IRF7 | 101.2 | 0.99 | 0.99 | ?Immunodeficiency 39 | 616345 |
IRF8 | 124.3 | 0.99 | 0.97 | Immunodeficiency 32A, mycobacteriosis, autosomal dominant, | 614893 |
IRF8 | 124.3 | 0.99 | 0.97 | Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, | 614894 |
ISG15 | 167.8 | 1 | 1 | Immunodeficiency 38 | 616126 |
ITCH | 136.2 | 0.95 | 0.94 | Autoimmune disease, multisystem, with facial dysmorphism, | 613385 |
ITGB2 | 174.4 | 1 | 0.99 | Leukocyte adhesion deficiency, | 116920 |
ITK | 141 | 0.99 | 0.98 | Lymphoproliferative syndrome 1 | 613011 |
JAK2 | 103 | 0.95 | 0.92 | Erythrocytosis, somatic, | 133100 |
JAK2 | 103 | 0.95 | 0.92 | Leukemia, acute myeloid, somatic, | 601626 |
JAK2 | 103 | 0.95 | 0.92 | Myelofibrosis, somatic, | 254450 |
JAK2 | 103 | 0.95 | 0.92 | Polycythemia vera, somatic, | 263300 |
JAK2 | 103 | 0.95 | 0.92 | Thrombocythemia 3 | 614521 |
JAK2 | 103 | 0.95 | 0.92 | {Budd-Chiari syndrome, somatic}, | 600800 |
JAK3 | 111.6 | 0.98 | 0.94 | SCID, autosomal recessive, T-negative/B-positive type, | 600802 |
KMT2D | 162.1 | 0.99 | 0.99 | Kabuki syndrome 1 | 147920 |
KRAS | 72.1 | 0.99 | 0.96 | Bladder cancer, somatic, | 109800 |
KRAS | 72.1 | 0.99 | 0.96 | Breast cancer, somatic, | 114480 |
KRAS | 72.1 | 0.99 | 0.96 | Cardiofaciocutaneous syndrome 2 | 615278 |
KRAS | 72.1 | 0.99 | 0.96 | Gastric cancer, somatic, | 137215 |
KRAS | 72.1 | 0.99 | 0.96 | Leukemia, acute myeloid, | 601626 |
KRAS | 72.1 | 0.99 | 0.96 | Lung cancer, somatic, | 211980 |
KRAS | 72.1 | 0.99 | 0.96 | Noonan syndrome 3 | 609942 |
KRAS | 72.1 | 0.99 | 0.96 | Pancreatic carcinoma, somatic, | 260350 |
KRAS | 72.1 | 0.99 | 0.96 | RAS-associated autoimmune leukoproliferative disorder, | 614470 |
KRAS | 72.1 | 0.99 | 0.96 | Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, | 163200 |
LAMTOR2 | 175.9 | 1 | 1 | Immunodeficiency due to defect in MAPBP-interacting protein, | 610798 |
LCK | 176.3 | 0.97 | 0.95 | ?Immunodeficiency 22 | 615758 |
LIG1 | 102.6 | 0.99 | 0.99 | DNA ligase I deficiency | 615758 |
LIG4 | 181.8 | 1 | 0.99 | LIG4 syndrome, | 606593 |
LIG4 | 181.8 | 1 | 0.99 | {Multiple myeloma, resistance to}, | 254500 |
LPIN2 | 129.6 | 0.99 | 0.99 | Majeed syndrome, | 609628 |
LRBA | 150 | 0.98 | 0.97 | Immunodeficiency, common variable, 8 with autoimmunity, | 614700 |
LRRC8A | 290.6 | 0.99 | 0.99 | Agammaglobulinemia 5 | 613506 |
LTBP3 | 126.4 | 0.98 | 0.96 | Dental anomalies and short stature, | 601216 |
LYST | 151.3 | 0.97 | 0.94 | Chediak-Higashi syndrome, | 214500 |
MAGT1 | 130.4 | 0.98 | 0.95 | Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, | 214500 |
MAGT1 | 130.4 | 0.98 | 0.95 | Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, | 300853 |
MAL | 158.4 | 1 | 1 | No OMIM phenotype | 300853 |
MAN2B1 | 137.2 | 0.98 | 0.96 | Mannosidosis, alpha-, types I and II, | 248500 |
MANBA | 144.2 | 0.99 | 0.95 | Mannosidosis, beta, | 248510 |
MASP2 | 165.4 | 0.99 | 0.98 | MASP2 deficiency, | 613791 |
MBL2 | 137.1 | 0.99 | 0.99 | {Chronic infections, due to MBL deficiency}, | 614372 |
MC2R | 233.7 | 1 | 0.99 | Glucocorticoid deficiency, due to ACTH unresponsiveness, | 202200 |
MCM4 | 182.8 | 0.99 | 0.98 | Natural killer cell and glucocorticoid deficiency with DNA repair defect, | 609981 |
MEFV | 131.1 | 0.95 | 0.91 | Familial Mediterranean fever, AD, | 134610 |
MEFV | 131.1 | 0.95 | 0.91 | Familial Mediterranean fever, AR, | 249100 |
MKL1 | 119.5 | 0.98 | 0.95 | Megakaryoblastic leukemia, acute | 249100 |
MPO | 164.8 | 1 | 0.99 | Myeloperoxidase deficiency, | 254600 |
MPO | 164.8 | 1 | 0.99 | {Alzheimer disease, susceptibility to}, | 104300 |
MPO | 164.8 | 1 | 0.99 | {Lung cancer, protection against, in smokers} | 104300 |
MRE11A | 57.6 | 0.95 | 0.85 | Ataxia-telangiectasia-like disorder, | 604391 |
MS4A1 | 138 | 0.99 | 0.95 | Immunodeficiency, common variable, 5 | 613495 |
MTHFD1 | 157.8 | 0.99 | 0.97 | {Abruptio placentae, susceptibility to} | 613495 |
MTHFD1 | 157.8 | 0.99 | 0.97 | {Spina bifida, folate-sensitive, susceptibility to}, | 601634 |
MVK | 146.1 | 1 | 0.99 | Hyper-IgD syndrome, | 260920 |
MVK | 146.1 | 1 | 0.99 | Mevalonic aciduria, | 610377 |
MVK | 146.1 | 1 | 0.99 | Porokeratosis 3 multiple types, | 175900 |
MYD88 | 207.3 | 0.99 | 0.99 | Macroglobulinemia, Waldenstrom, somatic, | 153600 |
MYD88 | 207.3 | 0.99 | 0.99 | Pyogenic bacterial infections, recurrent, due to MYD88 deficiency, | 612260 |
NBN | 89.5 | 0.98 | 0.94 | Aplastic anemia, | 609135 |
NBN | 89.5 | 0.98 | 0.94 | Leukemia, acute lymphoblastic, | 613065 |
NBN | 89.5 | 0.98 | 0.94 | Nijmegen breakage syndrome, | 251260 |
NCF1 | 21.9 | 0.25 | 0.22 | Chronic granulomatous disease due to deficiency of NCF-1, | 233700 |
NCF2 | 138.1 | 0.99 | 0.98 | Chronic granulomatous disease due to deficiency of NCF-2, | 233710 |
NCF4 | 174.6 | 1 | 0.99 | ?Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III, | 613960 |
NCSTN | 127.9 | 1 | 0.99 | Acne inversa, familial, 1 | 142690 |
NDNL2 | 139 | 0.98 | 0.95 | No OMIM phenotype | 142690 |
NFKB1 | 122.7 | 0.99 | 0.95 | Immunodeficiency, common variable, 12 | 616576 |
NFKB2 | 139.3 | 0.98 | 0.95 | Immunodeficiency, common variable, 10 | 615577 |
NFKBIA | 117.7 | 0.98 | 0.94 | Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, | 612132 |
NHEJ1 | 87.6 | 1 | 0.98 | Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing | 612132 |
NHEJ1 | 87.6 | 1 | 0.98 | radiation, | 611291 |
NHP2 | 87.3 | 0.99 | 0.98 | Dyskeratosis congenita, autosomal recessive 2 | 613987 |
NKX2-5 | 94.7 | 1 | 0.99 | Atrial septal defect 7 with or without AV conduction defects, | 108900 |
NKX2-5 | 94.7 | 1 | 0.99 | Conotruncal heart malformations, variable, | 217095 |
NKX2-5 | 94.7 | 1 | 0.99 | Hypoplastic left heart syndrome 2 | 614435 |
NKX2-5 | 94.7 | 1 | 0.99 | Hypothyroidism, congenital nongoitrous, 5 | 225250 |
NKX2-5 | 94.7 | 1 | 0.99 | Tetrology of Fallot, | 187500 |
NKX2-5 | 94.7 | 1 | 0.99 | Ventricular septal defect 3 | 614432 |
NLRC4 | 191.4 | 1 | 0.99 | Autoinflammation with infantile enterocolitis, | 616050 |
NLRC4 | 191.4 | 1 | 0.99 | ?Familial cold autoinflammatory syndrome 4 | 616115 |
NLRP1 | 137 | 0.99 | 0.96 | ?Corneal intraepithelial dyskeratosis and ectodermal dysplasia, | 615225 |
NLRP1 | 137 | 0.99 | 0.96 | {Vitiligo-associated multiple autoimmune disease susceptibility 1}, | 606579 |
NLRP12 | 168.8 | 0.99 | 0.99 | Familial cold autoinflammatory syndrome 2 | 611762 |
NLRP3 | 153.2 | 1 | 0.99 | CINCA syndrome, | 607115 |
NLRP3 | 153.2 | 1 | 0.99 | Familial cold-induced inflammatory syndrome 1 | 120100 |
NLRP3 | 153.2 | 1 | 0.99 | Muckle-Wells syndrome, | 191900 |
NOD2 | 148.9 | 1 | 0.99 | Blau syndrome, | 186580 |
NOD2 | 148.9 | 1 | 0.99 | Sarcoidosis, early-onset, | 609464 |
NOD2 | 148.9 | 1 | 0.99 | {Inflammatory bowel disease 1}, | 266600 |
NOD2 | 148.9 | 1 | 0.99 | {Psoriatic arthritis, susceptibility to}, | 607507 |
NOP10 | 189.4 | 1 | 1 | Dyskeratosis congenita, autosomal recessive 1 | 224230 |
NRAS | 205.7 | 1 | 1 | Colorectal cancer, somatic, | 114500 |
NRAS | 205.7 | 1 | 1 | Epidermal nevus, somatic, | 162900 |
NRAS | 205.7 | 1 | 1 | Melanocytic nevus syndrome, congenital, somatic, | 137550 |
NRAS | 205.7 | 1 | 1 | Neurocutaneous melanosis, somatic, | 249400 |
NRAS | 205.7 | 1 | 1 | Noonan syndrome 6 | 613224 |
NRAS | 205.7 | 1 | 1 | Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, | 163200 |
NRAS | 205.7 | 1 | 1 | Thyroid carcinoma, follicular, somatic, | 188470 |
NRAS | 205.7 | 1 | 1 | ?RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic, | 614470 |
ORAI1 | 223.9 | 0.93 | 0.91 | Immunodeficiency 9 | 612782 |
ORAI1 | 223.9 | 0.93 | 0.91 | Myopathy, tubular aggregate, 2 | 615883 |
PARN | 140.4 | 0.99 | 0.97 | Dyskeratosis congenita, autosomal recessive 6 | 616353 |
PARN | 140.4 | 0.99 | 0.97 | Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 | 616371 |
PBX1 | 123.1 | 0.98 | 0.95 | Leukemia, acute pre-B-cell, | 176310 |
PCCA | 116.6 | 0.96 | 0.91 | Propionicacidemia, | 606054 |
PCCB | 160.5 | 0.97 | 0.95 | Propionicacidemia, | 606054 |
PEPD | 121.4 | 0.99 | 0.98 | Prolidase deficiency, | 170100 |
PGM3 | 212.5 | 1 | 0.99 | Immunodeficiency 23 | 615816 |
PIGA | 102.1 | 0.92 | 0.84 | Multiple congenital anomalies-hypotonia-seizures syndrome 2 | 300868 |
PIGA | 102.1 | 0.92 | 0.84 | Paroxysmal nocturnal hemoglobinuria, somatic, | 300818 |
PIK3CD | 149.1 | 0.99 | 0.97 | Immunodeficiency 14 | 615513 |
PIK3R1 | 144 | 0.99 | 0.96 | Immunodeficiency 36 | 616005 |
PIK3R1 | 144 | 0.99 | 0.96 | SHORT syndrome, | 269880 |
PIK3R1 | 144 | 0.99 | 0.96 | ?Agammaglobulinemia 7 autosomal recessive, | 615214 |
PLCG2 | 133.6 | 1 | 0.99 | Autoinflammation, antibody deficiency, and immune dysregulation syndrome, | 614878 |
PLCG2 | 133.6 | 1 | 0.99 | Familial cold autoinflammatory syndrome 3 | 614468 |
PLG | 133.1 | 0.87 | 0.87 | Dysplasminogenemia, | 217090 |
PLG | 133.1 | 0.87 | 0.87 | Plasminogen deficiency, type I, | 217090 |
PMM2 | 178.4 | 0.99 | 0.99 | Congenital disorder of glycosylation, type Ia, | 212065 |
PNP | 148.5 | 1 | 0.99 | Immunodeficiency due to purine nucleoside phosphorylase deficiency, | 613179 |
PRF1 | 130.4 | 1 | 0.99 | Aplastic anemia, | 609135 |
PRF1 | 130.4 | 1 | 0.99 | Hemophagocytic lymphohistiocytosis, familial, 2 | 603553 |
PRF1 | 130.4 | 1 | 0.99 | Lymphoma, non-Hodgkin, | 605027 |
PRKDC | 120.4 | 0.97 | 0.93 | Immunodeficiency 26 with or without neurologic abnormalities, | 615966 |
PRPS1 | 201.5 | 1 | 1 | Arts syndrome, | 301835 |
PRPS1 | 201.5 | 1 | 1 | Charcot-Marie-Tooth disease, X-linked recessive, 5 | 311070 |
PRPS1 | 201.5 | 1 | 1 | Deafness, X-linked 1 | 304500 |
PRPS1 | 201.5 | 1 | 1 | Gout, PRPS-related, | 300661 |
PRPS1 | 201.5 | 1 | 1 | Phosphoribosylpyrophosphate synthetase superactivity, | 300661 |
PSENEN | 93.7 | 0.99 | 0.99 | Acne inversa, familial, 2 | 613736 |
PSMB8 | 16.1 | 0.57 | 0.25 | Autoinflammation, lipodystrophy, and dermatosis syndrome, | 256040 |
PSTPIP1 | 99.8 | 0.99 | 0.95 | Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, | 604416 |
PTPN11 | 101.2 | 0.96 | 0.9 | LEOPARD syndrome 1 | 151100 |
PTPN11 | 101.2 | 0.96 | 0.9 | Leukemia, juvenile myelomonocytic, somatic, | 607785 |
PTPN11 | 101.2 | 0.96 | 0.9 | Metachondromatosis, | 156250 |
PTPN11 | 101.2 | 0.96 | 0.9 | Noonan syndrome 1 | 163950 |
PTPRC | 115.8 | 0.93 | 0.86 | Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive, | 608971 |
PTPRC | 115.8 | 0.93 | 0.86 | {Hepatitic C virus, susceptibility to}, | 609532 |
PTRF | 142.9 | 0.99 | 0.98 | Lipodystrophy, congenital generalized, type 4 | 613327 |
RAB27A | 178 | 1 | 0.98 | Griscelli syndrome, type 2 | 607624 |
RAC2 | 130.5 | 1 | 0.99 | Neutrophil immunodeficiency syndrome, | 608203 |
RAG1 | 230.7 | 1 | 1 | Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, | 608203 |
RAG1 | 230.7 | 1 | 1 | and autoimmunity, | 609889 |
RAG1 | 230.7 | 1 | 1 | Combined cellular and humoral immune defects with granulomas, | 233650 |
RAG1 | 230.7 | 1 | 1 | Omenn syndrome, | 603554 |
RAG1 | 230.7 | 1 | 1 | Severe combined immunodeficiency, B cell-negative, | 601457 |
RAG2 | 258.8 | 1 | 0.99 | Combined cellular and humoral immune defects with granulomas, | 233650 |
RAG2 | 258.8 | 1 | 0.99 | Omenn syndrome, | 603554 |
RAG2 | 258.8 | 1 | 0.99 | Severe combined immunodeficiency, B cell-negative, | 601457 |
RASGRP2 | 111.2 | 0.99 | 0.97 | ?Bleeding disorder, platelet-type, 18 | 615888 |
RBCK1 | 110.1 | 0.97 | 0.93 | Polyglucosan body myopathy 1 with or without immunodeficiency, | 615895 |
RECQL4 | 150 | 0.98 | 0.97 | Baller-Gerold syndrome, | 218600 |
RECQL4 | 150 | 0.98 | 0.97 | RAPADILINO syndrome, | 266280 |
RECQL4 | 150 | 0.98 | 0.97 | Rothmund-Thomson syndrome, | 268400 |
RFX5 | 121.3 | 0.98 | 0.97 | Bare lymphocyte syndrome, type II, complementation group C, | 209920 |
RFX5 | 121.3 | 0.98 | 0.97 | Bare lymphocyte syndrome, type II, complementation group E, | 209920 |
RFXANK | 116.6 | 1 | 1 | MHC class II deficiency, complementation group B, | 209920 |
RFXAP | 130.5 | 0.95 | 0.92 | Bare lymphocyte syndrome, type II, complementation group D, | 209920 |
RHOH | 142.5 | 1 | 1 | No OMIM phenotype | 209920 |
RHOH | 142.5 | 1 | 1 | RMRP NC NC NC Anauxetic dysplasia, | 607095 |
RHOH | 142.5 | 1 | 1 | Cartilage-hair hypoplasia, | 250250 |
RHOH | 142.5 | 1 | 1 | Metaphyseal dysplasia without hypotrichosis, | 250460 |
RNASEH2A | 149.3 | 1 | 0.99 | Aicardi-Goutieres syndrome 4 | 610333 |
RNASEH2B | 125.1 | 0.94 | 0.84 | Aicardi-Goutieres syndrome 2 | 610181 |
RNASEH2C | 207.6 | 0.99 | 0.97 | Aicardi-Goutieres syndrome 3 | 610329 |
RNF168 | 261.8 | 1 | 0.98 | RIDDLE syndrome, | 611943 |
RNF31 | 165.8 | 0.99 | 0.97 | No OMIM phenotype | 611943 |
RNF31 | 165.8 | 0.99 | 0.97 | Autoinflammation, immunodeficiency, amylopectinosis and lymphangiectasia (Boisson -2015 J Exp | 611943 |
RNF31 | 165.8 | 0.99 | 0.97 | Med 212,939) | 611943 |
RPSA | 89.8 | 1 | 0.99 | Asplenia, isolated congenital, | 271400 |
RSPH9 | 150.8 | 0.99 | 0.98 | Ciliary dyskinesia, primary, 12 | 612650 |
RTEL1 | 127.4 | 0.99 | 0.96 | Dyskeratosis congenita, autosomal dominant 4 | 615190 |
RTEL1 | 127.4 | 0.99 | 0.96 | Dyskeratosis congenita, autosomal recessive 5 | 615190 |
RTEL1 | 127.4 | 0.99 | 0.96 | Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 | 616373 |
SAMHD1 | 149.9 | 0.99 | 0.98 | Aicardi-Goutieres syndrome 5 | 612952 |
SAMHD1 | 149.9 | 0.99 | 0.98 | ?Chilblain lupus 2 | 614415 |
SBDS | 210.4 | 0.99 | 0.99 | Shwachman-Diamond syndrome, | 260400 |
SBDS | 210.4 | 0.99 | 0.99 | {Aplastic anemia, susceptibility to}, | 609135 |
SERAC1 | 125.5 | 0.98 | 0.94 | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, | 614739 |
SERPING1 | 103.7 | 0.98 | 0.94 | Angioedema, hereditary, types I and II, | 106100 |
SERPING1 | 103.7 | 0.98 | 0.94 | Complement component 4 partial deficiency of, | 120790 |
SH2D1A | 137.5 | 0.9 | 0.89 | Lymphoproliferative syndrome, X-linked, 1 | 308240 |
SKIV2L | 26.9 | 0.8 | 0.57 | Trichohepatoenteric syndrome 2 | 614602 |
SLC29A3 | 226.4 | 0.99 | 0.99 | Histiocytosis-lymphadenopathy plus syndrome, | 602782 |
SLC35A1 | 146 | 0.99 | 0.97 | Congenital disorder of glycosylation, type IIf, | 603585 |
SLC35C1 | 230 | 0.99 | 0.97 | Congenital disorder of glycosylation, type IIc, | 266265 |
SLC37A4 | 141 | 1 | 0.99 | Glycogen storage disease Ib, | 232220 |
SLC37A4 | 141 | 1 | 0.99 | Glycogen storage disease Ic, | 232240 |
SLC39A4 | 88.4 | 0.99 | 0.96 | Acrodermatitis enteropathica, | 201100 |
SLC46A1 | 105.4 | 0.98 | 0.94 | Folate malabsorption, hereditary, | 229050 |
SMARCAL1 | 148.2 | 1 | 0.99 | Schimke immunoosseous dysplasia, | 242900 |
SOCS4 | 303.4 | 0.99 | 0.97 | No OMIM phenotype | 242900 |
SP110 | 147.2 | 0.99 | 0.99 | Hepatic venoocclusive disease with immunodeficiency, | 235550 |
SP110 | 147.2 | 0.99 | 0.99 | {Mycobacterium tuberculosis, susceptibility to}, | 607948 |
SPINK5 | 170.1 | 0.99 | 0.96 | Atopy, | 147050 |
SPINK5 | 170.1 | 0.99 | 0.96 | Netherton syndrome, | 256500 |
STAT1 | 151.4 | 0.97 | 0.95 | Immunodeficiency 31A, mycobacteriosis, autosomal dominant, | 614892 |
STAT1 | 151.4 | 0.97 | 0.95 | ncy 31B, mycobacterial and viral infections, autosomal recessive, | 613796 |
STAT1 | 151.4 | 0.97 | 0.95 | Immunodeficiency 31C, autosomal dominant, | 614162 |
STAT2 | 126.6 | 1 | 0.99 | Immunodeficiency 44 | 616636 |
STAT3 | 141 | 0.99 | 0.98 | Autoimmune disease, multisystem, infantile-onset, | 615952 |
STAT3 | 141 | 0.99 | 0.98 | Hyper-IgE recurrent infection syndrome, | 147060 |
STAT4 | 178.7 | 0.99 | 0.97 | {Systemic lupus erythematosus, susceptibility to, 11}, | 612253 |
STAT5B | 141.7 | 0.99 | 0.96 | Growth hormone insensitivity with immunodeficiency, | 245590 |
STAT5B | 141.7 | 0.99 | 0.96 | Leukemia, acute promyelocytic, somatic, | 102578 |
STAT6 | 128.1 | 1 | 0.99 | No OMIM phenotype | 102578 |
STAT6 | 128.1 | 1 | 0.99 | {Schistosomiasis infection, association with} (He -2008 Genes Immun 9 195) | 102578 |
STAT6 | 128.1 | 1 | 0.99 | {Atopic asthma, association with} (Gao -2004 J Med Genet 41,535) | 102578 |
STIM1 | 143.1 | 0.99 | 0.96 | Immunodeficiency 10 | 612783 |
STIM1 | 143.1 | 0.99 | 0.96 | Myopathy, tubular aggregate, 1 | 160565 |
STIM1 | 143.1 | 0.99 | 0.96 | Stormorken syndrome, | 185070 |
STK4 | 161.5 | 0.99 | 0.98 | T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations, | 614868 |
STX11 | 303 | 1 | 1 | Hemophagocytic lymphohistiocytosis, familial, 4 | 603552 |
STXBP2 | 134.6 | 0.99 | 0.98 | Hemophagocytic lymphohistiocytosis, familial, 5 | 613101 |
TAP1 | 12.3 | 0.51 | 0.15 | Bare lymphocyte syndrome, type I, | 604571 |
TAP2 | 15 | 0.58 | 0.25 | Bare lymphocyte syndrome, type I, due to TAP2 deficiency, | 604571 |
TAP2 | 15 | 0.58 | 0.25 | Wegener-like granulomatosis | 604571 |
TAPBP | 22.6 | 0.8 | 0.52 | Bare lymphocyte syndrome, type I, | 604571 |
TAZ | 126.3 | 1 | 0.98 | Barth syndrome, | 302060 |
TBX1 | 86.7 | 0.77 | 0.66 | Conotruncal anomaly face syndrome, | 217095 |
TBX1 | 86.7 | 0.77 | 0.66 | DiGeorge syndrome, | 188400 |
TBX1 | 86.7 | 0.77 | 0.66 | Tetralogy of Fallot, | 187500 |
TBX1 | 86.7 | 0.77 | 0.66 | Velocardiofacial syndrome, | 192430 |
TCIRG1 | 125.6 | 0.95 | 0.88 | Osteopetrosis, autosomal recessive 1 | 259700 |
TCN2 | 192.4 | 1 | 1 | Transcobalamin II deficiency, | 275350 |
TCN2 | 192.4 | 1 | 1 | TERC NC NC NC Dyskeratosis congenita, autosomal dominant 1 | 127550 |
TCN2 | 192.4 | 1 | 1 | {Aplastic anemia}, | 614743 |
TCN2 | 192.4 | 1 | 1 | {Pulmonary fibrosis, idiopathic, susceptibility to}, | 614743 |
TERT | 148.3 | 0.96 | 0.91 | {Dyskeratosis congenita, autosomal dominant 2}, | 613989 |
TERT | 148.3 | 0.96 | 0.91 | {Dyskeratosis congenita, autosomal recessive 4}, | 613989 |
TERT | 148.3 | 0.96 | 0.91 | {Leukemia, acute myeloid}, | 601626 |
TERT | 148.3 | 0.96 | 0.91 | {Melanoma, cutaneous malignant, 9}, | 615134 |
TERT | 148.3 | 0.96 | 0.91 | {Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1}, | 614742 |
TFRC | 177.7 | 0.99 | 0.99 | Immunodeficiency 46 | 616740 |
THBD | 123 | 0.99 | 0.97 | Thrombophilia due to thrombomodulin defect, | 614486 |
THBD | 123 | 0.99 | 0.97 | {Hemolytic uremic syndrome, atypical, susceptibility to, 6}, | 612926 |
TICAM1 | 113.2 | 0.99 | 0.99 | {Herpes simplex encephalitic, susceptibility to, 6}, | 614850 |
TINF2 | 196.8 | 1 | 0.99 | Dyskeratosis congenita, autosomal dominant 3 | 613990 |
TINF2 | 196.8 | 1 | 0.99 | Revesz syndrome, | 268130 |
TLR3 | 189.9 | 0.98 | 0.97 | {Herpes simplex encephalitis, susceptibility to, 2} | 613002 |
TLR3 | 189.9 | 0.98 | 0.97 | {HIV1 infection, resistance to}, | 609423 |
TLR4 | 147.5 | 0.99 | 0.98 | Endotoxin hyporesponsiveness | 609423 |
TLR4 | 147.5 | 0.99 | 0.98 | {Colorectal cancer, susceptibility to}, | 114500 |
TLR4 | 147.5 | 0.99 | 0.98 | {Macular degeneration, age-related, 10}, | 611488 |
TMC6 | 88 | 0.99 | 0.96 | Epidermodysplasia verruciformis, | 226400 |
TMC8 | 119 | 0.97 | 0.92 | Epidermodysplasia verruciformis, | 226400 |
TMEM173 | 102.7 | 0.99 | 0.96 | STING-associated vasculopathy, infantile-onset, | 615934 |
TNFRSF11A | 144.8 | 0.93 | 0.91 | Osteolysis, familial expansile, | 174810 |
TNFRSF11A | 144.8 | 0.93 | 0.91 | Osteopetrosis, autosomal recessive 7 | 612301 |
TNFRSF11A | 144.8 | 0.93 | 0.91 | {Paget disease of bone 2 early-onset}, | 602080 |
TNFRSF13B | 115 | 1 | 0.99 | Immunodeficiency, common variable, 2 | 240500 |
TNFRSF13B | 115 | 1 | 0.99 | Immunoglobulin A deficiency 2 | 609529 |
TNFRSF13C | 59.2 | 0.93 | 0.75 | Immunodeficiency, common variable, 4 | 613494 |
TNFRSF1A | 104.1 | 0.91 | 0.88 | Periodic fever, familial, | 142680 |
TNFRSF1A | 104.1 | 0.91 | 0.88 | {Multiple sclerosis, susceptibility to, 5}, | 614810 |
TNFRSF4 | 68.3 | 0.98 | 0.91 | ?Immunodeficiency 16 | 615593 |
TPP2 | 143.4 | 0.98 | 0.94 | No OMIM phenotype | 615593 |
TRAF3 | 142.2 | 0.99 | 0.98 | {?Herpes simplex encephalitis, susceptibility to, 3}, | 614849 |
TRAF3IP2 | 135 | 0.99 | 0.96 | ?Candidiasis, familial, 8 | 615527 |
TRAF3IP2 | 135 | 0.99 | 0.96 | {Psoriasis susceptibility 13}, | 614070 |
TREX1 | 272.2 | 1 | 1 | Aicardi-Goutieres syndrome 1 dominant and recessive, | 225750 |
TREX1 | 272.2 | 1 | 1 | Chilblain lupus, | 610448 |
TREX1 | 272.2 | 1 | 1 | Vasculopathy, retinal, with cerebral leukodystrophy, | 192315 |
TREX1 | 272.2 | 1 | 1 | {Systemic lupus erythematosus, susceptibility to}, | 152700 |
TRNT1 | 111.2 | 0.95 | 0.9 | Retinitis pigmentosa and erythrocytic microcytosis, | 616959 |
TRNT1 | 111.2 | 0.95 | 0.9 | Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, | 616084 |
TTC37 | 139 | 0.99 | 0.97 | Trichohepatoenteric syndrome 1 | 222470 |
TTC7A | 122.3 | 0.99 | 0.97 | Gastrointestinal defects and immunodeficiency syndrome, | 243150 |
TYK2 | 127.5 | 0.99 | 0.98 | Immunodeficiency 35 | 611521 |
UNC119 | 105.1 | 0.97 | 0.89 | ?Cone-rod dystrophy | 611521 |
UNC119 | 105.1 | 0.97 | 0.89 | ?Immunodeficiency 13 | 615518 |
UNC13D | 104.1 | 0.99 | 0.97 | Hemophagocytic lymphohistiocytosis, familial, 3 | 608898 |
UNC93B1 | 71.1 | 0.57 | 0.54 | {Herpes simplex encephalitis, susceptibility to, 1}, | 610551 |
UNG | 76.6 | 0.99 | 0.95 | Immunodeficiency with hyper IgM, type 5 | 608106 |
USB1 | 144.5 | 0.99 | 0.97 | Poikiloderma with neutropenia, | 604173 |
VPS13B | 156.8 | 0.98 | 0.96 | Cohen syndrome, | 216550 |
VPS45 | 143.4 | 0.96 | 0.94 | Neutropenia, severe congenital, 5 autosomal recessive, | 615285 |
WAS | 68.7 | 0.87 | 0.78 | Neutropenia, severe congenital, X-linked, | 300299 |
WAS | 68.7 | 0.87 | 0.78 | Thrombocytopenia, X-linked, | 313900 |
WAS | 68.7 | 0.87 | 0.78 | Thrombocytopenia, X-linked, intermittent, | 313900 |
WAS | 68.7 | 0.87 | 0.78 | Wiskott-Aldrich syndrome, | 301000 |
WIPF1 | 94 | 0.99 | 0.98 | ?Wiskott-Aldrich syndrome 2 | 614493 |
WRAP53 | 164.3 | 1 | 1 | Dyskeratosis congenita, autosomal recessive 3 | 613988 |
XIAP | 126.2 | 0.91 | 0.87 | Lymphoproliferative syndrome, X-linked, 2 | 300635 |
ZAP70 | 212.4 | 0.99 | 0.99 | Autoimmune disease,multisystem,infantile-onset,2, | 617006 |
ZAP70 | 212.4 | 0.99 | 0.99 | Immunodeficiency 48,26984 | 617006 |
ZBTB24 | 191.3 | 1 | 1 | Immunodeficiency-centromeric instability-facial anomalies syndrome-2, | 614069 |