C0001175

Acquired Immunodeficiency Syndrome

HCP5, ZNRD1, PPP1R11

C0001768

Agammaglobulinemia

LRRC8A

C0002390

Extrinsic Allergic Alveolitis

SOD2

C0002792

Anaphylaxis

KNG1

C0002880

Autoimmune Hemolytic Anemia

SLC14A1

C0002994

Angioedema

IFT43, ALB, HLA-DQB1, HLA-DRB1, PLAT

C0003873

Rheumatoid Arthritis

ABCC5, CDK6, ABCC4, TXNIP, B3GNT2, PHTF1, OS9, TAGAP, CRP, HAPLN1, CTGF, CTSD, CLYBL, DHFR, ACAN, DPP4, RCAN1, AHR, ENO1, F2, RTKN2, FCGR2A, JAZF1, FKBP5, PLCL2, TNPO3, PADI4, ALOX5, PHF19, GART, PTPN22, GC, RGMB, GRK6, CXCL2, HCLS1, ANXA3, HLA-DQA2, HLA-DRB1, HOXD10, HSD11B1, IGFBP3, CYR61, IL1B, IL1RN, IL6, IL6R, IL6ST, CXCL8, IL10, IL18, IRAK1, ITGA6, AFF3, LCN2, MARCKS, STS, MIF, MMP2, MMP10, MPO, MTF1, MTHFR, NCF2, NFKBIL1, TNFRSF11B, FOXP3, CD244, PON1, POU3F1, DDIT4, PXK, PRKCQ, BAIAP2L1, PTGS2, PTK2, PTPN2, PTPRC, RAP2A, REL, BGN, CCL8, CXCL6, BMP4, BMP6, SLC11A1, SOD2, SUOX, TLE3, TLR2, TMPO, TNF, TNFAIP2, TNFAIP3, TRAF1, VEGFA, CXCR4, DDA1, MMEL1, ANKRD55, TFPI2, CALD1, NR4A3, ST6GALNAC5, GDF5, ARID5B, MGARP, B3GNT9, PPIL4, CAV2, RUNX2, SLC25A12, RUNX1, GGH, C5orf30, GPRC5A, RABEP1, CD83, LHX2, ADIPOQ, CD28, FADS2

C0004096

Asthma

RAD50, CDK2, VAV3, KIF3A, ADCYAP1R1, WDR36, PARP1, ADRB2, SLC30A8, NQO1, DNAH5, DNMT1, EDN1, ERBB4, ALDH2, FBXL7, CRB1, ALOX5, GAB1, GSDMA, GSTM1, GSTP1, HLA-DPA1, HLA-DQA1, HLA-DQB1, HLA-DRB1, HLA-G, HMOX1, HNMT, HSD11B2, TNC, ICAM1, IL1B, IL1RN, IL6R, AREG, KRT19, SMAD3, MMP9, MMP10, PBX2, KLHL5, PDE4D, PLAU, GSDMB, PSAP, PTEN, BCL2, RORA, BGLAP, CCL2, CCL5, IKZF4, PMEL, SLC22A5, SPRR2B, TGFB1, TIMP3, TLR1, TNF, TNS1, VEGFA, PLA2G7, IL18R1, IL33, IL1RL1, CD14, CXCL14

C0004364

Autoimmune Diseases

COPA, F8, FCGR2B, PTPN22, HMGCR, HP, FAS, IL6, PECAM1, PF4, B2M, SOD2, STAT3, C1S, C4B, CD28, CD40LG

C0006413

Burkitt Lymphoma

BBC3, SALL3, ID3, MYC, PBX1, PC, PIK3R1, SMARCA4, TCF3, ARID1A

C0007795

Diffuse Cerebral Sclerosis Of Schilder

POLG

C0007965

Chediak-Higashi Syndrome

LYST

C0009447

Common Variable Immunodeficiency

NFKB1, PRKCD, CD81, LRBA

C0011609

Drug Eruptions

CYP1A1, CYP2E1, ALOX5, HLA-B, HLA-DQB1, APOA1, APOC3, IL18, KNG1, MPO, MTHFR, C4B, TTR

C0011615

Dermatitis, Atopic

KIF3A, CCDC80, HLA-B, IL1B, IL6, IL10, PBX2, PPARA, RNF111, MAPK8, EMSY, S100A8, CCL5, GPSM3, SELE, SLC11A1, TNXB, IL18R1, VNN1, IL33

C0011854

Diabetes Mellitus, Insulin-Dependent

SH2B3, PHTF1, CHRM2, GAB3, CRP, CTSH, DDIT3, GLIS3, ERBB3, PRKD2, PTPN22, HLA-DQA1, HLA-DQB1, HLA-DRA, HLA-DRB1, HP, HSD11B2, IGF1, IGF2, IL10, INS, ITPR3, KCNJ11, CENPW, NOS3, PAX4, FOXP3, PGM1, MEG3, GSDMB, PRKCQ, PTPN2, BACH2, CCL20, IKZF4, SLC11A1, ZFP36L1, STAT3, HNF1A, TNF, NAA25, SKAP2, AIFM1

C0013182

Drug Allergy

POSTN, ADORA1, CYP2C9, ACE, GSTM1, GSTP1, HLA-B, HLA-DRB1, HNMT, HSPA1A, HSPA1L, IL10, PTGER3, PTGS1, TNF

C0013374

Dysgammaglobulinemia

IGKC

C0014072

Experimental Autoimmune Encephalomyelitis

PPARA, CBLB

C0014518

Toxic Epidermal Necrolysis

HLA-B

C0016470

Food Allergy

SLC11A1

C0017531

Angiolymphoid Hyperplasia

IL6

C0017661

Iga Glomerulonephritis

ABI1, PDCD6IP, SMC4, ACTR2, KIF20A, NAMPT, G3BP1, ATP6AP2, LHFPL2, PSME3, ADAM10, STX6, CDKN3, TFG, NDC80, LYPLA1, VAV3, GPNMB, MERTK, HMGN4, SLC9A6, SEC23A, SYNCRIP, ARL6IP5, ARFGEF2, CENPA, ST6GALNAC2, CENPF, CELF2, HPSE, NMU, TMED2, ASCC3, RAB32, METAP2, GLIPR1, CHEK1, ZWINT, DUSP10, VSIG4, OIP5, OSBPL11, SSX2IP, CSF1R, CTSS, CYBB, ADSS, ACE, DDX3X, AGL, DOCK2, DSC2, AGT, DSP, GPR183, ECT2, ABCA1, EIF2S1, EREG, EVI2A, EVI2B, EZH2, ACSL1, TFEC, PHLDA1, RAB11FIP2, TPX2, FOXM1, PDS5A, SMCHD1, DICER1, ICMT, MMD, CORO1C, KIF4A, FUT4, YTHDF3, GALK2, GALNT1, ASPM, SAMHD1, HIGD1A, SERBP1, PTPN22, GBE1, TNFRSF21, GNS, SNX24, SLC43A3, ATAD2, RACGAP1, MSH6, FAM216A, ALG6, ERO1A, H2AFZ, HCLS1, CFH, CFHR1, ANXA5, HLA-DPB2, HLA-DQB1, AOAH, HMMR, HMOX1, HSPA4, BIRC5, APOC1, IFNGR1, IGFBP1, IMPA1, ITGA2, ITGAM, ITGAX, ITGB2, KIF11, KPNA2, RHOA, LAIR1, LCP1, LIF, LIPA, LMNB1, CAPRIN1, MARCKS, MAD2L1, MAN1A1, MAN2B1, MAT2A, MBNL1, ME2, MKI67, MMP1, MMP9, MNDA, TRIM37, MYO5A, NCF2, NID1, NRAS, ATP2B1, OLR1, SERPINE1, PCNA, NUSAP1, ERGIC2, MS4A4A, TEX264, CRLF3, DTL, AZIN1, SELT, CAB39, CMPK1, RAB8B, GALNT7, PGGT1B, SLC25A3, ATP6V1B2, PIK3CA, PLAU, PLOD2, POLE3, EURL, DNAJC10, FAM64A, FAM105A, ZCCHC2, PARPBP, PPP1R2, ARMC1, RFWD3, CEP55, RPRD1A, APPL2, FANCI, NEIL3, TMEM100, HJURP, ETNK1, SRGN, ANKRD10, DOCK10, NDC1, ENAH, TMEM30A, CENPN, PBK, MAPK1, PRNP, PSAP, PSEN1, SLAMF8, ARNTL2, PSMB8, KIF15, CCNL1, PTEN, SPC25, PTHLH, PTPRC, PTX3, ARHGAP22, BCAT1, RAB27A, RAD51, RARS, RASA1, RB1, RECQL, RGS4, RNASE2, ABCE1, RRM2, SAT1, MCUR1, SELE, SELL, SAMSN1, SLC39A8, NCAPG, MFSD1, MARCH7, SLC1A3, TMEM135, SLC20A1, SOX15, SSR1, NEK4, AURKA, MAP3K7, BUB1, BUB1B, TFPI, TGFB1, TGFBI, TIMP1, TLR1, TLR2, TLR4, TMPO, C1QA, TOP2A, TTK, C5AR1, TYMS, TYROBP, UBE2D3, UCP2, UGCG, YWHAH, YWHAZ, PTP4A1, LAPTM5, SLBP, ELOVL6, PLA2G7, AKIRIN1, PLEKHF2, CENPU, TBL1XR1, ADAM12, FOSL1, NPL, CDK2AP1, SLC7A5, YIPF5, COL21A1, VMP1, KIF18A, CANX, ITCH, DYRK2, CUL4B, GAS7, AGPS, CBFB, TNFSF13, ADAM9, IQGAP1, CCNB1, TIMELESS, KYNU, ACVR1, PSTPIP2, PRC1, CD1D, CCNB2, OSMR, CD4, DCLK1, AURKB, PTTG1, CD14, ZNHIT3, CD163, TM9SF2, CHST2, CD36, KIF23, ADAMTS1, LITAF, MPDU1, H2AFY, MINPP1, APOBEC3B, CD44, CD53, KIAA0101, DLGAP5, ARHGAP11A, CDK1, MELK, GINS1, TLK1, CDC20, LPGAT1, KIF14

C0017662

Glomerulonephritis, Membranoproliferative

ALB, CFH, PON1, C1QA

C0017665

Membranous Glomerulonephritis

ALB, GAA, HLA-DQA1, HLA-DRB1, APOA1

C0018133

Graft-Vs-Host Disease

MTHFR

C0018203

Chronic Granulomatous Disease

CYBB, G6PD, NCF2, NCF4

C0018213

Graves Disease

B3GNT2, ABCF1, PTPN22, GC, HLA-J, ITPR3, ZNRD1ASP, ARID5B, RNASET2

C0018378

Guillain-Barre Syndrome

PMP22

C0018621

Hay Fever

VAV3, GSDMA, SMAD3, TLR1, TNS1, IL1RL1

C0019243

Angioedemas, Hereditary

KNG1, SERPING1

C0019693

HIV Infections

ALYREF, PSME3, NUTF2, CDKN1A, SIGMAR1, EMG1, CCT7, HSPH1, SF3A3, COPS6, RAB32, CLIC1, GADD45A, EIF4A1, EIF4EBP1, ALB, PSME4, GTF3A, HDGF, CD209, HLA-B, HLA-C, HP, BIRC3, HSPB1, HSP90AA1, HSP90AB1, HSPD1, APOA1, IL4R, IL10, ILF2, EIF6, KPNB1, ARHGDIA, ARHGDIB, LYN, MAZ, MBL2, MDM2, NUP88, ODC1, SERPINA1, PPIB, PSMA4, PSMB4, PSMB10, PSMC3, PSMD3, PTCH1, BAX, RANBP1, CCL2, CCL3, CXCL12, SFPQ, SRSF1, ARAP3, SLC11A1, SNRPD3, CCT3, DNAJC7, YY1, GRPEL1, EIF3B, SRSF9, RAB11B, CD28, CDC42

C0019699

HIV Seropositivity

ALB

C0019829

Hodgkin Disease

MTHFD2, GSTP1, PVT1, REL, CLSTN2, TCF3, CFLAR, TNFRSF8

C0020305

Hydrops Fetalis

CCBE1

C0020455

Hypergammaglobulinemia

B2M

C0020517

Hypersensitivity

SPON2, COMMD1, CYP1A1, ALB, ABCF1, CXCL1, HLA-B, HLA-DQA1, HLA-DQB1, HLA-DRB1, HLA-DRB4, HLA-DRB5, HP, IL1B, IL1R1, IL5RA, IL6, IL6ST, IL18, ITGB2, KNG1, MTHFR, MYLK, PF4, PPBP, MAP2K6, CCL2, CCL3, CCL4, CCL8, CCL20, CXCL5, SPP1, TGFB1, TNF, TNFRSF1B, IL1R2, CASP1, CD40LG

C0020522

Delayed Hypersensitivity

ALB

C0020523

Immediate Hypersensitivity

IL10, IL18, PLA2G7, IL33

C0020951

Immune Complex Diseases

MASP2, C1QA

C0020981

Angioimmunoblastic Lymphadenopathy

IDH2, RHOA

C0021051

Immunologic Deficiency Syndromes

DNMT3B, CFH, LEPR, EPG5, C3, C4A, CACNA1C, CD36

C0021053

Immune System Diseases

EIF2AK4, POMC

C0023434

Chronic Lymphocytic Leukemia

TOPBP1, QPCT, PRKD2, POT1, IPCEF1, HLA-DQA1, SP110, IGHG1, FAS, IL6, MTHFR, PMAIP1, PPP2R5C, MYNN, PTGS2, GRAMD1B, ACTA2, BCL2, TFRC, TP53, VDR, CLPTM1L, CAMK2D, KLRC4, CASP8, TNFSF11, TNFRSF11A, FARP2

C0023443

Hairy Cell Leukemia

MAP2K1

C0023448

Lymphoid Leukemia

POT1, IPCEF1, CLPTM1L

C0023452

Leukemia, Lymphocytic, Acute, L1

IKZF1, SLCO3A1, PTPRJ, ZNF230, ARID5B

C0023485

Precursor B-Cell Lymphoblastic Leukemia-Lymphoma

IKZF1, CTGF, MGA, ATF7IP, STAT3, TCF3, RUNX1

C0023492

Leukemia, T-Cell

LMO2, NOTCH1, PTPN2, STAT3

C0023493

Adult T-Cell Lymphoma/Leukemia

CSNK1A1, GPR183, FYN, HNRNPA2B1, BIRC5, IL10, FOXP3, PRKCB, BMP6, STAT3, VAV1, CD28

C0024141

Lupus Erythematosus, Systemic

SH2B3, CDKN1B, IKZF1, CLU, SLC15A4, CREBL2, CRP, CSK, ETS1, FCGR2A, FCGR2B, JAZF1, ANKS1A, TNPO3, PTPN22, FAM98B, ANXA3, HIP1, HLA-DQA1, HLA-DRB1, IL6, IL10, ITGAM, ITGAX, PXK, PRL, PTGS2, PHRF1, CFB, TLR5, C1QA, TNFAIP3, TNXB, C4A, TNFSF4, DDA1, KIAA0319L, ARID5B

C0024143

Lupus Nephritis

SLC5A11, FCGR3B, MMP2, MMP9, NIN, SERPING1

C0024299

Lymphoma

CDKN2B, IKZF1, EPHX1, KRAS, MLH1, MTHFR, MTR, NOTCH1, NRAS, PON1, PTEN, PTGER4, TWF1, RAC2, ZFP91

C0024301

Lymphoma, Follicular

CREBBP, EZH2, HLA-DRB1, LPP, MTHFR, MTR, GRAMD1B, PVT1, BCL2, BCL6, TNFAIP3, TYMS, BCL10

C0024305

Lymphoma, Non-Hodgkin

CYP2E1, EPHX1, RAD54B, HLA-DRB1, MTHFR, BCL2, BCL6, SHMT1, TFRC, TP53, TYMS, RAD54L, CBS

C0024312

Lymphopenia

IL1B

C0026764

Multiple Myeloma

CDH12, PARP1, NQO1, EPHX1, CBX7, GSTT1, HLA-A, HSPB1, IL6, MCL1, MUC1, ULK4, MYNN, PTHLH, BCL2, CCL2, BNIP3, SOD2, SPARC, BTG1, LCOR, DNAH11

C0026769

Multiple Sclerosis

CD24, SAE1, MPHOSPH9, DLEU1, MERTK, TAGAP, CNR1, CYP27B1, KIF1B, SUMF1, HLA-DQB1, HLA-DRA, HLA-DRB1, HLA-F, ICAM1, APOE, IL1B, IL7R, IL12A, MCAM, ODF3B, TIMMDC1, POMC, AHI1, MYNN, MAPK1, ZMIZ1, HACE1, PTPRC, PVR, RNASEL, BACH2, SELE, CLSTN2, SLC11A1, SLC15A2, ZFP36L1, STAT3, SYK, TNFAIP3, VCAM1, ZNF767P, PRKRA, CBLB, CD6, ARHGEF10, CD58

C0026896

Myasthenia Gravis

PTPN22, HLA-B, FAS, MUSK, POMC, CFB, TNFRSF11A

C0026948

Mycosis Fungoides

TNFRSF1B

C0030805

Bullous Pemphigoid

HLA-DQB1, HLA-DRB1, CXCL8

C0030807

Pemphigus

C3

C0031306

Phagocyte Bactericidal Dysfunction

G6PD

C0034152

Henoch-Schoenlein Purpura

PLAU, C3

C0035228

Respiratory Hypersensitivity

SLC39A14, CXCL1, HRH1, HSPA5, IL6, SERPINE1, SLC39A4, CCL8, TLR4, TNF, UPP1

C0035457

Rhinitis, Allergic, Perennial

ALB

C0036830

Serum Sickness

ALB

C0036920

Sezary Syndrome

CDKN1B, CREBBP, MAPK1, PTEN, KMT2C, RB1, RPS6KA1, SMARCA4, ZEB1, TNFRSF1B, TP53, ARID1A, BCL10, IL32

C0038325

Stevens-Johnson Syndrome

IKZF1, CELF2, PARP1, CTNNB1, EP300, ALB, HLA-A, HLA-B, HLA-C, MIF, NUCB1, PTGER3, PTGIS, RB1, VCP, CUL4A, CAV1, ELMO1, RBX1

C0039483

Giant Cell Arteritis

PTPN22

C0042109

Urticaria

ALB, ALOX5, GSTM1, HLA-DQB1, HLA-DRB1, HNMT, ICAM1, IL1B, IL18, MPO, SELE, TGFB1, TNF, VCAM1

C0079731

B-Cell Lymphomas

NRAS, PTGS2

C0079744

Diffuse Large B-Cell Lymphoma

PRDX4, TXNIP, EZH2, SEC31A, HLA-B, FAS, PIK3CA, PIK3CB, PIK3CD, PIK3CG, B2M, PVT1, BCL2, ARAP3, NOM1, SKP2, SOD2, SOD3, CDK1

C0079770

Lymphoma, Small Noncleaved-Cell

MYC

C0079772

T-Cell Lymphoma

DDX3X, EP300, MGA, RHOA, PPARG, BCL6, STAT3, STAT5B, TP53, ARID1A

C0079773

Lymphoma, T-Cell, Cutaneous

FAS, RHOA, MCL1, PRKCQ, BAX, STAT5B, ZEB1, TNFAIP3, TP53, ARID1A, CD28

C0079774

Peripheral T-Cell Lymphoma

FYN, IDH2, RHOA, B2M, CD28, CD58

C0079840

Milk Hypersensitivity

FAM117A

C0085110

Severe Combined Immunodeficiency

ADA, IL7R, JAK3, RAG1, DCLRE1C, TFRC

C0086445

Idiopathic Membranous Glomerulonephritis

EHMT2, DXO, HLA-DQA1, POU5F1, TCF19, PRRC2A, EGFL8

C0162526

Aids-Related Opportunistic Infections

CD4

C0162820

Dermatitis, Allergic Contact

NAMPT, PRDX4, CTSC, FGL2, RAB32, CREM, CYP1A1, ETS2, F13A1, FCGR3B, PHLDA1, ABCA6, FYB, QPCT, IPCEF1, CXCL2, HSD11B1, IL1A, IL10, ITGAM, MXD1, MEOX1, MRC1, CNTN3, PLAT, BCL2, SAT1, SELE, ST6GAL1, SLC2A3, BMP6, SPP1, STAC, TNF, TNFAIP6, UPP1, ASRGL1, SLC7A5, CASP8, KMO, SOCS1, SOCS2, TMSB10, IL32, CD36

C0205710

Alpers Syndrome (Disorder)

POLG

C0206180

Ki-1+ Anaplastic Large Cell Lymphoma

HSP90AA1, STAT3, TWIST1

C0206182

Lymphomatoid Papulosis

NPM1

C0241910

Hepatitis, Autoimmune

CXCL1, IL6, IL10, IL18, LEP, CCL2, CCL5, TGFB1, C1S

C0242597

Leukocyte-Adhesion Deficiency Syndrome

ITGB2

C0242647

Mucosa-Associated Lymphoid Tissue Lymphoma

BCL10

C0242992

Multiple Chemical Sensitivity

SOD2

C0264423

Asthma, Occupational

CDH17, TENM3

C0268742

Membranoproliferative Glomerulonephritis, Type I

CFH

C0268743

Membranoproliferative Glomerulonephritis, Type Ii

CFH, CFHR1

C0272236

Hyperimmunoglobulin M Syndrome

UNG

C0334634

Malignant Lymphoma, Lymphocytic, Intermediate Differentiation, Diffuse

CTNNB1, EIF4E, EIF4EBP1, AK1, GSK3B, PIK3CD, WNT3, ARHGAP29

C0339143

Thyroid Associated Opthalmopathies

PTGS2, SCD

C0341106

Eosinophilic Esophagitis

RRP1B, EMSY, SHROOM3, CCDC81, TIMP2, CAPN5, ANKRD27, PLPP3

C0342731

Deficiency Of Mevalonate Kinase

MVK

C0343755

HIV Wasting Syndrome

IL1A, IL1B, IL6, TNF

C0393665

Multiple Sclerosis, Chronic Progressive

HNRNPA1

C0398689

Hyper-Igm Immunodeficiency Syndrome, Type 1

CD40LG