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Diseases

UMLS CUI UMLS Term Proteins

C0398691

Hyperimmunoglobulinemia D

MVK

C0455988

Hydrops Fetalis, Non-Immune

DNAH14, HBA1, NEU1, GALNT14, FZD6

C0524988

Schnitzler Syndrome

IL1RN

C0549463

X-Linked Lymphoproliferative Disorder

XIAP

C0559469

Allergy To Eggs

SGCD

C0559470

Allergy To Peanuts

AHR

C0751674

Lymphangioleiomyomatosis

HES1, TSC2

C0751871

Autoimmune Diseases Of The Nervous System

MCAM

C0751967

Multiple Sclerosis, Relapsing-Remitting

HNRNPA1, APOE

C1136321

HIV-Associated Lipodystrophy Syndrome

LMNA

C1301362

Lymphoma, Primary Cutaneous Anaplastic Large Cell

NPM1

C1319853

Asthma, Aspirin-Induced

POSTN, PTGER2, PTGS2

C1328840

Autoimmune Lymphoproliferative Syndrome

FAS, NRAS, PRKCD, CASP8

C1522378

Leukemia, Large Granular Lymphocytic

STAT5B

C1527336

Sjogren'S Syndrome

IRAK1BP1, FCGR2A, GTF2I, IL12A, ITSN2, PHIP, TNFAIP3, PTTG1

C1720821

Membranoproliferative Glomerulonephritis, Type Iii

CFH

C1720958

Hyper-Igm Immunodeficiency Syndrome, Type 5

UNG

C1846545

Autoimmune Lymphoproliferative Syndrome Type 2B

CASP8

C1862892

Hereditary Angioedema Type Ii

SERPING1

C1956391

Temporal Arteritis

PTPN22

C1959626

Mevalonic Aciduria

MVK

C1961099

Precursor T-Cell Lymphoblastic Leukemia-Lymphoma

IL7R, LMO2, CNOT3, NOTCH1, PTPN2, BAX, RPL5, RPL10, TAL1, BCL10

C1961102

Precursor Cell Lymphoblastic Leukemia Lymphoma

CDK6, IKZF1, CYP1B1, NQO1, EPHX1, P2RY8, HLF, IDH1, ARNT, MTHFR, PIP4K2A, PAG1, RB1, BCR, SLC19A1, TCF3, TP53, WHSC1, CASP8, ARID5B, RUNX1

C1968689

Hyper-Immunoglobulin E Syndrome, Autosomal Recessive

DOCK8

C2607914

Allergic Rhinitis (Disorder)

ABCA1, LAMA3, RBFOX1, FTO, ENTPD6

C2700553

Omenn Syndrome

ADA, IL7R, CHD7, RAG1, DCLRE1C

C2717905

Hereditary Angioedema Types I And Ii

SERPING1, C1S

C2717906

Hereditary Angioedema Type I

SERPING1

C2936739

Hyper-Immunoglobulin E Syndrome, Autosomal Dominant

STAT3

C3495559

Juvenile Arthritis

PLK2, ADCY7, CLU, CREM, SIK1, CAMSAP1, DAPK1, GADD45A, DDIT3, HBEGF, DUSP1, DUSP2, EGR1, ZFC3H1, CTTN, C9orf72, FCGR1A, JMJD1C, R3HDM2, TNIK, STAB1, FOS, FOSB, FOSL2, MAFF, FOXP1, GMPR, GNG11, GP1BB, NEAT1, CXCL1, NRG1, HSPA6, IGF1R, IL1RN, AQP9, ITGB5, JUN, AREG, KRAS, LPP, SMAD3, MAP2, RERE, NR4A2, OLR1, MEX3C, MS4A4A, PER1, PLAUR, PLOD2, RBM47, ACPP, ETNK1, MAPK1, ZFAND3, HERPUD2, SLC2A3, SLC11A1, STAT3, TCF7L2, BTG1, TFDP1, TFPI, THBS1, TNFAIP6, TUBB2A, UBE2E1, RNF103, CXCR4, CALD1, NR4A3, NDEL1, MAD1L1, MAML2, AOPEP, MIR22HG, TNFRSF10C, CD14, CD83, KLF4, B4GALT5, PCYT1B, UBE3C, MTSS1, FCHSD2

C3495801

Granulomatosis With Polyangiitis

FCGR3B

C3887645

Job Syndrome

STAT3, DOCK8

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