C0001733

Afibrinogenemia

FGA, FGB, CFI

C0001768

Agammaglobulinemia

LRRC8A

C0001815

Primary Myelofibrosis

SH2B3, EZH2, JAK2, CALR

C0001824

Agranulocytosis

NQO2

C0002312

Alpha-Thalassemia

HBA1, HBB

C0002871

Anemia

SLC46A1, PARP1, AGT, GSR, SLC40A1, HP, IGF2, MTHFR, SLC25A37, PRL, PTH, HAMP, SOD2, TNF, TYMS

C0002874

Aplastic Anemia

NBN

C0002878

Anemia, Hemolytic

G6PD, GCLC, GPI, GSR, HBB, HMOX1, TPI1

C0002880

Autoimmune Hemolytic Anemia

SLC14A1

C0002882

Anemia, Hemolytic, Congenital Nonspherocytic

G6PD, TPI1

C0002888

Anemia, Megaloblastic

DHFR, MAOB

C0002893

Refractory Anemias

TNF

C0002895

Anemia, Sickle Cell

DHODH, HBB, HP, NPPB, BCL11A, TNF, UMPS, VCAM1, CAD, NPRL3

C0002896

Sideroblastic Anemia

SOD2, GDF15

C0005129

Bernard-Soulier Syndrome

GP1BB

C0005283

Beta Thalassemia

DHODH, HBB, LCN2, HAMP, TFR2, TFRC, UMPS, CAD

C0005699

Blast Phase

BCR

C0005779

Blood Coagulation Disorders

F2, F5, GGCX, GNAQ, HMOX1, SERPINC1, VKORC1

C0005818

Blood Platelet Disorders

PLA2G4A

C0005956

Bone Marrow Diseases

NQO2

C0006413

Burkitt Lymphoma

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

C0007965

Chediak-Higashi Syndrome

LYST

C0012236

Digeorge Syndrome

COMT, CRKL, GP1BB, TBX1, HIRA, UFD1L

C0012739

Disseminated Intravascular Coagulation

F2, SERPINC1

C0013374

Dysgammaglobulinemia

IGKC

C0013720

Ehlers-Danlos Syndrome

COL3A1

C0013902

Elliptocytosis, Hereditary

GYPC

C0015499

Factor V Deficiency

F5

C0015530

Factor Xiii Deficiency

F13A1, F13B

C0015625

Fanconi Anemia

ERCC4, FANCD2, FANCE, FANCB, FANCG, UBE2T, FANCI, FANCM, RAD51C, BRCA2, TNF

C0015702

Favism

G6PD

C0017531

Angiolymphoid Hyperplasia

IL6

C0018203

Chronic Granulomatous Disease

CYBB, G6PD, NCF2, NCF4

C0018939

Hematological Disease

ALAD, FAS, MTHFR, MTR, GAR1

C0019021

Hemoglobin C Disease

HBB

C0019034

Hemoglobin Sc Disease

HBB

C0019045

Hemoglobinopathies

HBB

C0019050

Hemoglobinuria, Paroxysmal

PIGT, PIGA

C0019061

Hemolytic-Uremic Syndrome

NQO1, ALB, IL1A, IL1B, IL6, TNF

C0019069

Hemophilia A

F8

C0019087

Hemorrhagic Disorders

GNAS

C0019829

Hodgkin Disease

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

C0020305

Hydrops Fetalis

CCBE1

C0020455

Hypergammaglobulinemia

B2M

C0020532

Hypersplenism

FAS

C0020640

Inherited Factor Ii Deficiency

F2

C0020981

Angioimmunoblastic Lymphadenopathy

IDH2, RHOA

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

C0023440

Acute Erythroblastic Leukemia

DHODH, EPOR, UMPS, CAD

C0023443

Hairy Cell Leukemia

MAP2K1

C0023448

Lymphoid Leukemia

POT1, IPCEF1, CLPTM1L

C0023452

Leukemia, Lymphocytic, Acute, L1

IKZF1, SLCO3A1, PTPRJ, ZNF230, ARID5B

C0023473

Myeloid Leukemia, Chronic

CRY1, MAPK14, ALOX5, GSTP1, HMMR, HSPA5, BIRC5, ARNTL, PER1, BCR, WT1, RUNX1

C0023480

Leukemia, Myelomonocytic, Chronic

PDGFRB

C0023481

Chronic Neutrophilic Leukemia

CSF3R

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

C0023510

Leukocyte Disorders

ITGB2

C0023518

Leukocytosis

CSF3R, IL1B

C0023530

Leukopenia

MTHFR, TPMT

C0024236

Lymphedema

FLT4

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

C0024790

Paroxysmal Nocturnal Hemoglobinuria

PIGA

C0025637

Methemoglobinemia

CYB5R3, HBA1, HBB

C0026691

Mucocutaneous Lymph Node Syndrome

FCGR2A, TECRL, CENPU, MED30

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

C0026948

Mycosis Fungoides

TNFRSF1B

C0027022

Myeloproliferative Disease

FGFR1, FGFR1OP2, JAK2, ATG2B, BCR, ZMYM2

C0027947

Neutropenia

DPYD, FCGR2B, IL1B, MTHFR, TPMT

C0030312

Pancytopenia

SLC46A1, DHFR, RPL27A

C0031306

Phagocyte Bactericidal Dysfunction

G6PD

C0032461

Polycythemia

EPOR, GH1, HBA1, HBB, JAK2

C0032463

Polycythemia Vera

HBA1, HBB, JAK2

C0033847

Pseudoxanthoma Elasticum

ENPP1, XYLT2

C0034152

Henoch-Schoenlein Purpura

PLAU, C3

C0034155

Purpura, Thrombotic Thrombocytopenic

TFPI

C0036202

Sarcoidosis

ANXA11, HLA-DRB1, IL18, SLC11A1, SOD2, TGFB1

C0036489

Sea-Blue Histiocyte Syndrome

APOE

C0036920

Sezary Syndrome

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

C0037889

Hereditary Spherocytosis

DHODH, UMPS, CAD

C0037997

Splenic Diseases

AHR

C0039445

Hereditary Hemorrhagic Telangiectasia

SMAD4

C0040015

Thrombasthenia

ITGB3

C0040028

Thrombocythemia, Essential

SH2B3, FGF2, JAK2, PDGFA, PDGFB, TGFB1, TP53, CALR

C0040034

Thrombocytopenia

ALB, FCGR2A, GP1BB, HLA-A, ITGB3, MTHFR, PECAM1, PF4, CYCS, XDH, WDR1

C0040100

Thymoma

CYLD, PBRM1, TP53, BAP1

C0042974

Von Willebrand Disease

VWF

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

C0085179

Eosinophilia-Myalgia Syndrome

HLA-DQA1, HLA-DRB1

C0162316

Iron Deficiency Anemia

TMPRSS6, SLC11A2, TFRC

C0206180

Ki-1+ Anaplastic Large Cell Lymphoma

HSP90AA1, STAT3, TWIST1