UMLS CUI |
UMLS Term |
Proteins |
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
|