UMLS CUI |
UMLS Term |
Proteins |
C0000768
|
Congenital Abnormality
|
SLC31A1,
FMR1,
FOLR1,
NOTCH1,
KLF4
|
C0000786
|
Spontaneous Abortion
|
CRISP3,
FST,
IFI44,
SPAG5,
COL1A1,
COL1A2,
COL4A6,
COL5A1,
COL5A2,
COL6A1,
COL6A3,
COL13A1,
CYP1A1,
DHFR,
ECM2,
AGTR1,
EMP1,
FGF7,
MAPRE3,
FN1,
FLRT3,
FETUB,
GLS,
HSD17B1,
IGF1,
APOE,
IGF2,
IGFBP1,
IGFBP3,
IGFBP6,
IL1B,
IL5RA,
IL6,
IL11,
INHA,
ITGB4,
JAK2,
LAMA4,
LGALS3,
LIF,
ARNT,
MAP2,
MGAT2,
MGP,
MMP11,
MMP15,
MMP19,
MUC4,
NCAM1,
PAEP,
ACKR4,
PGF,
PCDHA3,
PRLR,
MMP26,
KLK10,
PTGIS,
PTHLH,
RBP4,
SERPINB3,
SERPINB4,
TFRC,
TGFB1,
TGFBI,
TGFBR1,
TIMP2,
TIMP3,
TNR,
TRAF1,
CSRNP3,
TNFSF13,
TNFSF10,
CD164,
CD163,
CD68
|
C0000809
|
Abortion, Habitual
|
F5
|
C0000821
|
Threatened Abortion
|
PIBF1
|
C0000832
|
Abruptio Placentae
|
MTHFD1,
NOS3
|
C0001125
|
Acidosis, Lactic
|
PDHA1,
PLAT
|
C0001126
|
Renal Tubular Acidosis
|
SLC4A4
|
C0001144
|
Acne Vulgaris
|
UBE2E1
|
C0001175
|
Acquired Immunodeficiency Syndrome
|
HCP5,
ZNRD1,
PPP1R11
|
C0001193
|
Apert Syndrome
|
FGFR2
|
C0001197
|
Acrodermatitis
|
SLC39A4
|
C0001206
|
Acromegaly
|
GH1,
GNAS,
IGF1,
AIP
|
C0001231
|
ACTH Syndrome, Ectopic
|
POMC
|
C0001349
|
Acute-Phase Reaction
|
ANG
|
C0001364
|
Massive Hepatic Necrosis
|
PRKDC
|
C0001418
|
Adenocarcinoma
|
CDKN1C,
RASSF1,
CKB,
CTGF,
CTNNB1,
CYP2A6,
CYP2E1,
CYP19A1,
CYP26A1,
DAPK1,
ACE,
DNMT1,
EEF2,
EGFR,
ENO1,
ERBB2,
ESR1,
ESR2,
EFEMP1,
FGF9,
GPX3,
PYCARD,
HOXA10,
APC,
HSPD1,
APOA1,
ID3,
APOE,
IL1B,
CXCL8,
KRAS,
KRT8,
MET,
MKI67,
MMP14,
MPP1,
NFKB1,
NOS3,
PAWR,
PCNA,
GHRL,
PGAM1,
PGR,
PHB,
SERPINA1,
PIK3CA,
PLAU,
PPARG,
PRKD1,
PRL,
AZGP1,
PTEN,
PTGS2,
KMT2C,
BCL2,
SMARCC1,
SOD2,
SPP1,
STAT3,
STAT5A,
STK11,
TCF7L2,
TGFB1,
TNF,
TP53,
TPM3,
CA2,
DDR1,
NCOA3,
ARID1A,
CASP8,
RUNX3,
SELENBP1
|
C0001430
|
Adenoma
|
CTNNB1,
CYP1B1,
SUZ12,
ALOX5,
GJA1,
APC,
IGF1,
KRAS,
TRPM7,
PRL,
PTMA,
BCL2,
SEPP1,
SLC19A1,
TP53,
TXNRD1,
AIP
|
C0001546
|
Adjustment Disorders
|
HDAC5
|
C0001614
|
Adrenal Cortex Diseases
|
POMC
|
C0001621
|
Adrenal Gland Diseases
|
CGA
|
C0001623
|
Adrenal Gland Hypofunction
|
CYP11A1
|
C0001624
|
Adrenal Gland Neoplasms
|
CTNNB1,
GNAS,
GNRH1,
GNRHR,
PRKACA,
PTGS2,
RB1,
TP53,
CDC42
|
C0001627
|
Congenital Adrenal Hyperplasia
|
CYP17A1,
CYP21A2,
HSD3B2,
AVPR2,
PRKAR1A,
PDE8B
|
C0001733
|
Afibrinogenemia
|
FGA,
FGB,
CFI
|
C0001768
|
Agammaglobulinemia
|
LRRC8A
|
C0001815
|
Primary Myelofibrosis
|
SH2B3,
EZH2,
JAK2,
CALR
|
C0001824
|
Agranulocytosis
|
NQO2
|
C0001828
|
Agricultural Workers' Diseases
|
PON1
|
C0001883
|
Airway Obstruction
|
PLAT,
PTGFR,
TFPI
|
C0001925
|
Albuminuria
|
ACE,
AGT,
GNAQ,
PYCARD,
IL6,
INS,
LEPR,
MIR155,
PTGS2,
SOD2,
TNF,
CASP1
|
C0001973
|
Alcoholic Intoxication, Chronic
|
MBNL2,
GPHN,
CHRNA5,
ADH1B,
COMT,
CYP2E1,
ALDH2,
FSHB,
GABBR1,
GATA4,
GHSR,
UTP20,
SERINC2,
LHB,
NPY2R,
RCBTB1,
SHBG,
SNCA,
TF
|
C0002063
|
Alkalosis
|
AGT
|
C0002066
|
Alkaptonuria
|
HGD
|
C0002170
|
Alopecia
|
PARP1,
BRD4,
AR,
MTHFR,
SRD5A2,
SUPV3L1,
VDR,
ZFP36
|
C0002171
|
Alopecia Areata
|
IKZF4,
ULBP3
|
C0002312
|
Alpha-Thalassemia
|
HBA1,
HBB
|
C0002382
|
Alveolar Bone Loss
|
ALPL,
TNFSF11
|
C0002390
|
Extrinsic Allergic Alveolitis
|
SOD2
|
C0002395
|
Alzheimer'S Disease
|
GPC6,
SPON1,
TOMM40,
CELF2,
CHRNA7,
OSBPL1A,
CLU,
TPP1,
NDUFAF6,
CR1,
CST3,
CTNNA2,
NKAIN2,
CYP2D6,
AP2A2,
ACE,
DMXL1,
BMPER,
DHCR24,
DPYSL2,
EIF2S1,
A2M,
ENO1,
ESR1,
F2,
PRRC2C,
ARC,
NCS1,
MTHFD1L,
AMFR,
PDE7B,
BIN1,
BZW2,
GSK3B,
HFE,
HMOX1,
APBB2,
APOC1,
IDE,
IGF1,
APOE,
IGF1R,
IGF2,
IGF2R,
APP,
IL1B,
INS,
INPP5D,
INSR,
LEP,
MAOB,
MAPT,
MPO,
MTHFR,
NOS3,
MS4A4A,
PLAU,
CYCS,
PPARG,
FRMD4A,
PRNP,
PSEN1,
PSEN2,
FMN2,
CASS4,
ARHGAP20,
BAX,
BCL2,
EXOC4,
BDNF,
BLMH,
CSMD1,
LINC01184,
SLC2A4,
SOD2,
SORL1,
TF,
TFAM,
TNF,
TPI1,
VEGFA,
PPP1R3B,
SAP30L,
ANKRD55,
PICALM,
MEGF10,
SPPL2A,
CRADD,
SQSTM1,
CACNA1G,
MPZL1,
CD33,
SLC4A8,
ELMO1
|
C0002452
|
Amelogenesis Imperfecta
|
FAM83H,
LTBP3
|
C0002453
|
Amenorrhea
|
CPB2,
CYP17A1,
CYP19A1,
FSHB,
PRL
|
C0002514
|
Amino Acid Metabolism, Inborn Errors
|
AHCY,
GCLC,
ALDH6A1,
EIF2AK4,
PRODH,
XPC,
SECISBP2,
SLC7A7
|
C0002622
|
Amnesia
|
SIGMAR1,
HRH3,
GNAI1,
GNAI3,
APP,
IL1A,
IL6,
NGF,
POMC,
PREP,
TRH
|
C0002624
|
Retrograde Amnesia
|
PREP
|
C0002726
|
Amyloidosis
|
APOE,
APP,
PSEN1,
TTR
|
C0002736
|
Amyotrophic Lateral Sclerosis
|
OPTN,
SIGMAR1,
OLFM4,
PPARGC1A,
ARAP2,
METTL21A,
DCTN1,
DPP6,
CENPV,
C9orf72,
ERBB4,
KIFAP3,
TARDBP,
FUS,
TNFRSF21,
ANG,
ANK3,
TBK1,
GSR,
GSTP1,
HNRNPA1,
HOXD10,
ITGA9,
LAMA3,
CHCHD10,
NEFH,
PFN1,
PLA2G4A,
PON1,
PTGS2,
ST3GAL3,
SLC1A2,
SLC6A1,
SOD2,
TIAM1,
TP53,
VCP,
SLC25A12,
INPP4B,
SQSTM1,
ARHGEF2,
VAPB,
B4GALT6,
CD40LG,
KIAA0513,
MATR3
|
C0002768
|
Congenital Pain Insensitivity
|
NGF,
NTRK1,
SCN9A
|
C0002792
|
Anaphylaxis
|
KNG1
|
C0002793
|
Anaplasia
|
HIF1A
|
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
|
C0002902
|
Anencephaly
|
MTHFR
|
C0002938
|
Aneuploidy
|
KIF11
|
C0002940
|
Aneurysm
|
MMP1
|
C0002949
|
Aneurysm, Dissecting
|
COL1A1,
AGT,
SMAD3,
TGFBR1,
TGFBR2
|
C0002962
|
Angina Pectoris
|
PLAU
|
C0002965
|
Angina, Unstable
|
CXCL8,
PAPPA,
PLAU
|
C0002994
|
Angioedema
|
IFT43,
ALB,
HLA-DQB1,
HLA-DRB1,
PLAT
|
C0003076
|
Aniridia
|
ELP4
|
C0003081
|
Anisometropia
|
PTEN
|
C0003090
|
Ankylosis
|
FGFR2
|
C0003123
|
Anorexia
|
IL1B,
IL1RN,
TNF,
CCK
|
C0003125
|
Anorexia Nervosa
|
BDNF
|
C0003128
|
Anovulation
|
NR5A2
|
C0003130
|
Anoxia
|
ALDH1L1,
SARDH,
AHCY,
EGR1,
GAPDH,
GNAS,
APOA1,
ACADVL,
MPO,
ATF4,
NME1,
NOS3,
PCK2,
PLAT,
POMC,
ACTB,
RPS2,
RPS14,
BDNF,
SOD2,
TFPI,
TKT
|
C0003165
|
Anthracosis
|
IL1A,
IL1B,
IL1RN,
TNF
|
C0003431
|
Antisocial Personality Disorder
|
MAOA
|
C0003460
|
Anuria
|
AGT,
ALB,
PLAU
|
C0003466
|
Anus, Imperforate
|
PCSK5
|
C0003469
|
Anxiety Disorders
|
CHRNA5,
CNR1,
CRP,
DNMT1,
DRD2,
FOS,
GLO1,
GNB1,
GRM8,
HTR7,
APP,
MDK,
MIF,
NPY1R,
PAM,
SERPINA1,
TNF,
CARTPT,
MFAP3L
|
C0003486
|
Aortic Aneurysm
|
AGT,
SMAD3,
MMP9,
SKI,
TGFBR2
|
C0003493
|
Aortic Diseases
|
LAMC1,
MMP2,
MMP9,
SOD2
|
C0003496
|
Aortic Rupture
|
FBN1,
MMP2,
MMP9,
VKORC1
|
C0003504
|
Aortic Valve Insufficiency
|
FSTL1,
COL1A1,
COL3A1,
CTGF,
FN1,
LOX,
NPPB,
TGFB1,
TGFB2,
TIMP1
|
C0003537
|
Aphasia
|
PLAT
|
C0003615
|
Appendicitis
|
IL10
|
C0003635
|
Apraxias
|
FOXP2
|
C0003706
|
Arachnodactyly
|
FBN1,
FZD4
|
C0003756
|
Arenaviridae Infections
|
TFRC
|
C0003803
|
Arnold Chiari Malformation
|
ERF
|
C0003811
|
Cardiac Arrhythmia
|
SGOL1,
ACE,
AGT,
EDN1,
ESR2,
GJA1,
ANK2,
KCNH2,
KNG1,
OPRL1,
CNNM2,
PPP1R1A,
PTGS2,
TRH,
CACNA1C
|
C0003838
|
Arterial Occlusive Diseases
|
PLAT,
PLAU
|
C0003850
|
Arteriosclerosis
|
GSTA4,
APOE,
NOS3,
SERPINA1,
KL
|
C0003857
|
Congenital Arteriovenous Malformation
|
RASA1
|
C0003860
|
Arteritis
|
CYP1A1,
PON1
|
C0003862
|
Arthralgia
|
MVK
|
C0003864
|
Arthritis
|
COPA,
REEP3,
JMJD1C,
HP,
TIMMDC1,
ZFP36,
VTCN1
|
C0003868
|
Arthritis, Gouty
|
POMC
|
C0003869
|
Arthritis, Infectious
|
TNF
|
C0003872
|
Arthritis, Psoriatic
|
TRAF3IP2,
HLA-C,
CXCL8,
NR4A2,
REL,
BMP4,
TNF,
RUNX2,
CD68
|
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
|
C0003949
|
Asbestosis
|
DDIT3,
ATF6,
GSTT1,
HSPA5,
SERPINA1
|
C0003962
|
Ascites
|
CHRM3
|