UMLS CUI |
UMLS Term |
Proteins |
C0019294
|
Hernia, Inguinal
|
TGFBR2
|
C0019337
|
Heroin Dependence
|
DRD2,
LEP,
NGF,
POMC,
RETN,
BDNF,
ADIPOQ
|
C0019360
|
Herpes Zoster Disease
|
HCP5
|
C0019372
|
Herpesviridae Infections
|
NECTIN1,
SCN9A
|
C0019569
|
Hirschsprung Disease
|
SEMA3C,
ECE1,
SEMA3D,
NRG1
|
C0019572
|
Hirsutism
|
POMC,
CACNA1G
|
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
|
C0019880
|
Homocystinuria
|
CBS
|
C0020071
|
Hereditary Sensory Autonomic Neuropathy, Type 1
|
ATL3,
SPTLC2
|
C0020074
|
Hsan Type Iv
|
NTRK1
|
C0020075
|
Hereditary Sensory Autonomic Neuropathy, Type 5
|
NGF,
NTRK1,
SCN9A
|
C0020179
|
Huntington Disease
|
CNR1,
RCAN1,
HTT,
MAOA,
MAOB,
IP6K2,
SLC2A3,
AIFM1
|
C0020224
|
Polyhydramnios
|
IGF2
|
C0020225
|
Hydranencephaly
|
NDE1
|
C0020255
|
Hydrocephalus
|
IFT122
|
C0020295
|
Hydronephrosis
|
EGR1,
PTGS2,
PTGES
|
C0020302
|
Hydrophthalmos
|
CYP1B1
|
C0020305
|
Hydrops Fetalis
|
CCBE1
|
C0020428
|
Hyperaldosteronism
|
CYP11B1,
CYP11B2
|
C0020429
|
Hyperalgesia
|
CNR1,
ADM,
CSK,
AGT,
EDN1,
ALOX5,
IGF1,
IL1A,
IL1B,
IL1RN,
IL6,
CXCL8,
IL10,
INSR,
ITGA2,
KNG1,
NGF,
TNFRSF11B,
GAL,
MAPK1,
MAPK3,
MAPK7,
PTGS1,
PTGS2,
PTHLH,
RAF1,
TRPV4,
CCL2,
SPARC,
SYN2,
TNF,
TRPV1,
CACNA2D1,
CCKBR,
CARTPT
|
C0020433
|
Hyperbilirubinemia
|
TNF
|
C0020437
|
Hypercalcemia
|
CYP27B1,
IL6,
TNFRSF11B,
PTH,
PTHLH,
TNF,
TNFSF11,
KL
|
C0020438
|
Hypercalciuria
|
POMC,
PTH
|
C0020443
|
Hypercholesterolemia
|
COL3A1,
CTF1,
ABCA1,
EDN1,
PCSK9,
HMGCR,
APOB,
ICAM1,
APOE,
LDLR,
LEP,
LPL,
MYLK,
PON1,
SELE,
VCAM1,
NR4A3
|
C0020445
|
Hypercholesterolemia, Familial
|
ABCA1,
PCSK9,
GHR,
APOA2,
APOA4,
APOB,
APOC3,
APOE,
LDLR,
LPL,
PON1
|
C0020452
|
Hyperemia
|
ADA,
ADRB1,
AGT,
IL1B,
KNG1,
PTGS2,
ADIPOQ
|
C0020455
|
Hypergammaglobulinemia
|
B2M
|
C0020456
|
Hyperglycemia
|
PRDX4,
COL3A1,
NQO1,
FBN1,
GCG,
GPX1,
HMGA1,
HSD11B1,
INS,
INSR,
LEPR,
NOS3,
PRKCB,
PTGS2,
SIM1,
IRS2
|
C0020459
|
Hyperinsulinism
|
COL3A1,
TSC22D3,
FBN1,
GCG,
GPX1,
HMOX1,
INS,
INSR,
IRS1,
LEP,
LEPR,
MC4R,
NOS3
|
C0020461
|
Hyperkalemia
|
CYP17A1,
INS
|
C0020473
|
Hyperlipidemia
|
PPARGC1B,
ADRB2,
ADRB3,
GCG,
APC,
APOB,
APOE,
IRS1,
LDLR,
LEPR,
LPL,
NOS3,
PPARA
|
C0020474
|
Hyperlipidemia, Familial Combined
|
LPL
|
C0020476
|
Hyperlipoproteinemias
|
APOC3,
APOE,
PON1,
PPARA
|
C0020479
|
Hyperlipoproteinemia Type Iii
|
APOA5,
APOE
|
C0020480
|
Hyperlipoproteinemia Type Iv
|
APOA5
|
C0020481
|
Hyperlipoproteinemia Type V
|
APOA5,
LPL
|
C0020488
|
Hypernatremia
|
POMC
|
C0020490
|
Hyperopia
|
LAMA2,
RBFOX1
|
C0020492
|
Hyperostosis
|
PTH
|
C0020497
|
Cortical Congenital Hyperostosis
|
COL1A1
|
C0020500
|
Hyperoxaluria
|
SLC26A1,
IL6,
NFKB1,
CCL2,
CCL5
|
C0020503
|
Hyperparathyroidism, Secondary
|
CRP,
ALPL,
IL6,
PTH
|
C0020505
|
Hyperphagia
|
LEP,
LEPR,
MC4R,
NTRK2
|
C0020507
|
Hyperplasia
|
PRG4,
AKT1,
KDM1A,
BRD4,
HIF1A,
HMOX1,
HSPB1,
KCNK1,
LDLR,
MMP9,
MYCN,
PIK3CA,
PTGS2,
TCF7L2,
TGFB1,
ZFP36
|
C0020514
|
Hyperprolactinemia
|
DRD2,
GNRH1,
LHB,
PRL,
PRLR
|
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
|
C0020532
|
Hypersplenism
|
FAS
|
C0020538
|
Hypertensive Disease
|
GJC1,
VAV3,
RALBP1,
HRH3,
CLCNKA,
BORCS7,
COL1A1,
COL3A1,
CRP,
MACROD2,
ARHGAP42,
CTGF,
ADRB1,
CYBB,
CYP1A1,
ACE,
DRD2,
AGT,
AGTR1,
AGTR2,
ECE1,
EDN1,
EDNRA,
AHR,
ALAD,
ALB,
NEDD4L,
FN1,
FOS,
ALOX15,
GCG,
GJA1,
GJA5,
GCLC,
GNAS,
GNB3,
GNRH1,
HECTD4,
GPX1,
NR3C1,
CXCL2,
GSTT1,
GSTT2,
ANXA1,
HFE,
HIF1A,
HMOX1,
HP,
HSD11B1,
HSD11B2,
APOA1,
HTR2B,
ICAM1,
IGF1,
APOE,
INS,
AR,
LEP,
LEPR,
LHB,
LPL,
MC2R,
MDH1,
MMP2,
ABCC1,
MYO6,
ATOX1,
ATP1A2,
NOS3,
NPPB,
ATP2B1,
OLR1,
SERPINE1,
GAL,
ERAP1,
PLAT,
PLG,
POMC,
PPARA,
PPARG,
PPBP,
CASZ1,
PRKCD,
PTEN,
PTH,
PTGS2,
BCL2,
RELA,
RGS2,
CELA2A,
SCNN1A,
SCNN1G,
CCL2,
SLC39A8,
WNK1,
SLC12A2,
SOD2,
SOD3,
STK11,
TGFB1,
TGM2,
TNF,
TNXB,
TP53,
TPM1,
TRH,
TRPC3,
UCP2,
VCAM1,
VDR,
VWF,
XRCC4,
CACNA1C,
CACNA2D1,
CAPZA1,
RGS5,
CAV1,
AOC3,
CBS,
IER3,
ADIPOQ,
ITM2B,
CD36
|
C0020540
|
Malignant Hypertension
|
CYP17A1,
AGT
|
C0020541
|
Hypertension, Portal
|
NOS3,
VEGFA
|
C0020542
|
Pulmonary Hypertension
|
SLC31A1,
ACE,
EDN1,
BRD4,
ALOX5,
HIF1A,
HTR2B,
CXCL8,
LOX,
SMAD9,
EIF2AK4,
NOS3,
NPPB,
CCL2,
BMPR2,
SOD2,
TGFA,
TNF,
CD40LG
|
C0020544
|
Renal Hypertension
|
AGT,
MYH9
|
C0020545
|
Hypertension, Renovascular
|
NOS3
|
C0020550
|
Hyperthyroidism
|
GPX1,
GSR,
PON1,
SOD2,
CARTPT
|
C0020557
|
Hypertriglyceridemia
|
APOA5,
CRP,
APOB,
INS,
LPL,
PPARA,
LMF1,
ZPR1
|
C0020578
|
Hyperventilation
|
VAV3,
AHR
|
C0020595
|
Hypoaldosteronism
|
CYP11B2
|
C0020597
|
Hypobetalipoproteinemias
|
APOB
|
C0020598
|
Hypocalcemia
|
POMC,
PTH
|
C0020615
|
Hypoglycemia
|
GSR,
IGF2,
IL1B,
INS,
SERPINA1,
PPARA,
SOD2,
HNF1A,
TNF,
CACNA1C
|
C0020619
|
Hypogonadism
|
CYP17A1,
CYP19A1,
FSHB,
GNRH1,
GNRHR,
LEP,
LEPR,
LHB,
POLD1,
PRL
|
C0020620
|
Hypohidrosis
|
COG6
|
C0020621
|
Hypokalemia
|
ADRB2,
AGT,
NR3C1,
INS,
NPPB,
POMC
|
C0020625
|
Hyponatremia
|
TRPV4
|
C0020635
|
Hypopituitarism
|
CYP17A1,
CYP19A1,
PRL
|
C0020640
|
Inherited Factor Ii Deficiency
|
F2
|
C0020649
|
Hypotension
|
NISCH,
CNR1,
ADORA1,
ADRA1B,
CTF1,
ACE,
DRD2,
AGT,
EDN1,
EDN2,
ALB,
GCG,
HRH1,
IL1A,
IL1B,
IL6,
INS,
KNG1,
MAOA,
MAOB,
NPPB,
PLAT,
PLAU,
POMC,
PRL,
SCNN1G,
TNF
|
C0020672
|
Hypothermia, Natural
|
CNR1,
GCG,
GNRH1,
IL12A,
LHB,
TNF,
TRH
|
C0020676
|
Hypothyroidism
|
SH2B3,
VAV3,
PHTF1
|
C0020678
|
Hypotrichosis
|
LIPH
|
C0020725
|
Type Ii Mucolipidosis
|
GNPTAB
|
C0020757
|
Ichthyoses
|
SUPV3L1
|
C0020796
|
Profound Mental Retardation
|
MTR
|
C0020877
|
Ileitis
|
ITGAM
|
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
|
C0021122
|
Disruptive, Impulse Control, And Conduct Disorders
|
DRD2,
FOSB
|
C0021290
|
Neonatal Disorder
|
FKBP5
|
C0021295
|
Infant, Premature, Diseases
|
ACE
|
C0021308
|
Infarction
|
PRL
|
C0021359
|
Infertility
|
EHMT2,
LEPR,
TTC19,
PTGER2,
KL
|
C0021361
|
Female Infertility
|
CEBPB,
CTGF,
CYP17A1,
CYP19A1,
DHFR,
ESR1,
ESR2,
FSHB,
NR5A2,
AR,
LEP,
LEPR,
LHB,
LIF,
ARNTL,
MTHFR,
PAPPA,
ADIPOR1,
MAPK1,
MAPK3,
PRL,
NR2F2,
TP53,
ADIPOR2
|
C0021364
|
Male Infertility
|
CFTR,
CYP1A1,
CYP17A1,
ACE,
TSC22D3,
AHR,
STX2,
ESR1,
ALDH2,
FSHB,
GNRH1,
GPX4,
AR,
LHB,
LHCGR,
MDM2,
MTHFR,
MTR,
NOS3,
PDE3A,
POLG,
PON1,
BAX,
RAD23B,
BCL2,
SEPP1,
SOD2,
TP53,
NSUN7
|
C0021368
|
Inflammation
|
SH2B3,
PROCR,
MASP2,
DUSP10,
CRP,
PARP1,
AGT,
EDN1,
EGR1,
AHR,
AKT1,
F2R,
F2RL1,
FGF2,
GALNS,
ANGPT1,
CXCL2,
HMGB1,
HMOX1,
APOA1,
ICAM1,
IL1A,
IL1B,
IL1RN,
IL6,
CXCL8,
IL10,
LCN2,
LEP,
ASIC2,
STS,
MIF,
MMP2,
MMP9,
MPO,
NGF,
NPPB,
TNFRSF11B,
GAL,
PLAUR,
PPARA,
PPARG,
CLN6,
VIMP,
PTGER4,
PTGS2,
BDNF,
CCL2,
CCL3,
CCL4,
SLC22A5,
STAT3,
TF,
TFRC,
TGFA,
TGFB1,
TIMP1,
TLR2,
TLR4,
TNF,
VEGFA,
TRPV1,
ZFP36,
CASP1,
CCK,
KYNU,
ASIC3,
ADIPOQ,
PLAA,
PTGES,
WDR1
|
C0021390
|
Inflammatory Bowel Diseases
|
ADCY3,
CCDC85B,
CDC37,
RASSF1,
ATXN2L,
MAP3K8,
DAP,
DNMT3B,
GPR183,
FCGR2A,
FOSL2,
PNKD,
PTPN22,
APC,
IL6,
IL10,
LSP1,
SMAD3,
C5orf56,
MST1,
TUBD1,
HDAC7,
PLAU,
CDKAL1,
CPSF3L,
PRKCB,
ZMIZ1,
PTGS2,
PTPN2,
RIT1,
BACH2,
THADA,
TMBIM1,
ERAP2,
SFRP1,
CRTC3,
SLC11A1,
STAT3,
TNF,
NDFIP1,
DUSP16,
TSPAN14,
CUL2,
VNN1,
ZNF300,
CD6,
DLG5,
LPXN
|
C0021400
|
Influenza
|
TRIM22,
IFITM3,
IFI44,
IFI44L,
IFIT5,
GBP1,
LAMP3,
IFI27,
LY6E,
ATF3,
PLSCR1,
XAF1,
ZCCHC2,
CCL2,
CCL8,
SIGLEC1,
SERPING1,
TNFAIP6,
XIST,
TNFSF10,
ISG15
|
C0021655
|
Insulin Resistance
|
CPE,
CTF1,
ADRB2,
EGFR,
AHR,
GH1,
GNAS,
GPX3,
HMGA1,
HMOX1,
NR4A1,
ACACB,
HSD11B1,
IGFBP2,
INS,
INSR,
IRS1,
AR,
KCNJ11,
LEP,
LEPR,
STS,
MC4R,
NOS3,
PIK3R1,
PPARA,
PPARG,
PRKAA2,
RETN,
PTEN,
TRIB3,
SEPP1,
SLC2A4,
SOD2,
SREBF1,
SREBF2,
TNF,
C3,
NR4A3,
CASP1,
ADIPOQ,
CD36
|
C0021818
|
Intervertebral Disk Displacement
|
COL11A1
|
C0021831
|
Intestinal Diseases
|
PPIF,
SGOL1,
DDIT3,
MYO5B
|
C0021841
|
Intestinal Neoplasms
|
CDKN1A,
CDKN1B,
CTNNB1,
APC,
PRKCA,
PRKCD,
BAX,
BCL2,
XPA,
NR1H4
|
C0021843
|
Intestinal Obstruction
|
SLC6A14
|
C0021845
|
Intestinal Perforation
|
NOS3
|
C0021846
|
Intestinal Polyps
|
APC,
JUN,
PTGS1,
PTGS2
|
C0022104
|
Irritable Bowel Syndrome
|
IL10
|