| UMLS CUI |
UMLS Term |
Proteins |
|
C0086439
|
Hypokinesia
|
APOD,
OPRL1
|
|
C0086445
|
Idiopathic Membranous Glomerulonephritis
|
EHMT2,
DXO,
HLA-DQA1,
POU5F1,
TCF19,
PRRC2A,
EGFL8
|
|
C0086533
|
Leiomyoma, Epithelioid
|
COL4A6
|
|
C0086543
|
Cataract
|
CRYAB,
AKR1B1,
MIP,
ATP2B1,
NDRG2,
VIM,
SLC4A4,
SLC33A1
|
|
C0086647
|
Mucopolysaccharidosis Type Iiia
|
SGSH,
GNPTAB
|
|
C0086648
|
Mps Iii B
|
NAGLU
|
|
C0086649
|
Mps Iii C
|
HGSNAT
|
|
C0086650
|
Mps Iii D
|
GNS
|
|
C0086651
|
Mucopolysaccharidosis, Mps-Iv-A
|
GALNS
|
|
C0087012
|
Ataxia, Spinocerebellar
|
FOXC1,
CIC,
ATXN1,
RBM17
|
|
C0149521
|
Pancreatitis, Chronic
|
CFTR,
PRSS1,
SPINK1
|
|
C0149649
|
Cholesterol Embolism
|
PLAT,
PLAU
|
|
C0149654
|
Conduct Disorder
|
C1QTNF7
|
|
C0149721
|
Left Ventricular Hypertrophy
|
CKB,
COL1A1,
COL3A1,
ADRB3,
ACE,
AGT,
HBEGF,
AGTR2,
EDN1,
AHR,
FN1,
GAA,
MYC,
PPP3CA,
STK11,
GDF15
|
|
C0149745
|
Oral Ulcer
|
EDN1,
LEP
|
|
C0149925
|
Small Cell Carcinoma Of Lung
|
NDRG1,
RASSF8,
CKB,
TMEM132D,
COL4A2,
CREBBP,
EGFR,
LYRM9,
EP300,
FGFR1,
DIP2C,
GRM8,
ID2,
INSM1,
KIT,
ASCL1,
PLSCR4,
PTEN,
RB1,
SMARCA4,
TP53,
KHSRP,
SLIT2,
CDYL,
RIMS2,
BCLAF1
|
|
C0149931
|
Migraine Disorders
|
EDNRA,
ESR1,
MEF2D,
MRPL37,
CNNM2,
TGFB1,
TGFBR2,
TNF,
SUV39H2,
WASL
|
|
C0150055
|
Chronic Pain
|
SCN9A
|
|
C0151491
|
Congenital Musculoskeletal Anomalies
|
TMCO1,
SKI,
TGFB2
|
|
C0151516
|
Thyroid Hypoplasia
|
PAX8
|
|
C0151526
|
Premature Birth
|
EDN1,
IL6,
MBL2,
MMP9,
PTGS2,
SOD2
|
|
C0151636
|
Premature Ventricular Contractions
|
NOS3
|
|
C0151699
|
Intracranial Hemorrhages
|
PLAT,
PLAU
|
|
C0151744
|
Myocardial Ischemia
|
CDH2,
CEBPD,
PDLIM5,
CTSC,
RALBP1,
TMED2,
CIRBP,
MAP3K8,
COX5B,
CPT1B,
CRP,
MAPK14,
ADRB1,
ADRB2,
DCN,
AES,
DLAT,
AGT,
DUSP1,
DUSP6,
EDN1,
EGR2,
RAB12,
ENSA,
AK1,
F2RL1,
FABP5,
FGF2,
ALDOA,
MAPRE1,
CES3,
GATM,
GBP2,
GHR,
GK,
GCLC,
GNA12,
RGCC,
CXCL2,
GSTA1,
GSTM2,
GSTP1,
HGF,
HIVEP2,
HK1,
HMGB1,
HMOX1,
NR4A1,
HSPA1A,
APLP2,
ICAM1,
ID1,
ID3,
IFNGR1,
IGF1,
IGFBP3,
IL1A,
IL1B,
IL6,
IL6ST,
IRF1,
JAK2,
JUNB,
AREG,
ARNTL,
KITLG,
ALDH6A1,
NOS3,
P4HB,
PEBP1,
PDHA1,
PDK4,
PFKFB3,
PGM1,
PLA2G2A,
POMC,
PPAT,
PPM1B,
PSMB5,
PYGB,
RAB5A,
ACTB,
GAS5,
RPL17,
RYR2,
CCL2,
CCL3,
CCL4,
SELE,
SLC6A6,
SOD2,
SPARC,
STAT5A,
ZEB1,
TFRC,
TMPO,
TNF,
TXNRD1,
UGCG,
UQCRFS1,
VCAM1,
VEGFA,
ZFP36,
TUBA1A,
RAB7A,
CALR,
CAMK2D,
RAB1B,
CANX,
BHLHE40,
SNAP23,
CCND2,
SOCS3,
KLF4,
ADIPOQ,
CD36,
GDF15,
PRDX6
|
|
C0151786
|
Muscle Weakness
|
DSCR3,
CCT8,
ADAMTS5,
CYYR1,
RCAN1,
ETS2,
MORC3,
GABPA,
C2CD2,
GART,
N6AMT1,
DONSON,
IFNAR1,
IFNAR2,
IFNGR2,
APP,
IL10RB,
MIR155,
NCAM2,
PMP22,
ATP5O,
BRWD1,
MIS18A,
CLIC6,
MRAP,
MAP3K7CL,
BACH1,
SCAF4,
JAM2,
PRDM15,
SH3BGR,
ITSN1,
SIM2,
SLC5A3,
SON,
TIAM1,
TTC3,
TTN,
WRB,
TMEM50B,
CHAF1B,
RUNX1,
PSMG1,
CBR1,
SYNJ1,
PAXBP1,
MYOT,
ADAMTS1,
CRYZL1
|
|
C0151827
|
Eye Pain
|
POMC
|
|
C0152020
|
Gastroparesis
|
HMOX1
|
|
C0152025
|
Polyneuropathy
|
SCP2
|
|
C0152101
|
Hypoplastic Left Heart Syndrome
|
GJA1
|
|
C0152200
|
Achromatopsia
|
ATF6,
RPGR
|
|
C0152426
|
Craniorachischisis
|
DACT1
|
|
C0152427
|
Polydactyly
|
KIF3A,
GLI3,
PTEN
|
|
C0153452
|
Malignant Neoplasm Of Gallbladder
|
CNTN4
|
|
C0153594
|
Malignant Neoplasm Of Testis
|
KIT,
KITLG,
STK11,
BCL10
|
|
C0154251
|
Lipid Metabolism Disorders
|
HADHB
|
|
C0154723
|
Migraine With Aura
|
VSTM4,
NEDD4L
|
|
C0154832
|
Exudative Retinopathy
|
CRB1,
NDP
|
|
C0155017
|
Color Blindness, Blue
|
OPN1SW
|
|
C0155862
|
Streptococcal Pneumonia
|
MASP2,
CXCL8,
MAPK1,
MAPK3
|
|
C0158266
|
Intervertebral Disc Degeneration
|
GPC6,
PARK2,
CSMD1,
SPARC,
TGFB1
|
|
C0162283
|
Nephrogenic Diabetes Insipidus
|
AQP2,
AVPR2,
PRKCA
|
|
C0162309
|
Adrenoleukodystrophy
|
HMOX1,
SOD2
|
|
C0162311
|
Androgenetic Alopecia
|
HDAC9
|
|
C0162316
|
Iron Deficiency Anemia
|
TMPRSS6,
SLC11A2,
TFRC
|
|
C0162429
|
Malnutrition
|
MTHFR,
MTR,
CBS
|
|
C0162526
|
Aids-Related Opportunistic Infections
|
CD4
|
|
C0162531
|
Hereditary Coproporphyria
|
CPOX
|
|
C0162533
|
Porphyrias, Hepatic
|
ALAD
|
|
C0162534
|
Prion Diseases
|
PRNP
|
|
C0162557
|
Liver Failure, Acute
|
GPNMB,
FST,
ALB,
GC,
GFER,
HGF,
FAS,
IL1RN,
INHBA,
INS,
KRT8,
KRT18,
SERPINC1,
POMC,
MAPK8,
TNF,
CAST,
CD74
|
|
C0162566
|
Porphyria Cutanea Tarda
|
CPOX,
HFE,
UROD
|
|
C0162568
|
Erythropoietic Protoporphyria
|
EREG,
AREG,
BTC
|
|
C0162569
|
Hepatoerythropoietic Porphyria
|
UROD
|
|
C0162666
|
Mitochondrial Encephalomyopathies
|
FARS2,
NDUFS2,
NDUFV2,
MFF,
C12orf65
|
|
C0162670
|
Mitochondrial Myopathies
|
IL1A,
IL1B,
IL6,
TNF
|
|
C0162671
|
Melas Syndrome
|
IL1A,
IL1B,
NDUFS1,
SOD2
|
|
C0162672
|
Merrf Syndrome
|
IL1A,
IL1B
|
|
C0162674
|
Chronic Progressive External Ophthalmoplegia
|
IL1A,
IL1B,
POLG,
SOD2
|
|
C0162677
|
Caliciviridae Infections
|
FUT2
|
|
C0162770
|
Right Ventricular Hypertrophy
|
TGFA
|
|
C0162809
|
Kallmann Syndrome
|
SEMA3A,
DUSP6,
FGFR1,
FLRT3,
NSMF,
ANOS1,
CHD7,
WDR11,
SPRY4,
KISS1R,
HS6ST1
|
|
C0162819
|
Skin Diseases, Vascular
|
F2
|
|
C0162820
|
Dermatitis, Allergic Contact
|
NAMPT,
PRDX4,
CTSC,
FGL2,
RAB32,
CREM,
CYP1A1,
ETS2,
F13A1,
FCGR3B,
PHLDA1,
ABCA6,
FYB,
QPCT,
IPCEF1,
CXCL2,
HSD11B1,
IL1A,
IL10,
ITGAM,
MXD1,
MEOX1,
MRC1,
CNTN3,
PLAT,
BCL2,
SAT1,
SELE,
ST6GAL1,
SLC2A3,
BMP6,
SPP1,
STAC,
TNF,
TNFAIP6,
UPP1,
ASRGL1,
SLC7A5,
CASP8,
KMO,
SOCS1,
SOCS2,
TMSB10,
IL32,
CD36
|
|
C0162823
|
Dermatitis, Irritant
|
CBR1
|
|
C0162834
|
Hyperpigmentation
|
RPL27A
|
|
C0162835
|
Hypopigmentation Disorder
|
GLI3,
EPG5
|
|
C0162848
|
Lichenoid Eruptions
|
IL6,
CXCL8
|
|
C0162871
|
Aortic Aneurysm, Abdominal
|
AGT,
AGTR1,
LDLR,
MMP9,
MMP14,
PTGS2,
SOD2
|
|
C0162872
|
Aortic Aneurysm, Thoracic
|
FBN1,
MMP2,
MMP9,
ACTA2,
TGFB2,
TGFBR2
|
|
C0175683
|
Citrullinemia
|
ASS1
|
|
C0175693
|
Russell-Silver Syndrome
|
H19,
IGF2,
FOXP2
|
|
C0175694
|
Smith-Lemli-Opitz Syndrome
|
DHCR7
|
|
C0175699
|
Saethre-Chotzen Syndrome
|
FGFR2,
TWIST1
|
|
C0175702
|
Williams Syndrome
|
DLG4,
TBL2,
GTF2I,
RFC2,
CLIP2,
BAZ1B
|
|
C0175704
|
Leopard Syndrome
|
PTEN,
PTPN11,
RAF1
|
|
C0205710
|
Alpers Syndrome (Disorder)
|
POLG
|
|
C0205711
|
Pelizaeus-Merzbacher Disease
|
LMNB1,
PLP1
|
|
C0205713
|
Roussy-Levy Syndrome (Disorder)
|
PMP22
|
|
C0205730
|
Hereditary Opalescent Dentin (Disorder)
|
DSPP
|
|
C0205770
|
Choroid Plexus Papilloma
|
TP53
|
|
C0205824
|
Liposarcoma, Dedifferentiated
|
CDK4,
MDM2,
HMGA2
|
|
C0206042
|
Fatal Familial Insomnia
|
PRNP
|
|
C0206062
|
Lung Diseases, Interstitial
|
FAM13A,
COPA,
DSP,
MAPT,
CSMD1,
DEPTOR,
SOD2,
OBFC1
|
|
C0206064
|
Microvascular Angina
|
MTHFR
|
|
C0206081
|
Hyperandrogenism
|
BMPR2
|
|
C0206093
|
Neuroectodermal Tumors
|
MYC
|
|
C0206115
|
Wagr Syndrome
|
BDNF,
WT1
|
|
C0206146
|
Myocardial Stunning
|
ATP2A2,
PLN,
TNF
|
|
C0206160
|
Reticulocytosis
|
SOD2
|
|
C0206180
|
Ki-1+ Anaplastic Large Cell Lymphoma
|
HSP90AA1,
STAT3,
TWIST1
|
|
C0206182
|
Lymphomatoid Papulosis
|
NPM1
|
|
C0206245
|
Amyloid Neuropathies, Familial
|
TTR
|
|
C0206368
|
Exfoliation Syndrome
|
LOXL1
|
|
C0206617
|
Cardiovirus Infections
|
TNF
|
|
C0206624
|
Hepatoblastoma
|
CTNNB1,
APC,
IGF2,
PCNA,
TGFA,
TP53
|
|
C0206630
|
Endometrial Stromal Sarcoma
|
JAZF1,
SUZ12,
YWHAE
|
|
C0206634
|
Liposarcoma, Myxoid
|
DDIT3,
FUS
|
|
C0206637
|
Chondrosarcoma, Mesenchymal
|
IL1A,
CD99,
MKI67,
PDGFRA,
BCL2
|
|
C0206638
|
Giant Cell Tumor Of Bone
|
H3F3A
|
|
C0206646
|
Fibromatosis, Abdominal
|
APC
|