UMLS CUI |
UMLS Term |
Proteins |
C0206650
|
Fibroadenoma
|
MED12
|
C0206655
|
Alveolar Rhabdomyosarcoma
|
FOXO1
|
C0206656
|
Rhabdomyosarcoma, Embryonal
|
DMD,
BUB1B
|
C0206657
|
Alveolar Soft Part Sarcoma
|
ASPSCR1
|
C0206658
|
Smooth Muscle Tumor
|
NDRG1
|
C0206663
|
Neuroectodermal Tumor, Primitive
|
EWSR1,
HEY1,
HES1,
NOTCH2,
PON1,
PTCH1
|
C0206669
|
Hepatocellular Adenoma
|
CDKN1B,
CTNNB1,
A2M
|
C0206677
|
Adenomatous Polyps
|
APC
|
C0206681
|
Adenocarcinoma, Clear Cell
|
BCL2,
TP53
|
C0206682
|
Follicular Thyroid Carcinoma
|
NRAS,
SRGAP1,
MINPP1
|
C0206686
|
Adrenocortical Carcinoma
|
CTNNB1,
EGFR,
IGF1R,
IGF2,
RB1,
RRM1,
SPARC,
TOP2A,
TP53,
MED12
|
C0206692
|
Carcinoma, Lobular
|
AGTR2,
STAT5A
|
C0206693
|
Medullary Carcinoma
|
HPGD
|
C0206698
|
Cholangiocarcinoma
|
EGFR,
ERBB2,
FGFR2,
GNAS,
IDH1,
IDH2,
IL6,
KRAS,
SMAD4,
PEG3,
PBRM1,
PRKACA,
PTGS2,
KMT2C,
ROBO2,
SLC5A5,
TP53,
ARID1A,
BAP1
|
C0206704
|
Carcinoma, Large Cell
|
CYP2A6,
PYCARD
|
C0206708
|
Cervical Intraepithelial Neoplasia
|
MTHFR
|
C0206711
|
Pilomatrixoma
|
CTNNB1,
MUTYH
|
C0206720
|
Squamous Cell Neoplasms
|
BRCA2
|
C0206724
|
Sex Cord-Stromal Tumor
|
GNAS
|
C0206726
|
Gliosarcoma
|
TACC3,
CYP2B6,
EGFR,
FGFR1,
IDH1,
PPARG,
TACC1,
TP53,
VEGFA
|
C0206727
|
Nerve Sheath Tumors
|
SUZ12
|
C0206729
|
Neurofibrosarcoma
|
MXI1,
NRAS
|
C0206732
|
Epithelioid Hemangioendothelioma
|
YAP1,
CAMTA1
|
C0206734
|
Hemangioblastoma
|
NDRG1,
HIF1A
|
C0206754
|
Neuroendocrine Tumors
|
CDKN1B,
ATRX,
PTHLH,
SSTR1,
TYMS
|
C0206762
|
Limb Deformities, Congenital
|
GPC6,
COL11A2,
HAPLN1,
FGFR2,
IRF6,
MIR17HG,
TGFB2,
CACNA1C
|
C0206769
|
Nevi And Melanomas
|
BAP1
|
C0220658
|
Pfeiffer Syndrome
|
FGFR1,
FGFR2
|
C0220704
|
Shprintzen Syndrome
|
COMT,
GP1BB,
TBX1,
HIRA,
UFD1L
|
C0220756
|
Niemann-Pick Disease, Type C
|
LIPA,
NPC1
|
C0220994
|
Hyperammonemia
|
TYMS
|
C0221002
|
Hyperparathyroidism, Primary
|
PTH
|
C0221013
|
Mastocytosis, Systemic
|
HMOX1,
KIT
|
C0221043
|
Liddle Syndrome
|
SCNN1A,
SCNN1G
|
C0221054
|
Welander Distal Myopathy
|
TIA1
|
C0221060
|
Mobius Syndrome
|
PLXND1,
REV3L
|
C0221204
|
Lytic Lesion
|
ANTXR2,
TNFRSF11B,
PTHLH,
SPP1,
TNF,
TNFSF11
|
C0221263
|
Cafe-Au-Lait Spots
|
SPRED1,
GNAS
|
C0221355
|
Macrocephaly
|
CHD8
|
C0221357
|
Brachydactyly
|
GNAS,
SMAD4,
HDAC4
|
C0221406
|
Pituitary-Dependent Cushing'S Disease
|
GNAI2,
GNAS,
POMC,
PPARG,
AIP
|
C0221757
|
Alpha 1-Antitrypsin Deficiency
|
SERPINA1
|
C0231341
|
Premature Aging Syndrome
|
APP,
KL
|
C0232347
|
No-Reflow Phenomenon
|
CDH5,
CTNNB1,
JUP
|
C0232910
|
Teratogenesis
|
SOX17
|
C0234162
|
Cerebellar Dysmetria
|
SETX
|
C0234985
|
Mental Deterioration
|
TOMM40,
SLCO6A1,
APOC1,
APOE
|
C0235032
|
Neurotoxicity Syndromes
|
ADD3,
ADRA1B,
CYP3A5,
NQO1,
FOS,
PLAT,
PON1,
PRKCD,
SRSF5,
TIMP3,
CRISPLD2,
CCK
|
C0235752
|
Port-Wine Stain
|
GNAQ,
RASA1
|
C0235833
|
Congenital Diaphragmatic Hernia
|
CTGF,
ZFPM2,
GATA4,
GATA6,
IGF1R,
IGF2R,
INSR,
WT1
|
C0236642
|
Pick Disease Of The Brain
|
MAPT,
PSEN1
|
C0236733
|
Amphetamine-Related Disorders
|
CDH13,
COMT,
SGCZ,
CYP2D6,
LINGO2,
CD55,
DRD2,
EPHX1,
AKT1,
FHIT,
ZNF423,
ACSL6,
PSD3,
FOS,
PCOLCE2,
GSTM1,
GSTP1,
GSTT1,
NRG1,
AOAH,
MYO5B,
NPY1R,
SERPINA5,
PDE4D,
PLAT,
POU5F1,
MAP2K5,
RELA,
BDNF,
CSMD1,
SMYD3,
MARC1,
SNCA,
PRDM2,
USP48,
LARGE
|
C0236736
|
Cocaine-Related Disorders
|
HDAC5,
GPHN,
SIGMAR1,
EHMT2,
CNR1,
COMT,
CREB1,
DRD2,
EGR1,
ESR2,
FDFT1,
FGF2,
ARC,
FOS,
FOSB,
APOL2,
GABBR1,
GPSM1,
AGO2,
NR3C1,
ILK,
JUND,
NGF,
NPY2R,
NTRK2,
KLHL5,
GHRL,
POMC,
TENM3,
MAPK1,
MAPK3,
PRL,
BDNF,
SLC1A2,
SNCA,
ICE2,
MANEA,
CALM2,
COL21A1,
CCKBR,
RPS6KA5,
HOMER1,
SCARB1,
CARTPT,
HDAC4
|
C0236811
|
Chronobiology Disorders
|
SGOL1,
AHR,
PPARG
|
C0236964
|
Attention Deficit And Disruptive Behavior Disorders
|
S100B
|
C0236969
|
Substance-Related Disorders
|
CDH13,
FARP1,
INADL,
ABCC4,
CFTR,
CHRM2,
CHRNA5,
XKR4,
CNR1,
MACROD2,
CYP2D6,
DRD2,
FHIT,
LIMCH1,
SAMD4A,
CERS6,
GRIA4,
NME7,
INSR,
AFF3,
ABLIM1,
MYO6,
ATP1B1,
NRCAM,
PBX1,
POLR1D,
SLC45A2,
PMAIP1,
APPL2,
CCDC91,
FRMD4A,
WDR11,
PARVA,
CSMD1,
SLC22A3,
FAM184A,
THSD4,
SEMA6D,
CSRNP3,
ZNF606,
COLEC12,
C10orf11,
BCAR3,
MKNK1,
ZNF804A,
AKAP7,
CXCL14,
CHD1L,
SLK
|
C0237873
|
Physiological Sexual Disorders
|
PRL,
PTGER2,
PTGER4
|
C0238065
|
Biliary Cirrhosis, Secondary
|
MERTK
|
C0238111
|
Lennox-Gastaut Syndrome
|
CHD2
|
C0238190
|
Inclusion Body Myositis (Disorder)
|
GNE
|
C0238198
|
Gastrointestinal Stromal Tumors
|
DMD,
KIT,
MTHFR,
PDGFRA,
SDHA,
SDHB,
SDHC
|
C0238288
|
Muscular Dystrophy, Facioscapulohumeral
|
CDKN1A,
COL3A1,
DCN,
ACAN,
SMCHD1,
GSTT2,
HSPA1B,
HSPA4,
LUM
|
C0238402
|
Pycnodysostosis
|
CTSK
|
C0238461
|
Anaplastic Thyroid Carcinoma
|
SOD2,
TP53
|
C0239981
|
Hypoalbuminemia
|
ALB,
IL6,
TNFRSF1B
|
C0241910
|
Hepatitis, Autoimmune
|
CXCL1,
IL6,
IL10,
IL18,
LEP,
CCL2,
CCL5,
TGFB1,
C1S
|
C0242216
|
Biliary Calculi
|
GNAS,
HMGCR,
ABCG8,
CCK
|
C0242287
|
Isaacs Syndrome
|
HINT1
|
C0242292
|
Mccune-Albright Syndrome
|
GNAS
|
C0242339
|
Dyslipidemias
|
AHR,
HP,
APOB,
LDLR,
LEPR,
LPL,
PPARA,
PPARG,
TMEM57,
DNAH11,
VNN1
|
C0242341
|
Sexual Infantilism
|
CYP19A1
|
C0242350
|
Erectile Dysfunction
|
EDN1,
EDNRA,
NOS3,
PRL,
BCL2,
SHBG,
VEGFA
|
C0242379
|
Malignant Neoplasm Of Lung
|
KLC3,
ERCC2,
ACTA2,
BRCA2,
CLPTM1L
|
C0242383
|
Age Related Macular Degeneration
|
TOMM40,
COL10A1,
CFH,
APOC1,
CFI,
APOE,
HTRA1,
RPGR,
CFB,
TGFBR1,
TLR4,
TNXB,
C3,
VEGFA,
PLA2G12A,
SQSTM1
|
C0242387
|
Mandibulofacial Dysostosis
|
POLR1D,
TCOF1,
POLR1C
|
C0242422
|
Parkinsonian Disorders
|
PARP1,
DCTN1,
DRD2,
ALDH1A1,
GSR,
MAPT,
NGF,
PARK2,
POLG,
PRKCD,
PRL,
PINK1,
SLC18A2,
SNCA,
TH,
PRKRA,
ALDH1A2
|
C0242488
|
Acute Lung Injury
|
EDN1,
APOA1,
ICAM1,
FAS,
ASCL1,
MYLK,
PPARG,
TGFB1,
TXN,
ACVR1,
IL1RL1
|
C0242528
|
Azotemia
|
GH1
|
C0242597
|
Leukocyte-Adhesion Deficiency Syndrome
|
ITGB2
|
C0242647
|
Mucosa-Associated Lymphoid Tissue Lymphoma
|
BCL10
|
C0242656
|
Disease Progression
|
CDH2,
ABCF2,
CNPY2,
NOP56,
PRDX4,
CCT7,
TXNIP,
CTSC,
CGA,
CLCN3,
CLN3,
CSTA,
CTSB,
CYP2A6,
EGFR,
ERBB2,
ERBB3,
ESR1,
FGF2,
FKBP2,
ABCF1,
KDM1A,
FAM168A,
BOP1,
SERBP1,
AMFR,
SNX5,
PRPF19,
MRPS18B,
GSTP1,
CPSF1,
HNRNPL,
IDH3B,
KLK3,
MMP2,
ABCC1,
MYC,
NDUFA2,
NDUFS1,
ALDH7A1,
PA2G4,
ZNF593,
C11orf73,
PDHA1,
POLR3K,
PHB,
PPP2R1A,
PPP2R4,
PREP,
CARKD,
PTEN,
RANBP10,
PTPRF,
ABCD4,
RAD23A,
BCL2,
RPL13,
RPL15,
RPL18,
RPS6,
RPS21,
RPS26,
RRM1,
RXRB,
SNRPB,
SOD2,
SOD3,
SREBF2,
ZEB1,
TOP2A,
VEGFB,
YY1,
TAF15,
SYMPK,
ARFGAP2,
PLPP1,
SUCLG1,
TMEM63A,
ZEB2
|
C0242698
|
Ventricular Dysfunction, Left
|
ADRB2,
FAS,
IL6,
INS,
NPPB,
ATP2A2,
PLN,
ITLN1,
SOD2
|
C0242706
|
Hyperoxia
|
CYP1A1,
AHR
|
C0242707
|
Ventricular Dysfunction, Right
|
NPPB
|
C0242788
|
Breast Neoplasms, Male
|
TOX3,
AR
|
C0242852
|
Proliferative Vitreoretinopathy
|
LRP5,
CAPN5
|
C0242973
|
Ventricular Dysfunction
|
ADORA1,
ADRB1,
DMD,
ALDH2,
GAA,
TNF
|
C0242992
|
Multiple Chemical Sensitivity
|
SOD2
|
C0243026
|
Sepsis
|
ADM,
ANGPT1,
HMGB1,
CXCR2,
IL10,
MIF,
MMP9,
NOS3,
MAPK1,
MAPK3,
TGFB1,
TLR4,
TNF
|
C0243038
|
Carcinoma, Lewis Lung
|
TXNRD1
|
C0243050
|
Cardiovascular Abnormalities
|
EDN1
|
C0243057
|
Stomatognathic System Abnormalities
|
RUNX2
|
C0259771
|
Steatocystoma Multiplex
|
KRT17
|
C0260662
|
Hearing Problem
|
NIPBL
|
C0262584
|
Carcinoma, Small Cell
|
CYP2A6,
PYCARD,
BIRC5,
SMARCA4,
TP53
|
C0263454
|
Chloracne
|
CDK6,
CDKN1B,
CREM,
GADD45A,
EGFR,
FRMD3,
GSTM1,
GSTM3,
HBA1,
HBB,
HBG1,
ITGB2,
KRT17,
SERPINB9,
CYCS,
PTGER4,
BTG2,
AHNAK,
ANKRD55,
EPPK1,
RAB11A,
CD28
|
C0264423
|
Asthma, Occupational
|
CDH17,
TENM3
|
C0264939
|
Systemic Vasculitis
|
HMGB1
|
C0265219
|
Miller Dieker Syndrome
|
YWHAE
|
C0265220
|
Pallister-Hall Syndrome
|
GLI3
|