UMLS CUI |
UMLS Term |
Proteins |
C0001546
|
Adjustment Disorders
|
HDAC5
|
C0001973
|
Alcoholic Intoxication, Chronic
|
MBNL2,
GPHN,
CHRNA5,
ADH1B,
COMT,
CYP2E1,
ALDH2,
FSHB,
GABBR1,
GATA4,
GHSR,
UTP20,
SERINC2,
LHB,
NPY2R,
RCBTB1,
SHBG,
SNCA,
TF
|
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
|
C0002622
|
Amnesia
|
SIGMAR1,
HRH3,
GNAI1,
GNAI3,
APP,
IL1A,
IL6,
NGF,
POMC,
PREP,
TRH
|
C0002624
|
Retrograde Amnesia
|
PREP
|
C0003125
|
Anorexia Nervosa
|
BDNF
|
C0003431
|
Antisocial Personality Disorder
|
MAOA
|
C0003469
|
Anxiety Disorders
|
CHRNA5,
CNR1,
CRP,
DNMT1,
DRD2,
FOS,
GLO1,
GNB1,
GRM8,
HTR7,
APP,
MDK,
MIF,
NPY1R,
PAM,
SERPINA1,
TNF,
CARTPT,
MFAP3L
|
C0004310
|
Auditory Perceptual Disorders
|
CHRNA7
|
C0004352
|
Autistic Disorder
|
ADA,
ZMYND11,
CHRNA7,
RAB39B,
AGAP1,
TPH2,
COMT,
ADM,
PTCHD1,
MACROD2,
CNTN4,
ADRB2,
ADSL,
CYP19A1,
DAB1,
DHCR7,
DHFR,
DLX2,
ABAT,
DPYD,
EGR2,
EXT1,
ALDH1A3,
REEP3,
JMJD1C,
NLGN1,
VWA8,
PASK,
FMR1,
CADM1,
GABBR1,
GABRA5,
SEZ6L2,
GHR,
GJA1,
GLO1,
GPX1,
GRIN2A,
STXBP6,
GRM8,
GSTM1,
GSTP1,
SLC40A1,
HDLBP,
HLA-A,
HLA-DRB1,
HOXA1,
APC,
IGF1,
IGF2,
IGFBP3,
IL1RN,
IL6,
IL10,
ACADSB,
INPP1,
AR,
ITGB3,
KCNMA1,
LAMB1,
LEP,
ASIC2,
MAOA,
MAOB,
MARK1,
MEF2C,
MET,
MIF,
MTF1,
MTHFR,
MYO1D,
NPAS2,
NRAS,
NRCAM,
NTRK2,
OXTR,
SERPINE1,
CNTN3,
PARK2,
TRIM33,
PECAM1,
PER1,
PIK3CG,
PLA2G4A,
PLAUR,
MBD3,
POMC,
PON1,
RBFOX1,
AHI1,
PRKCB,
PRL,
PRLR,
PTEN,
PTGS2,
NLGN4X,
PCDH10,
CHD8,
BCL2,
ROBO2,
RORA,
RPL10,
BDNF,
SCT,
ROBO3,
SLC1A3,
SLC6A8,
SLC19A1,
TF,
TNFRSF1B,
C4B,
TSC2,
UBE2H,
VLDLR,
WNT2,
XDH,
XPC,
CACNA1C,
SLC25A12,
NRP2,
SYNGAP1,
MBD4,
TAF1C,
RNF8,
SEMA5A,
NRXN1,
FOXP2,
GABBR2,
CUL7,
FARP2
|
C0004936
|
Mental Disorders
|
COMT,
MAOA,
POMC,
TRPC6
|
C0005586
|
Bipolar Disorder
|
CPLX2,
MGAT4A,
COMT,
NCAN,
ADRBK2,
DGKH,
PRSS35,
TENM4,
LAMP3,
TRIM42,
ANK3,
NR3C1,
GSK3B,
INS,
MTHFR,
NDUFV2,
NTRK1,
NTRK2,
SERPINA1,
POMC,
BDNF,
S100B,
SLC5A3,
SNAP25,
TCF7L2,
TRPC3,
CACNA1C,
CACNB3,
TOP6BL,
MCTP1,
LMAN2L,
NUMB,
CTSF,
CDC25B
|
C0008073
|
Developmental Disabilities
|
STAMBP,
CNTN4,
DRD2,
LRP2,
NTRK2,
PMP22,
PTEN,
SLC2A1,
SLC6A8,
DOCK8,
SLC4A4,
SLC33A1
|
C0008074
|
Child Development Disorders, Pervasive
|
LAMC3,
CIRBP,
PTCHD1,
UPP2,
DHCR24,
DIO2,
DLG4,
DPP6,
DPYD,
HEY1,
FOXP1,
ANKRD11,
GTF2I,
HFE,
ITGB3,
MEF2C,
MTNR1A,
MTNR1B,
OXTR,
PCDH9,
LRRN3,
MKL2,
NLGN4X,
CHD8,
RYR2,
BDNF,
SOX9,
TBL1X,
NRXN1
|
C0009241
|
Cognition Disorders
|
COMT,
DRD2,
EIF2S1,
FMR1,
AFF4,
APOE,
IGF2,
APP,
SMAD4,
MET,
OXTR,
PTGS2
|
C0011269
|
Dementia, Vascular
|
SYK
|
C0011581
|
Depressive Disorder
|
TPH2,
ALB,
ACSL4,
FGF2,
FGFR1,
CADM1,
FTH1,
FTL,
GLO1,
GNB1,
NR3C1,
GSK3B,
HTR7,
IL6,
MIF,
MTHFR,
NPY1R,
GHRL,
POMC,
PON1,
PTGS2,
BDNF,
S100A10,
SNAP25
|
C0013473
|
Eating Disorders
|
FLNB
|
C0019337
|
Heroin Dependence
|
DRD2,
LEP,
NGF,
POMC,
RETN,
BDNF,
ADIPOQ
|
C0020179
|
Huntington Disease
|
CNR1,
RCAN1,
HTT,
MAOA,
MAOB,
IP6K2,
SLC2A3,
AIFM1
|
C0020796
|
Profound Mental Retardation
|
MTR
|
C0021122
|
Disruptive, Impulse Control, And Conduct Disorders
|
DRD2,
FOSB
|
C0022336
|
Creutzfeldt-Jakob Disease
|
MSL3P1,
ALDH1A1,
ATF6,
HLA-DQB1,
PRNP,
TUBB2A,
HIST1H4A
|
C0023186
|
Learning Disorders
|
SIGMAR1,
HMOX1,
HTR7,
APOD,
APP,
IL1B,
IL1RN,
MAPT,
PARK2,
PSEN1,
BCL2,
TH,
TRH,
VEGFA
|
C0024809
|
Marijuana Abuse
|
CNR1,
AKT1,
FDFT1,
APOL2,
CALM2,
SCARB1
|
C0026552
|
Morphine Dependence
|
CREB1,
GRIN2A,
MMP9,
OPRL1
|
C0026613
|
Motor Skills Disorders
|
FGFR2,
CLN6,
PTEN
|
C0027404
|
Narcolepsy
|
CHKB,
CPT1B,
CTSH,
HLA-DQB1,
HLA-DRB1,
PENK,
TRB ,
TRH,
TNFSF4,
SOCS2
|
C0027412
|
Opioid-Related Disorders
|
BMPER,
ME2,
PENK
|
C0028768
|
Obsessive-Compulsive Disorder
|
BDNF,
CCKBR
|
C0030319
|
Panic Disorder
|
COMT,
INS,
SDK2,
ANO2,
CCKBR
|
C0031391
|
Phencyclidine Abuse
|
FDFT1,
APOL2,
CALM2,
SCARB1
|
C0033941
|
Psychoses, Substance-Induced
|
ACE,
AKT1,
ESR1,
GSTP1,
NPY1R,
PHB,
SNCA,
SOD2
|
C0033953
|
Psychosexual Disorders
|
CYP2D6,
CYP17A1,
PRL
|
C0033975
|
Psychotic Disorders
|
TOMM40,
CPLX2,
TRIM9,
BIN1,
NR3C1,
NTRK1,
SLC24A3,
BDNF,
SNAP25,
COL21A1,
SELENBP1
|
C0035258
|
Restless Legs Syndrome
|
BTBD9,
MEIS1,
POMC,
MAP2K5,
PTPRD,
TF
|
C0036341
|
Schizophrenia
|
AKT3,
CDH13,
MPHOSPH9,
CELF2,
CHL1,
SDCCAG8,
CPLX2,
CHD4,
CHI3L1,
ADCY7,
SLC26A7,
AGAP1,
CLCN3,
BORCS7,
CNR1,
COL3A1,
COMT,
SLCO6A1,
ZNF565,
CNTN4,
DLG1,
DPYD,
DRD2,
EIF5,
AKT1,
HNRNPA3,
FGFR1,
TRAK1,
IGSF9B,
PLCL2,
PLCB1,
TMEM245,
APOL2,
QPCT,
GIGYF2,
SELENOH,
ANK3,
GRB10,
GRIN2A,
NR3C1,
SAP30BP,
GRM3,
GSK3B,
NRG1,
HINT1,
HLA-DRB1,
HP,
HRH1,
HTR7,
APOE,
IL1B,
IL6,
IL6R,
INPP5A,
STT3A,
KPNA1,
LAMA2,
MIR137HG,
MAOB,
MC4R,
MET,
MTHFR,
NDUFV2,
NFKB1,
ATP2A2,
NTRK1,
OXTR,
FURIN,
PAK2,
PCM1,
SDF4,
PHB,
PIK3C2A,
PIK3CB,
PLXNA2,
CNNM2,
AHI1,
SBNO1,
LGR4,
GALNT10,
WDR11,
VPS35,
PAG1,
PRKD1,
PRODH,
CYP26B1,
OTUD7B,
RTN4,
PTGIS,
AS3MT,
GRAMD1B,
NLGN4X,
ZSWIM6,
RGS4,
RGS12,
BDNF,
CCL2,
SRSF1,
CSMD1,
SLC6A1,
SRPK2,
SYN2,
TCF4,
BTG1,
TCF20,
THBS1,
TNF,
TP53,
TRIM26,
CACNA1C,
THOC7,
NRIP1,
TRRAP,
CASP4,
MAD1L1,
TMTC1,
APOPT1,
CUL3,
SELENBP1,
TSPAN18,
CEACAM21,
C12orf65,
ZNF804A,
SNX29,
NRXN1,
FEZ1,
RB1CC1,
ZEB2
|
C0036346
|
Schizophrenia, Childhood
|
PDZRN3,
HSPG2,
ARL16,
ITGA6,
MEST,
PTGIS,
RELA,
RYR2
|
C0036349
|
Paranoid Schizophrenia
|
DPYSL2
|
C0037316
|
Sleep Deprivation
|
PTGS1
|
C0038273
|
Stereotypic Movement Disorder
|
MEF2C,
TRH
|
C0038436
|
Post-Traumatic Stress Disorder
|
PRTFDC1,
LGR6
|
C0038580
|
Substance Dependence
|
SH3BP5
|
C0038587
|
Substance Withdrawal Syndrome
|
ARL6IP5,
CHRNA5,
CHRNA7,
CNR1,
ADORA1,
CREB1,
CRP,
DRD2,
FOS,
GNAI1,
GNAS,
GRIN2A,
HRH1,
HTR2C,
MMP9,
NPTX2,
NPY2R,
OPRL1,
PER1,
POMC,
MAPK1,
MAPK3,
PRL,
BDNF,
SLC6A1,
CCKBR
|
C0040336
|
Tobacco Use Disorder
|
CHRNA5,
CHRNA7,
CYP2A6,
DRD2,
AHR,
LCP1,
BDNF
|
C0043121
|
Wernicke Encephalopathy
|
TKT
|
C0149654
|
Conduct Disorder
|
C1QTNF7
|
C0234985
|
Mental Deterioration
|
TOMM40,
SLCO6A1,
APOC1,
APOE
|
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
|
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
|
C0242350
|
Erectile Dysfunction
|
EDN1,
EDNRA,
NOS3,
PRL,
BCL2,
SHBG,
VEGFA
|
C0282513
|
Primary Progressive Aphasia (Disorder)
|
GRN
|
C0338451
|
Frontotemporal Dementia
|
GRN,
MAPT,
PSEN1
|
C0338462
|
Semantic Dementia
|
GRN,
MAPT,
PSEN1,
VCP
|
C0349231
|
Phobic Anxiety Disorder
|
PRL
|
C0349464
|
Wernicke-Korsakoff Syndrome
|
TKT
|
C0476254
|
Dyslexia
|
DCDC2
|
C0497327
|
Dementia
|
OSBPL1A,
DNMT1,
GRN,
APP,
MAPT
|
C0525045
|
Mood Disorders
|
DCTN1
|
C0600427
|
Cocaine Dependence
|
NCOR2,
FAM53B
|
C0751072
|
Frontotemporal Lobar Degeneration
|
SIGMAR1,
TARDBP,
GRN,
TMEM106B
|
C0751208
|
Juvenile Huntington Disease
|
HTT
|
C0751362
|
Narcolepsy-Cataplexy Syndrome
|
CTSH,
HLA-DQB1,
HLA-DRB1,
TNFSF4
|
C0751706
|
Primary Progressive Nonfluent Aphasia
|
GRN,
MAPT,
PSEN1,
VCP
|
C0752347
|
Lewy Body Disease
|
EDN1,
APOE,
IGF1R,
IGF2,
IGF2R,
INS,
INSR,
MAG,
NGF,
NTRK1,
NTRK2,
SNCA,
SOD2
|
C0917799
|
Hypersomnia
|
LINC02112
|
C1263846
|
Attention Deficit Hyperactivity Disorder
|
GPC6,
CPLX2,
TPH2,
CNR1,
COMT,
PIWIL4,
AK8,
DPP6,
DRD2,
EMP2,
ITGA11,
ADGRL3,
GIT1,
GRM8,
ITGAE,
MIR99AHG,
STS,
MAN2A2,
PTPRD
|
C1269683
|
Major Depressive Disorder
|
TPH2,
CYP2D6,
ITGA11,
FKBP5,
PDZD2,
PCLO,
GMPR,
GNAI3,
MPO,
MYO10,
ATP6V1B2,
ENOX1,
SOD2,
XDH,
ANKRD27
|
C1270972
|
Mild Cognitive Disorder
|
APP
|
C1456784
|
Paranoia
|
HSD3B2,
ICE2,
MANEA
|
C2267227
|
Bulimia Nervosa
|
CHODL,
BDNF
|
C3714756
|
Intellectual Disability
|
FRY,
CHL1,
ASCC3,
CAPN10,
ERLIN2,
MAN1B1,
C12orf57,
ZNF526,
RAB39B,
SLC31A1,
PTCHD1,
PARP1,
CCBE1,
ADRA2B,
DYNC1H1,
EEF1B2,
FASN,
FGFR2,
FOXG1,
CIC,
FMR1,
FOLR1,
GNAS,
WDR62,
HEXA,
APC,
NDST1,
INPP4A,
LETM1,
MEF2C,
ASCL1,
NAGLU,
SCAPER,
LARP7,
PMM2,
TMCO1,
AHI1,
GON4L,
LINS1,
BBS7,
RABL6,
POLR3B,
INPP5E,
PTEN,
RALGDS,
KDM5A,
RGS7,
BDNF,
SC5D,
TMEM135,
SLC2A1,
TH,
VRK1,
YY1,
CA8,
COL18A1,
DOCK8,
MFSD2A,
PRKRA,
SYNGAP1,
CCNA2,
CACNA1G,
NRXN1,
HDAC4,
ZBTB40
|
C4041080
|
Neurocognitive Disorders
|
INS
|
C4042891
|
Sleep Wake Disorders
|
HTR7,
IL1B,
POMC
|