UMLS CUI |
UMLS Term |
Proteins |
C0001125
|
Acidosis, Lactic
|
PDHA1,
PLAT
|
C0001126
|
Renal Tubular Acidosis
|
SLC4A4
|
C0001627
|
Congenital Adrenal Hyperplasia
|
CYP17A1,
CYP21A2,
HSD3B2,
AVPR2,
PRKAR1A,
PDE8B
|
C0002063
|
Alkalosis
|
AGT
|
C0002066
|
Alkaptonuria
|
HGD
|
C0002514
|
Amino Acid Metabolism, Inborn Errors
|
AHCY,
GCLC,
ALDH6A1,
EIF2AK4,
PRODH,
XPC,
SECISBP2,
SLC7A7
|
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
|
C0003868
|
Arthritis, Gouty
|
POMC
|
C0005859
|
Bloom Syndrome
|
BLM,
UNG
|
C0005944
|
Metabolic Bone Disorder
|
CYP2R1,
DHCR7,
ESR1,
GC,
ANKRD11,
IGF1,
KCNMA1,
LRP2,
MMP2
|
C0006663
|
Calcinosis
|
COL1A1,
DMD,
AHSG,
FCGR1A,
ALPL,
PYCARD,
IL1B,
IL18,
ITGB1,
ITGB2,
JAK2,
LCN2,
LSP1,
MMP2,
MMP9,
NOTCH1,
PDGFB,
PDGFRB,
POMC,
BGLAP,
CCL2,
SLC20A2,
SPP1,
TIMP1,
C6,
COL18A1,
KL
|
C0007001
|
Carbohydrate Metabolism, Inborn Errors
|
PRKAG3
|
C0007570
|
Celiac Disease
|
SH2B3,
DLEU1,
TAGAP,
NKAIN2,
ETS1,
FRMD4B,
HLA-DQA1,
HLA-DQB1,
LPP,
MYO9B,
PPP1R12B,
MYNN,
ZMIZ1,
ARHGAP31,
PTPN2,
BACH2,
TGM2,
WNT3,
MMEL1,
RUNX3,
IL18R1,
ELMO1
|
C0008384
|
Cholesterol Ester Storage Disease
|
LIPA
|
C0009405
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
MLH3,
MSH6,
APC,
EPCAM,
MLH1,
MSH2,
TGFBR2
|
C0010691
|
Cystinuria
|
SLC7A9
|
C0011849
|
Diabetes Mellitus
|
CPT1A,
ADRB1,
CYBB,
FN1,
TMEFF2,
INS,
IRS1,
LEPR,
MAP3K5,
POMC,
PON1,
PPARG,
PTGS2,
RAC1,
AOC3,
ADIPOQ
|
C0011853
|
Diabetes Mellitus, Experimental
|
PPARGC1A,
CHRM2,
CPT1A,
CPT1B,
ADRA1A,
CYBB,
CYP1A1,
ADRB3,
ACE,
NQO1,
AGT,
EDN1,
ESRRA,
ACSL1,
FOXO3,
GPD2,
GPX1,
GSR,
HK1,
HMOX1,
HSD11B1,
IAPP,
ICAM1,
ID1,
IGF1,
FAS,
IL1B,
IL6,
INSR,
IRS1,
KCNJ11,
LEPR,
STS,
MAP3K5,
MFGE8,
MMP2,
MMP9,
MPO,
ATF3,
NOS3,
ATP2A2,
SERPINE1,
ACOX1,
PCK1,
PDK4,
PPARA,
PPARG,
PRKCA,
PRKCD,
PTGS2,
GPAM,
BAX,
BCL2,
RELA,
S100A6,
CCL20,
SLC2A4,
SNAP25,
SOD2,
SREBF1,
TGFB1,
TIMP1,
TIMP2,
TNF,
TP53,
UCP2,
VEGFA,
YWHAH,
CAV1,
AOC3,
AIFM1,
CD68
|
C0011854
|
Diabetes Mellitus, Insulin-Dependent
|
SH2B3,
PHTF1,
CHRM2,
GAB3,
CRP,
CTSH,
DDIT3,
GLIS3,
ERBB3,
PRKD2,
PTPN22,
HLA-DQA1,
HLA-DQB1,
HLA-DRA,
HLA-DRB1,
HP,
HSD11B2,
IGF1,
IGF2,
IL10,
INS,
ITPR3,
KCNJ11,
CENPW,
NOS3,
PAX4,
FOXP3,
PGM1,
MEG3,
GSDMB,
PRKCQ,
PTPN2,
BACH2,
CCL20,
IKZF4,
SLC11A1,
ZFP36L1,
STAT3,
HNF1A,
TNF,
NAA25,
SKAP2,
AIFM1
|
C0011859
|
Lipoatrophic Diabetes Mellitus
|
FOS,
PPARG,
CAV1
|
C0011860
|
Diabetes Mellitus, Non-Insulin-Dependent
|
MPHOSPH9,
AP3S2,
MAEA,
CDO1,
HMG20A,
IGF2BP2,
PPARGC1A,
KCNQ1OT1,
FAF1,
CAPN10,
OSBPL1A,
ARAP1,
CPT1A,
SLC30A8,
GLIS3,
ECE1,
EDN1,
EDNRA,
EGFR,
AKT2,
JAZF1,
GPSM1,
GCG,
GNB3,
GPD2,
GRK5,
GPX1,
GRB14,
GSTM1,
HBA1,
HHEX,
HK1,
HMGA1,
HMOX1,
HP,
IAPP,
ICAM1,
ID1,
FAS,
IL6,
INS,
INSR,
IRS1,
KCNJ11,
LEP,
LEPR,
MTNR1B,
ATF3,
NFKB1,
NOS3,
NOTCH2,
ATP2A2,
PAM,
PAX4,
ENPP1,
POU5F1,
PPARA,
PPARG,
CDKAL1,
PPP1R3A,
ITLN1,
PRKCB,
PROX1,
RETN,
ADAMTS9,
ZMIZ1,
PTPRD,
RBMS1,
BCL2,
RELA,
RGS7,
RNF6,
ZFAND3,
S100A6,
THADA,
SHBG,
ST6GAL1,
SLC2A1,
SLC2A4,
SNAP25,
SOD2,
HNF1A,
TCF7L2,
TGFB1,
TIMP1,
TNF,
TNFRSF1B,
C3,
UBE2E2,
UCP2,
VEGFA,
FTO,
CMIP,
HMGA2,
CASP8,
IRS2,
CBS,
CCND2,
KCNK17,
PRC1,
DNER,
ADIPOQ,
TP53INP1,
MAPK8IP1,
VPS26A
|
C0011880
|
Diabetic Ketoacidosis
|
INS
|
C0012715
|
Iron Metabolism Disorders
|
FTL,
HMOX1,
TFRC
|
C0015624
|
Fanconi Syndrome
|
GPX3
|
C0015625
|
Fanconi Anemia
|
ERCC4,
FANCD2,
FANCE,
FANCB,
FANCG,
UBE2T,
FANCI,
FANCM,
RAD51C,
BRCA2,
TNF
|
C0016412
|
Folic Acid Deficiency
|
DHFR
|
C0016719
|
Friedreich Ataxia
|
FXN
|
C0016756
|
Fructose-1,6-Diphosphatase Deficiency
|
FBP1
|
C0016788
|
Fucosidase Deficiency Disease
|
FUCA1
|
C0016952
|
Galactosemias
|
GALE,
GALT
|
C0017205
|
Gaucher Disease
|
CHIT1,
ACE,
SNCA
|
C0017919
|
Glycogen Storage Disease
|
PHKA2
|
C0017920
|
Glycogen Storage Disease Type I
|
G6PC
|
C0017921
|
Glycogen Storage Disease Type Ii
|
GAA
|
C0017922
|
Glycogen Storage Disease Type Iii
|
AGL,
GBE1
|
C0017923
|
Glycogen Storage Disease Type Iv
|
GBE1
|
C0017924
|
Glycogen Storage Disease Type V
|
ACE,
PYGM
|
C0017927
|
Glycogen Storage Disease Type Viii
|
PHKA2
|
C0018099
|
Gout
|
ALDH16A1,
FGFR2,
IL1B,
CD14
|
C0018995
|
Hemochromatosis
|
SLC40A1,
HFE,
HP,
SLC11A2,
HAMP,
BMP2,
BMP6,
TFR2,
TNF
|
C0019151
|
Hepatic Encephalopathy
|
GC,
MAOA,
MAOB,
PRKDC,
TSPO,
TNF
|
C0019202
|
Hepatolenticular Degeneration
|
AHCY,
A2M,
ANXA5,
APOE,
IL6,
CXCL8,
IL10,
LOX,
LOXL2,
NDUFB7,
PPP3CA,
PRNP,
HAMP,
SNCA,
TIMP1,
TNF
|
C0019880
|
Homocystinuria
|
CBS
|
C0020437
|
Hypercalcemia
|
CYP27B1,
IL6,
TNFRSF11B,
PTH,
PTHLH,
TNF,
TNFSF11,
KL
|
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
|
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
|
C0020557
|
Hypertriglyceridemia
|
APOA5,
CRP,
APOB,
INS,
LPL,
PPARA,
LMF1,
ZPR1
|
C0020597
|
Hypobetalipoproteinemias
|
APOB
|
C0020598
|
Hypocalcemia
|
POMC,
PTH
|
C0020615
|
Hypoglycemia
|
GSR,
IGF2,
IL1B,
INS,
SERPINA1,
PPARA,
SOD2,
HNF1A,
TNF,
CACNA1C
|
C0020621
|
Hypokalemia
|
ADRB2,
AGT,
NR3C1,
INS,
NPPB,
POMC
|
C0020625
|
Hyponatremia
|
TRPV4
|
C0020725
|
Type Ii Mucolipidosis
|
GNPTAB
|
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
|
C0022541
|
Kearns-Sayre Syndrome
|
IL1A,
IL1B
|
C0022797
|
Adult Neuronal Ceroid Lipofuscinosis
|
CLN6
|
C0023264
|
Leigh Disease
|
MTFMT,
NDUFAF6,
DLD,
ECHS1,
NDUFA2,
NDUFS2,
NDUFS4,
NDUFS8,
TACO1,
POLG,
BCS1L,
SDHA,
NDUFAF5,
NDUFAF2
|
C0023521
|
Globoid Cell Leukodystrophy
|
GALC
|
C0023522
|
Leukodystrophy, Metachromatic
|
ARSA
|
C0023772
|
Lipid Metabolism, Inborn Errors
|
DECR1,
PRKAG3
|
C0023787
|
Lipodystrophy
|
PARP2,
POLD1
|
C0023794
|
Lipoidosis
|
DEPP,
AP1S1,
SERPINA3,
NUPR1,
LSS,
ASAH1,
ASNS,
PPARG,
WIPI1,
SCD,
FNDC4,
SLC2A3,
TAGLN,
NR0B2,
FADS2
|
C0023801
|
Lipomatosis
|
PTEN
|
C0023806
|
Lipomucopolysaccharidosis
|
NEU1
|
C0023817
|
Hyperlipoproteinemia Type I
|
LPL
|
C0024523
|
Malabsorption Syndrome
|
SLC46A1
|
C0024748
|
Alpha-Mannosidosis
|
MAN2B1
|
C0024776
|
Maple Syrup Urine Disease
|
DBT,
DLD,
BCKDHA,
BCKDHB
|
C0025517
|
Metabolic Diseases
|
CRP,
AHR,
ESRRA,
ETFDH,
INS,
PPARG
|
C0025521
|
Inborn Errors Of Metabolism
|
DHFR,
LDHB,
LEPR,
MYO5B,
PLA2G4A,
ABCD4,
SLC2A1,
TPI1,
PLA2G7
|
C0026706
|
Mucopolysaccharidosis Iii
|
HGSNAT,
GNS,
NAGLU,
SGSH
|
C0026707
|
Mucopolysaccharidosis Iv
|
GALNS
|
C0026709
|
Mucopolysaccharidosis Vi
|
ARSB
|
C0027709
|
Nephrocalcinosis
|
SLC26A1,
POMC
|
C0027773
|
Nesidioblastosis
|
KCNJ11
|
C0027877
|
Neuronal Ceroid-Lipofuscinoses
|
TPP1,
CLN3,
ATP13A2,
CLN6
|
C0028754
|
Obesity
|
GPC6,
NAMPT,
INADL,
FARS2,
CHL1,
SDCCAG8,
ALDH1L1,
ADCY9,
ADH1B,
CNR1,
PPARGC1B,
COX7C,
CPB2,
CPE,
SGCZ,
CRP,
PARP1,
SERPINA12,
CTF1,
CTSS,
CYB5A,
ADRB1,
ADRB2,
ADRB3,
CYP2E1,
LINGO2,
NQO1,
DYNC1I1,
DPYD,
AGRP,
ECHS1,
EP300,
ERBB3,
AKT1,
ESR1,
ETFDH,
ETV5,
F2,
ACSL1,
FASN,
IGSF9B,
FOXO3,
MPRIP,
FBXL7,
FTL,
RICTOR,
SH2B1,
MOXD1,
TENM4,
GCG,
GFPT1,
GH1,
AFF4,
GNAS,
GNB3,
GPX1,
GPX3,
HADH,
HMGB2,
HMOX1,
ACACB,
HOXB5,
HSD11B1,
HTR2C,
ICA1,
ICAM1,
FAM19A2,
IFI16,
APOE,
IGF2,
IGFBP2,
IL6,
INS,
IRS1,
ITPR1,
ITPR3,
KCNMA1,
MIR99AHG,
LDLR,
LEP,
LEPR,
LPL,
MIR21,
STS,
MC4R,
MMP9,
ALDH6A1,
MTNR1B,
PPP1R12B,
NAP1L1,
NCAM2,
NPC1,
NPY1R,
NPY5R,
NTRK2,
SERPINE1,
ARHGEF3,
SPOCK3,
PCDH9,
PCK1,
DCXR,
PCSK1,
ENPP1,
GHRL,
PFKFB3,
PLIN1,
CYCS,
POMC,
PPARA,
PPARD,
PPARG,
PRKAR2B,
MAP2K5,
CYP26B1,
INPP5E,
CAMK1D,
PTGS2,
BDNF,
SLC22A23,
SAT1,
SCNN1A,
GPSM3,
CSMD1,
ATPAF1,
SIM1,
BMP2,
NBEAL1,
SLC22A1,
SOD2,
SREBF1,
TF,
TFRC,
TNF,
TNFRSF1B,
TWIST1,
UCP1,
UCP2,
UCP3,
UQCRC2,
VLDLR,
TRPV1,
CA3,
CACNA2D1,
FTO,
PLEKHS1,
CCDC33,
ALPK1,
AKAP1,
CASP1,
NR0B2,
CCDC77,
GAS7,
KMO,
AKR1C3,
SUCLA2,
ZPR1,
SEMA5A,
SLC16A7,
DAPL1,
ADIPOQ,
CARTPT,
SDC3,
GREB1,
ARHGAP11A
|
C0028756
|
Obesity, Morbid
|
KCNMA1,
LEP,
LEPR,
PPARG,
BDNF,
UCP3
|
C0028860
|
Oculocerebrorenal Syndrome
|
OCRL
|
C0029456
|
Osteoporosis
|
TUBA1B,
CCT2,
TBC1D8,
MGLL,
OSBPL1A,
ANTXR2,
COL1A1,
COL1A2,
CYP19A1,
ENO1,
FGA,
FGB,
PGLS,
GAPDH,
GPD2,
GPX1,
ANXA2,
IDH2,
IL6,
IL6R,
LRP5,
PNP,
TNFRSF11B,
ALDH7A1,
OXCT1,
P4HB,
PKM,
POMC,
PSMA2,
PTH,
RAP1A,
SOD2,
TGFB1,
TLN1,
ACTG1,
TPI1,
TPM4,
VDR,
CA2,
PDLIM4,
TNFSF11,
KL,
WDR1
|
C0029458
|
Osteoporosis, Postmenopausal
|
COL1A2,
IL1B,
IL6,
PTH,
TGFB1,
TNF
|
C0031485
|
Phenylketonurias
|
QDPR
|
C0032339
|
Rothmund-Thomson Syndrome
|
RECQL4
|
C0032897
|
Prader-Willi Syndrome
|
SNRPN
|
C0033300
|
Progeria
|
LMNA
|
C0033626
|
Protein Deficiency
|
GSR
|
C0033788
|
Pseudo-Hurler Polydystrophy
|
GNPTAB
|
C0033805
|
Pseudohypoaldosteronism
|
KLHL3,
GNAS,
SCNN1A,
SCNN1G,
WNK1
|
C0033806
|
Pseudohypoparathyroidism
|
GNAS
|