| UMLS CUI |
UMLS Term |
Proteins |
|
C0001193
|
Apert Syndrome
|
FGFR2
|
|
C0001206
|
Acromegaly
|
GH1,
GNAS,
IGF1,
AIP
|
|
C0002382
|
Alveolar Bone Loss
|
ALPL,
TNFSF11
|
|
C0003090
|
Ankylosis
|
FGFR2
|
|
C0003706
|
Arachnodactyly
|
FBN1,
FZD4
|
|
C0003862
|
Arthralgia
|
MVK
|
|
C0003864
|
Arthritis
|
COPA,
REEP3,
JMJD1C,
HP,
TIMMDC1,
ZFP36,
VTCN1
|
|
C0003868
|
Arthritis, Gouty
|
POMC
|
|
C0003869
|
Arthritis, Infectious
|
TNF
|
|
C0003872
|
Arthritis, Psoriatic
|
TRAF3IP2,
HLA-C,
CXCL8,
NR4A2,
REL,
BMP4,
TNF,
RUNX2,
CD68
|
|
C0003873
|
Rheumatoid Arthritis
|
ABCC5,
CDK6,
ABCC4,
TXNIP,
B3GNT2,
PHTF1,
OS9,
TAGAP,
CRP,
HAPLN1,
CTGF,
CTSD,
CLYBL,
DHFR,
ACAN,
DPP4,
RCAN1,
AHR,
ENO1,
F2,
RTKN2,
FCGR2A,
JAZF1,
FKBP5,
PLCL2,
TNPO3,
PADI4,
ALOX5,
PHF19,
GART,
PTPN22,
GC,
RGMB,
GRK6,
CXCL2,
HCLS1,
ANXA3,
HLA-DQA2,
HLA-DRB1,
HOXD10,
HSD11B1,
IGFBP3,
CYR61,
IL1B,
IL1RN,
IL6,
IL6R,
IL6ST,
CXCL8,
IL10,
IL18,
IRAK1,
ITGA6,
AFF3,
LCN2,
MARCKS,
STS,
MIF,
MMP2,
MMP10,
MPO,
MTF1,
MTHFR,
NCF2,
NFKBIL1,
TNFRSF11B,
FOXP3,
CD244,
PON1,
POU3F1,
DDIT4,
PXK,
PRKCQ,
BAIAP2L1,
PTGS2,
PTK2,
PTPN2,
PTPRC,
RAP2A,
REL,
BGN,
CCL8,
CXCL6,
BMP4,
BMP6,
SLC11A1,
SOD2,
SUOX,
TLE3,
TLR2,
TMPO,
TNF,
TNFAIP2,
TNFAIP3,
TRAF1,
VEGFA,
CXCR4,
DDA1,
MMEL1,
ANKRD55,
TFPI2,
CALD1,
NR4A3,
ST6GALNAC5,
GDF5,
ARID5B,
MGARP,
B3GNT9,
PPIL4,
CAV2,
RUNX2,
SLC25A12,
RUNX1,
GGH,
C5orf30,
GPRC5A,
RABEP1,
CD83,
LHX2,
ADIPOQ,
CD28,
FADS2
|
|
C0004779
|
Basal Cell Nevus Syndrome
|
GLI2,
SUFU,
PTCH1
|
|
C0005940
|
Bone Diseases
|
JAG1,
LTBP3,
MMP2,
ALDH7A1,
TRPV4,
BMP2,
TGFBR2
|
|
C0005941
|
Bone Diseases, Developmental
|
KIF3A,
DLX5,
SLC26A2,
NIPBL,
AFF4,
SH3PXD2B,
IGF2,
MIR17HG,
PCSK5,
TMCO1,
TGFB2,
TRPS1,
CBFB,
ITGB1BP1
|
|
C0005942
|
Bone Diseases, Endocrine
|
PDGFA,
PTH
|
|
C0005944
|
Metabolic Bone Disorder
|
CYP2R1,
DHCR7,
ESR1,
GC,
ANKRD11,
IGF1,
KCNMA1,
LRP2,
MMP2
|
|
C0005967
|
Bone Neoplasms
|
MMP2,
MMP9,
PLAU,
PLOD2,
PTGS2,
TGFBR2,
NCOA3
|
|
C0005974
|
Bone Resorption
|
CYP19A1,
AHR,
CXCL2,
TNFRSF11B,
PTH,
PTHLH
|
|
C0007302
|
Cartilage Diseases
|
COL11A2,
EDN1,
FGF14
|
|
C0008925
|
Cleft Palate
|
SPRY2,
MTHFS,
DLG1,
FGF2,
FGF7,
FGF9,
FGFR1,
FGFR2,
IRF6,
MNT,
MTR,
MYC,
NOS3,
PDGFRA,
BNC2,
PTCH1,
SIM2,
SLC19A1,
TGFB1,
TGFB2,
TYMS,
FZD4,
CASK,
CBFB
|
|
C0008928
|
Cleidocranial Dysplasia
|
RUNX2
|
|
C0009081
|
Congenital Clubfoot
|
MTHFR
|
|
C0009917
|
Contracture
|
PRG4,
ANTXR2
|
|
C0010273
|
Craniofacial Dysostosis
|
FGFR2
|
|
C0010278
|
Craniosynostosis
|
ERF,
EZH2,
FGFR2,
IFT122,
WDR35,
BMP2,
TCF12,
TWIST1
|
|
C0010308
|
Congenital Hypothyroidism
|
DUOX2
|
|
C0011633
|
Dermatomyositis
|
HLA-B,
IL1A,
IL1B,
TNF
|
|
C0011989
|
Camurati-Engelmann Syndrome
|
TGFB1
|
|
C0012236
|
Digeorge Syndrome
|
COMT,
CRKL,
GP1BB,
TBX1,
HIRA,
UFD1L
|
|
C0013264
|
Muscular Dystrophy, Duchenne
|
POSTN,
DMD,
CCL2,
TGFB1,
CD4
|
|
C0013312
|
Dupuytren Contracture
|
EPDR1,
TIMP2,
WNT2
|
|
C0013336
|
Dwarfism
|
PLK4,
HAPLN1,
ORC1
|
|
C0013393
|
Dysostoses
|
ACTB
|
|
C0013903
|
Ellis-Van Creveld Syndrome
|
EVC
|
|
C0014084
|
Enchondromatosis
|
IDH1,
IDH2,
PTPN11
|
|
C0015306
|
Hereditary Multiple Exostoses
|
EXT1,
EXT2,
PTPN11
|
|
C0015814
|
Femur Head Necrosis
|
POMC
|
|
C0016037
|
Fibrodysplasia Ossificans Progressiva
|
ACVR1
|
|
C0016063
|
Osteitis Fibrosa Disseminata
|
FOS,
TRIM37
|
|
C0016064
|
Fibrous Dysplasia, Monostotic
|
GNAS
|
|
C0016065
|
Polyostotic Fibrous Dysplasia
|
GNAS
|
|
C0016508
|
Congenital Foot Deformity
|
LMNA,
PTHLH
|
|
C0018099
|
Gout
|
ALDH16A1,
FGFR2,
IL1B,
CD14
|
|
C0018522
|
Hallermann'S Syndrome
|
GJA1
|
|
C0018566
|
Congenital Hand Deformities
|
LMNA,
PTHLH,
SOX9
|
|
C0020492
|
Hyperostosis
|
PTH
|
|
C0020497
|
Cortical Congenital Hyperostosis
|
COL1A1
|
|
C0020725
|
Type Ii Mucolipidosis
|
GNPTAB
|
|
C0021818
|
Intervertebral Disk Displacement
|
COL11A1
|
|
C0022360
|
Jaw Abnormalities
|
OTX2,
PCSK5,
POLD1
|
|
C0022410
|
Joint Instability
|
COMP
|
|
C0022541
|
Kearns-Sayre Syndrome
|
IL1A,
IL1B
|
|
C0022821
|
Kyphosis Deformity Of Spine
|
PARP1,
SLC26A2,
LTBP3,
PLOD1
|
|
C0023003
|
Langer-Giedion Syndrome
|
EXT1,
TRPS1
|
|
C0023806
|
Lipomucopolysaccharidosis
|
NEU1
|
|
C0023931
|
Lobstein'S Disease
|
COL1A1,
COL1A2
|
|
C0024454
|
Maffucci Syndrome
|
IDH1,
IDH2
|
|
C0024507
|
Majewski Syndrome
|
NEK1
|
|
C0024689
|
Mandibular Diseases
|
MMP2
|
|
C0024796
|
Marfan Syndrome
|
FBN1,
LAMC1,
MMP2,
MMP9,
SOD2,
TGFBR2
|
|
C0024950
|
Maxillary Diseases
|
MMP2
|
|
C0025237
|
Melnick-Needles Syndrome
|
FLNA
|
|
C0025239
|
Melorheostosis
|
LEMD3
|
|
C0025958
|
Microcephaly
|
PQBP1,
STAMBP,
PLK4,
DYNC1H1,
FOXG1,
WDR62,
KIF5C,
MIR17HG,
ORC1,
SLC2A1,
TCF4,
BUB1B,
TUBG1,
MFSD2A,
CASK
|
|
C0026837
|
Muscle Rigidity
|
CYP2D6,
NTS,
PDE8B
|
|
C0026838
|
Muscle Spasticity
|
CNR1
|
|
C0026848
|
Myopathy
|
CTSB,
ALB,
FABP3,
HINT1,
HMGCR,
HTR7,
IL1B,
INS,
SMAD4,
MAOA,
EIF2AK4,
PPARA,
PYGM,
TGFB1,
TTN,
MEGF10
|
|
C0026850
|
Muscular Dystrophy
|
COL6A1,
DMD,
LAMA2,
SEPN1
|
|
C0027080
|
Myoglobinuria
|
LDHA
|
|
C0027121
|
Myositis
|
IGHG1,
IGKC,
IL1RN,
TARS
|
|
C0027122
|
Myositis Ossificans
|
ACVR1
|
|
C0027126
|
Myotonic Dystrophy
|
DMPK
|
|
C0028326
|
Noonan Syndrome
|
KAT6B,
KRAS,
NRAS,
MAP2K1,
MAP2K2,
PTPN11,
RAF1,
RASA2,
RIT1,
SOS1,
SOS2
|
|
C0028433
|
Nose Neoplasms
|
MMP2
|
|
C0029401
|
Osteitis Deformans
|
OPTN,
NUP205,
RIN3,
TNFRSF11A,
SQSTM1
|
|
C0029408
|
Degenerative Polyarthritis
|
PDCD6IP,
EDIL3,
SEC23A,
DUS4L,
CHI3L1,
CLU,
CLIC1,
COL1A2,
COL6A2,
COMP,
CTSD,
AKR1C1,
AKR1C2,
DDX3X,
DPYSL2,
EEF2,
ENO1,
AK4,
TRIM2,
FTL,
GAPDH,
HIBCH,
GNL3,
GLS,
CXCL2,
IDH2,
IL1B,
GSTK1,
LTBP3,
SMAD3,
NDUFS8,
OPA1,
PDHA1,
ATP6V1B2,
PLCD1,
PLOD2,
PPARG,
PPP2R1A,
PBRM1,
PSMB1,
TRPV4,
ACTB,
CXCL6,
SDCBP,
SDHA,
SLC2A1,
BMP4,
BMP6,
SOD2,
TGM2,
TXNRD1,
VDAC2,
EZR,
VIM,
TFPI2,
GDF5,
SUPT3H,
RUNX2,
ALDH1A2
|
|
C0029410
|
Osteoarthritis Of Hip
|
GDF5
|
|
C0029411
|
Osteoarthropathy, Primary Hypertrophic
|
HPGD
|
|
C0029421
|
Osteochondritis Dissecans
|
ACAN
|
|
C0029422
|
Osteochondrodysplasias
|
COL9A1,
COL11A1,
FLNA,
HSPG2,
SOST,
TRPV4,
BCL2,
TRAPPC2,
VEGFA
|
|
C0029423
|
Cartilaginous Exostosis
|
PTPN11
|
|
C0029434
|
Osteogenesis Imperfecta
|
CRTAP,
COL1A1,
COL1A2,
SPARC
|
|
C0029445
|
Bone Necrosis
|
MMP2
|
|
C0029454
|
Osteopetrosis
|
CLCN7,
TNFSF11
|
|
C0029455
|
Osteopoikilosis (Disorder)
|
LEMD3
|
|
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
|
|
C0029464
|
Osteosclerosis
|
LTBP3
|
|
C0031900
|
Pierre Robin Syndrome
|
SOX9
|
|
C0033788
|
Pseudo-Hurler Polydystrophy
|
GNPTAB
|
|
C0033806
|
Pseudohypoparathyroidism
|
GNAS
|
|
C0033835
|
Pseudopseudohypoparathyroidism
|
GNAS
|
|
C0035410
|
Rhabdomyolysis
|
INS
|
|
C0035579
|
Rickets
|
CYP27B1,
PTH,
VDR
|
|
C0035934
|
Rubinstein-Taybi Syndrome
|
CREBBP,
EP300
|
|
C0036391
|
Schwartz-Jampel Syndrome
|
HSPG2
|
|
C0036439
|
Scoliosis, Unspecified
|
NOTCH1
|
|
C0036996
|
Short Rib-Polydactyly Syndrome
|
NEK1
|
|
C0037932
|
Curvature Of Spine
|
IFT122
|
|
C0038013
|
Ankylosing Spondylitis
|
MICA,
ANTXR2,
ANO6,
HLA-A,
HLA-B,
ERAP1,
PTGER4,
IL1R2,
RUNX3
|