UMLS CUI |
UMLS Term |
Proteins |
C0001144
|
Acne Vulgaris
|
UBE2E1
|
C0001197
|
Acrodermatitis
|
SLC39A4
|
C0002170
|
Alopecia
|
PARP1,
BRD4,
AR,
MTHFR,
SRD5A2,
SUPV3L1,
VDR,
ZFP36
|
C0002171
|
Alopecia Areata
|
IKZF4,
ULBP3
|
C0002994
|
Angioedema
|
IFT43,
ALB,
HLA-DQB1,
HLA-DRB1,
PLAT
|
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
|
C0004943
|
Behcet Syndrome
|
HLA-B,
APOA1,
APOB,
ICAM1,
CXCL8,
IL10,
IL12A,
ITGB2,
SERPINE1,
ERAP1,
TLR4,
C4A,
KLRC4
|
C0005758
|
Bulla
|
ADAM17
|
C0006142
|
Malignant Neoplasm Of Breast
|
ZBED6,
COL1A1,
CTNNA2,
NEK10,
ERBB4,
AKT1,
FGFR2,
TOX3,
ITPR1,
LSP1,
MDM4,
NBN,
PDE4D,
PEX14,
PIGH,
PIK3CA,
ZMIZ1,
RAD51,
LGR6,
SIAH2,
BRCA1,
BRCA2,
TCF7L2,
TGFBR2,
FTO,
ARHGEF5,
MLLT10,
RNF146,
PRC1,
ZC3H11A
|
C0006845
|
Candidiasis, Chronic Mucocutaneous
|
TRAF3IP2,
CLEC7A
|
C0007302
|
Cartilage Diseases
|
COL11A2,
EDN1,
FGF14
|
C0011603
|
Dermatitis
|
PARP1,
HLA-B,
HLA-DQA1,
ITGB2,
PLA2G4A,
ZFP36
|
C0011609
|
Drug Eruptions
|
CYP1A1,
CYP2E1,
ALOX5,
HLA-B,
HLA-DQB1,
APOA1,
APOC3,
IL18,
KNG1,
MPO,
MTHFR,
C4B,
TTR
|
C0011615
|
Dermatitis, Atopic
|
KIF3A,
CCDC80,
HLA-B,
IL1B,
IL6,
IL10,
PBX2,
PPARA,
RNF111,
MAPK8,
EMSY,
S100A8,
CCL5,
GPSM3,
SELE,
SLC11A1,
TNXB,
IL18R1,
VNN1,
IL33
|
C0011616
|
Contact Dermatitis
|
KIF2C,
CTGF,
CTSS,
CYP1A1,
CYP1B1,
AKR1C2,
DDIT3,
NQO1,
DUSP1,
AHR,
FABP4,
SLC7A11,
FTH1,
G6PD,
GCLC,
GSR,
GSTP1,
NRG1,
HLA-DMA,
HMOX1,
HSPB1,
HSP90AA1,
IGFBP2,
IGFBP6,
IL18,
LCN2,
MMP8,
MMP10,
NQO2,
PSMD12,
BCL2,
S100A8,
SAA1,
SERPINB3,
SERPINB4,
SOD3,
TLR4,
TXN,
TXNRD1,
VEGFA,
CASP8,
CLDN1,
CXCL14,
PRDX6,
CD44,
HDAC4
|
C0011633
|
Dermatomyositis
|
HLA-B,
IL1A,
IL1B,
TNF
|
C0013312
|
Dupuytren Contracture
|
EPDR1,
TIMP2,
WNT2
|
C0013575
|
Ectodermal Dysplasia
|
ITGB4
|
C0013595
|
Eczema
|
CD14
|
C0013720
|
Ehlers-Danlos Syndrome
|
COL3A1
|
C0013903
|
Ellis-Van Creveld Syndrome
|
EVC
|
C0014518
|
Toxic Epidermal Necrolysis
|
HLA-B
|
C0014522
|
Epidermodysplasia Verruciformis
|
TMC6
|
C0014527
|
Epidermolysis Bullosa
|
ITGB4
|
C0014742
|
Erythema Multiforme
|
MASP2
|
C0015230
|
Exanthema
|
HLA-B,
MVK,
C1QA
|
C0016689
|
Freckles
|
EIF6,
BNC2,
TYR
|
C0018418
|
Gynecomastia
|
PRL
|
C0018500
|
Hair Diseases
|
EIF2AK4
|
C0019243
|
Angioedemas, Hereditary
|
KNG1,
SERPING1
|
C0019572
|
Hirsutism
|
POMC,
CACNA1G
|
C0019880
|
Homocystinuria
|
CBS
|
C0020620
|
Hypohidrosis
|
COG6
|
C0020678
|
Hypotrichosis
|
LIPH
|
C0020757
|
Ichthyoses
|
SUPV3L1
|
C0022548
|
Keloid
|
CLIC1,
COL1A1,
COL3A1,
COL5A1,
MYL6B,
EIF5A,
ALB,
FGG,
FTH1,
FTL,
SFN,
LGALS1,
ARHGDIA,
MIF,
PRDX1,
SERPINF1,
PFN1,
SERPINB5,
MYDGF,
S100A4,
S100A8,
S100A9,
S100A10,
FOXL2,
TAGLN,
PRDX2,
TPM1,
CAPG
|
C0022593
|
Keratosis
|
MPO,
TP53
|
C0022595
|
Keratosis Follicularis
|
ATP2A2
|
C0022603
|
Seborrheic Keratosis
|
PIK3CA
|
C0023281
|
Leishmaniasis
|
CRP,
IL6,
IL10,
IL18,
TNF
|
C0023283
|
Leishmaniasis, Cutaneous
|
IL1B,
CXCL8,
IL10,
MMP2,
CCL2,
TNF
|
C0023787
|
Lipodystrophy
|
PARP2,
POLD1
|
C0023801
|
Lipomatosis
|
PTEN
|
C0023931
|
Lobstein'S Disease
|
COL1A1,
COL1A2
|
C0024141
|
Lupus Erythematosus, Systemic
|
SH2B3,
CDKN1B,
IKZF1,
CLU,
SLC15A4,
CREBL2,
CRP,
CSK,
ETS1,
FCGR2A,
FCGR2B,
JAZF1,
ANKS1A,
TNPO3,
PTPN22,
FAM98B,
ANXA3,
HIP1,
HLA-DQA1,
HLA-DRB1,
IL6,
IL10,
ITGAM,
ITGAX,
PXK,
PRL,
PTGS2,
PHRF1,
CFB,
TLR5,
C1QA,
TNFAIP3,
TNXB,
C4A,
TNFSF4,
DDA1,
KIAA0319L,
ARID5B
|
C0024143
|
Lupus Nephritis
|
SLC5A11,
FCGR3B,
MMP2,
MMP9,
NIN,
SERPING1
|
C0024796
|
Marfan Syndrome
|
FBN1,
LAMC1,
MMP2,
MMP9,
SOD2,
TGFBR2
|
C0024894
|
Mastitis
|
CXCR2
|
C0026691
|
Mucocutaneous Lymph Node Syndrome
|
FCGR2A,
TECRL,
CENPU,
MED30
|
C0026706
|
Mucopolysaccharidosis Iii
|
HGSNAT,
GNS,
NAGLU,
SGSH
|
C0026707
|
Mucopolysaccharidosis Iv
|
GALNS
|
C0026709
|
Mucopolysaccharidosis Vi
|
ARSB
|
C0027339
|
Nail Diseases
|
LAMA3,
FZD6
|
C0027706
|
Hereditary Nephritis
|
COL4A3,
MYH9
|
C0028326
|
Noonan Syndrome
|
KAT6B,
KRAS,
NRAS,
MAP2K1,
MAP2K2,
PTPN11,
RAF1,
RASA2,
RIT1,
SOS1,
SOS2
|
C0028796
|
Dermatitis, Occupational
|
ALDH2,
HLA-DMA
|
C0029434
|
Osteogenesis Imperfecta
|
CRTAP,
COL1A1,
COL1A2,
SPARC
|
C0029455
|
Osteopoikilosis (Disorder)
|
LEMD3
|
C0030328
|
Panniculitis, Nodular Nonsuppurative
|
SERPINA1
|
C0030360
|
Papillon-Lefevre Disease
|
CTSC
|
C0030491
|
Parapsoriasis
|
HLA-A,
HLA-E
|
C0030804
|
Pemphigoid, Benign Mucous Membrane
|
PTGER3
|
C0030805
|
Bullous Pemphigoid
|
HLA-DQB1,
HLA-DRB1,
CXCL8
|
C0030807
|
Pemphigus
|
C3
|
C0030848
|
Peyronie Disease
|
TGFB1
|
C0031269
|
Peutz-Jeghers Syndrome
|
STK11
|
C0032339
|
Rothmund-Thomson Syndrome
|
RECQL4
|
C0033774
|
Pruritus
|
F2RL1,
HRH1,
SCN9A
|
C0033847
|
Pseudoxanthoma Elasticum
|
ENPP1,
XYLT2
|
C0033860
|
Psoriasis
|
CARM1,
TRAF3IP2,
HCP5,
TAGAP,
ZNF816,
CRP,
FUT2,
HLA-C,
APOE,
IL1B,
IL6,
MKI67,
PCNA,
ERAP1,
PPARG,
VNN3,
EXOC2,
RNF114,
ZMIZ1,
REL,
REV3L,
S100A7,
CSMD1,
SOD2,
STAT2,
STAT3,
TGFA,
TNF,
TNFAIP3,
TP53,
VEGFA,
CAST,
ZC3H12C,
RUNX3,
SOCS1,
VNN1,
PTTG1,
KIAA0391,
ELMO1
|
C0036420
|
Localized Scleroderma
|
LMNA,
TNF
|
C0036421
|
Systemic Scleroderma
|
JAZF1,
ANKS1A,
TNPO3,
GRB10,
HLA-DPA1,
HLA-DQB1,
HLA-DRA,
ITGAM,
RHOB,
PXK,
KIAA0319L
|
C0036830
|
Serum Sickness
|
ALB
|
C0037231
|
Sjogren-Larsson Syndrome
|
ALDH3A2
|
C0037268
|
Skin Abnormalities
|
ERCC2,
FGFR2,
IRF6,
SOD2,
SUPV3L1
|
C0037274
|
Dermatologic Disorders
|
N4BP2L2,
ERCC2,
FGFR2,
RUFY3,
TNIK,
GOLGA4,
CXCL2,
GSTM1,
TRA2A,
HSPA1B,
ID2,
IL1A,
IL1B,
IL1R1,
IL1RN,
IL6,
MTHFR,
GADD45B,
NDUFB8,
NR4A2,
PFKFB3,
ZFAND6,
ZNF331,
MMP26,
PELI1,
PTEN,
PTGS2,
PTX3,
CCL4,
CCL20,
SFPQ,
SKIL,
SOD2,
SSBP1,
TRAPPC10,
TNF,
TNFAIP6,
UBE2E1,
TAF1D,
IER3,
USP13,
CD83,
KL,
GSTO1,
MINPP1,
CD44
|
C0037286
|
Skin Neoplasms
|
ERBB4,
ERCC2,
AKT1,
POT1,
GJA1,
GLI2,
GYPA,
HIF1A,
IGF1R,
IL1A,
AQP3,
KRT1,
KRT17,
MMP9,
ODC1,
PPARD,
PTCH1,
PTGS2,
RELA,
SOD2,
TGFB1,
TGFBR1,
TP53,
TYR,
XPA,
CASP8
|
C0037299
|
Skin Ulcer
|
ITGB2,
LAMA3,
NGF
|
C0038325
|
Stevens-Johnson Syndrome
|
IKZF1,
CELF2,
PARP1,
CTNNB1,
EP300,
ALB,
HLA-A,
HLA-B,
HLA-C,
MIF,
NUCB1,
PTGER3,
PTGIS,
RB1,
VCP,
CUL4A,
CAV1,
ELMO1,
RBX1
|
C0038814
|
Sunburn
|
ERCC2,
TYR
|
C0039263
|
Takayasu Arteritis
|
HLA-B,
MLX
|
C0039483
|
Giant Cell Arteritis
|
PTPN22
|
C0041409
|
Turner Syndrome, Male
|
PTPN11
|
C0041834
|
Erythema
|
ACSL4
|
C0042109
|
Urticaria
|
ALB,
ALOX5,
GSTM1,
HLA-DQB1,
HLA-DRB1,
HNMT,
ICAM1,
IL1B,
IL18,
MPO,
SELE,
TGFB1,
TNF,
VCAM1
|
C0042900
|
Vitiligo
|
SH2B3,
TOB2,
PTPN22,
FOXP1,
LPP,
RERE,
ZMIZ1,
BACH2,
SMOC2,
IKZF4,
SLC1A2,
TYR,
RNASET2,
CD44
|
C0043346
|
Xeroderma Pigmentosum
|
POLH,
XPA
|
C0078918
|
Albinism, Oculocutaneous
|
MITF,
TYR
|
C0079153
|
Hyperkeratosis, Epidermolytic
|
ERCC2,
KRT1
|
C0079294
|
Epidermolysis Bullosa Dystrophica
|
MMP1
|
C0079298
|
Epidermolysis Bullosa Simplex
|
ITGB4
|
C0079301
|
Junctional Epidermolysis Bullosa
|
ITGB4,
LAMA3
|
C0079474
|
Hallopeau-Siemens Disease
|
MMP1
|
C0079588
|
Ichthyosis, X-Linked
|
STS
|
C0079683
|
Herlitz Disease
|
LAMA3
|
C0080024
|
Piebaldism
|
KIT,
SNAI2
|
C0080333
|
Weber-Cockayne Syndrome
|
ITGB4
|
C0085106
|
Familial Benign Pemphigus
|
ATP2C1
|
C0085568
|
Buruli Ulcer
|
SLC11A1
|