| 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 |