Search Diseases

Diseases

UMLS CUI UMLS Term Proteins

C0086647

Mucopolysaccharidosis Type Iiia

SGSH, GNPTAB

C0086648

Mps Iii B

NAGLU

C0086649

Mps Iii C

HGSNAT

C0086650

Mps Iii D

GNS

C0086651

Mucopolysaccharidosis, Mps-Iv-A

GALNS

C0162311

Androgenetic Alopecia

HDAC9

C0162531

Hereditary Coproporphyria

CPOX

C0162533

Porphyrias, Hepatic

ALAD

C0162566

Porphyria Cutanea Tarda

CPOX, HFE, UROD

C0162568

Erythropoietic Protoporphyria

EREG, AREG, BTC

C0162569

Hepatoerythropoietic Porphyria

UROD

C0162819

Skin Diseases, Vascular

F2

C0162820

Dermatitis, Allergic Contact

NAMPT, PRDX4, CTSC, FGL2, RAB32, CREM, CYP1A1, ETS2, F13A1, FCGR3B, PHLDA1, ABCA6, FYB, QPCT, IPCEF1, CXCL2, HSD11B1, IL1A, IL10, ITGAM, MXD1, MEOX1, MRC1, CNTN3, PLAT, BCL2, SAT1, SELE, ST6GAL1, SLC2A3, BMP6, SPP1, STAC, TNF, TNFAIP6, UPP1, ASRGL1, SLC7A5, CASP8, KMO, SOCS1, SOCS2, TMSB10, IL32, CD36

C0162823

Dermatitis, Irritant

CBR1

C0162834

Hyperpigmentation

RPL27A

C0162835

Hypopigmentation Disorder

GLI3, EPG5

C0162848

Lichenoid Eruptions

IL6, CXCL8

C0175704

Leopard Syndrome

PTEN, PTPN11, RAF1

C0206692

Carcinoma, Lobular

AGTR2, STAT5A

C0221263

Cafe-Au-Lait Spots

SPRED1, GNAS

C0235752

Port-Wine Stain

GNAQ, RASA1

C0242788

Breast Neoplasms, Male

TOX3, AR

C0259771

Steatocystoma Multiplex

KRT17

C0263454

Chloracne

CDK6, CDKN1B, CREM, GADD45A, EGFR, FRMD3, GSTM1, GSTM3, HBA1, HBB, HBG1, ITGB2, KRT17, SERPINB9, CYCS, PTGER4, BTG2, AHNAK, ANKRD55, EPPK1, RAB11A, CD28

C0265313

Weill-Marchesani Syndrome

FBN1, ADAMTS10

C0265334

Pachyonychia Congenita

KRT16, KRT17

C0265961

Erythrokeratodermia Variabilis

GJA1

C0265965

Dyskeratosis Congenita

DKC1, PARN, GAR1, NOP10

C0265970

Porokeratosis, Disseminated Superficial Actinic

FDPS, MVD, MVK

C0265971

Acrokeratosis Verruciformis Of Hopf

ATP2A2

C0268338

Ehlers-Danlos Syndrome, Type Iv

COL3A1, COL5A1

C0271694

Familial Partial Lipodystrophy

AKT2, LMNA, PPARG, PPP1R3A, CAV1

C0282160

Aplasia Cutis Congenita

DLL4

C0343115

Skin Mastocytoma

KIT

C0406702

Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive

EDARADD

C0549567

Pigmentation Disorders

MITF, MPV17

C0677776

Hereditary Breast And Ovarian Cancer Syndrome

RAD50, MRE11A, NBN, PTEN, BARD1, RAD51, RAD51C, RAD51D, BRCA1, BRCA2, TP53

C0751202

Cystathionine Beta-Synthase Deficiency Disease

CBS

C0751422

Hereditary Autoinflammatory Diseases

TNFAIP3

C1134719

Invasive Ductal Breast Carcinoma

CLDN4, SMAD4, ATF4, SERPINB5, PTGS2, SOD2

C1136321

HIV-Associated Lipodystrophy Syndrome

LMNA

C1148551

X-Linked Dyskeratosis Congenita

DKC1

C1321489

Torre-Muir Syndrome

MSH6, MLH1, MSH2

C1458155

Mammary Neoplasms

TANK, CDH5, OCLN, ADAM10, HNRNPR, CDKN1B, TUBB3, NDRG1, GPNMB, FST, NCOA2, CENPF, CFL1, HPSE, UBE2C, DEPP, CHEK1, CLIC1, COMT, PPARGC1B, CLDN4, CPT1A, PARP1, CSF1R, CTNNB1, CYP1A1, CYP1B1, CYP2D6, CYP3A4, CYP17A1, CYP19A1, DDIT3, DHFR, NQO1, DNMT1, DNMT3B, DPYD, JAG1, E2F1, EEF1B2, EEF2, EFNA1, EGFR, AHR, ELK3, ENO1, EP300, EPHB4, EPOR, ERBB2, ERBB3, AKT1, AKT2, ESR1, ESR2, ESRRA, ETS2, EZH2, FASN, EFEMP1, RNF182, ALDOA, FGFR1, FGFR2, DKK1, FOXM1, EPB41L3, FLNA, FN1, COTL1, HEY1, FOS, CADM1, SLC39A6, PHGDH, HEYL, CLUL1, TOX3, GNAI2, GPI, GPER1, GPX1, GPX4, MRPS28, CXCL2, GSTP1, HIST1H1C, H2AFX, HADHB, NRG1, HHEX, HIF1A, HMMR, HMOX1, HNRNPL, HP, HES1, HSPA1B, BIRC5, HSP90AA1, IGBP1, IGF1, IGF1R, IGFBP5, IGFBP7, APRT, IL1B, IL6, CXCL8, AR, EIF6, JUN, AREG, KIT, KRAS, KRT8, KRT18, STMN1, LDHB, LEP, LEPR, ARHGDIA, LOXL2, LSP1, MIR132, MAL, MDM2, MDM4, MEIS1, MFGE8, MIF, MKI67, MME, MMP1, MMP2, MMP9, MMP14, ABCC1, MT3, MTHFR, MTR, NQO2, NOS3, NOTCH1, NOTCH2, NRCAM, YBX1, SLC22A18, PAEP, ITSN2, FOXP3, EVL, PDGFA, PGR, PHB, SERPINB5, PIK3CA, PLA2G4A, DLL4, MAP2K7, KLK10, EMSY, PTEN, PTGS1, PTGS2, PTHLH, ARRDC3, PTPRD, BARD1, BAX, RAD51, RAD51C, RAF1, RB1, RBM3, LGR6, BCL2, RECQL, RELA, RGS2, RPL23A, RPL31, RPS6, RPS7, RPS8, RRAD, RXRB, CCL20, CXCL12, SFRP1, SFRP5, SHMT1, SIM1, BMP2, SLC2A1, SLC2A5, BMP4, SLC5A5, BMPR2, SNAI2, SOD2, SPP1, BRCA1, BRCA2, STAT3, STAT5A, AURKA, ZEB1, NR2F1, TFRC, TGM2, THBS1, C1QBP, TLE3, TNF, TOP2A, TP53, TYMS, UMPS, VDR, VEGFB, VEGFC, VIM, WHSC1, WT1, DAP3, FTO, TFPI2, CUL5, SLC2A10, NCOA3, NRIP1, HIST1H2BC, CASP8, BCAR3, RAD54L, RSPO3, HIST1H2BK, CAV1, STC2, NCOA1, TNFSF10, SYNJ2, ACVR1, PRC1, CLDN1, EXO1, REPS2, MTDH, THEMIS2, ADAMTS1, APOBEC3B, NCOR1, CD74, STARD8, MRPL19, RB1CC1, ZEB2, ZC3H11A, MED12

C1527336

Sjogren'S Syndrome

IRAK1BP1, FCGR2A, GTF2I, IL12A, ITSN2, PHIP, TNFAIP3, PTTG1

C1567743

Alport Syndrome, Autosomal Dominant

COL4A3

C1567744

Alport Syndrome, Autosomal Recessive

COL4A3

C1619692

Nephrogenic Fibrosing Dermopathy

COL1A1, ACTA2, CCL8

C1706595

Pachyonychia Congenita, Jadassohn Lewandowsky Type

KRT16

C1720859

Familial Partial Lipodystrophy, Type 1

LMNA

C1720860

Familial Partial Lipodystrophy, Type 2

LMNA

C1720861

Familial Partial Lipodystrophy, Type 3

PPARG

C1720965

Ectodermal Dysplasia 3, Anhidrotic

EDARADD

C1721005

Leukokeratosis, Hereditary Mucosal

KRT13

C1721006

Keratoderma, Palmoplantar, Epidermolytic

KRT1, KRT9, KRT16

C1721007

Pachyonychia Congenita, Type 2 (Disorder)

KRT17

C1862892

Hereditary Angioedema Type Ii

SERPING1

C1866504

Photosensitive Trichothiodystrophy

MPLKIP, ERCC2

C1869114

Weill-Marchesani Syndrome, Autosomal Recessive

ADAMTS10

C1869115

Weill-Marchesani Syndrome, Autosomal Dominant

FBN1

C1955934

Trichothiodystrophy Syndromes

MPLKIP, ERCC2

C1956391

Temporal Arteritis

PTPN22

C2316212

Cryopyrin-Associated Periodic Syndromes

MME

C2717836

Steroid Sulfatase Deficiency Disease

STS

C2717905

Hereditary Angioedema Types I And Ii

SERPING1, C1S

C2717906

Hereditary Angioedema Type I

SERPING1

C2745948

Hyalinosis, Systemic

ANTXR2

C2931735

Epidermolytic Palmoplantar Keratoderma Vorner Type

KRT1, KRT9, KRT16

C3495483

Amish Brittle Hair Brain Syndrome

MPLKIP

C3495559

Juvenile Arthritis

PLK2, ADCY7, CLU, CREM, SIK1, CAMSAP1, DAPK1, GADD45A, DDIT3, HBEGF, DUSP1, DUSP2, EGR1, ZFC3H1, CTTN, C9orf72, FCGR1A, JMJD1C, R3HDM2, TNIK, STAB1, FOS, FOSB, FOSL2, MAFF, FOXP1, GMPR, GNG11, GP1BB, NEAT1, CXCL1, NRG1, HSPA6, IGF1R, IL1RN, AQP9, ITGB5, JUN, AREG, KRAS, LPP, SMAD3, MAP2, RERE, NR4A2, OLR1, MEX3C, MS4A4A, PER1, PLAUR, PLOD2, RBM47, ACPP, ETNK1, MAPK1, ZFAND3, HERPUD2, SLC2A3, SLC11A1, STAT3, TCF7L2, BTG1, TFDP1, TFPI, THBS1, TNFAIP6, TUBB2A, UBE2E1, RNF103, CXCR4, CALD1, NR4A3, NDEL1, MAD1L1, MAML2, AOPEP, MIR22HG, TNFRSF10C, CD14, CD83, KLF4, B4GALT5, PCYT1B, UBE3C, MTSS1, FCHSD2

C3665358

Galactorrhea

PRL

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