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Entry Name Description Category Pathway Gene
H00038 Melanoma Melanoma is a form of skin cancer that has a poor prognosis and which is on the rise in Western populations. Melanoma arises from the malignant transformation of pigment-producing cells, melanocytes. The ... Cancer hsa05218 Melanoma (CMM2) CDKN2A [HSA:1029] [KO:K06621]
(CMM3) CDK4 [HSA:1019] [KO:K02089]
(CMM5) MC1R [HSA:4157] [KO:K04199]
(CMM6) XRCC3 [HSA:7517] [KO:K10880]
(CMM8) MITF (amplification) [HSA:4286] [KO:K09455]
(CMM9) TERT [HSA:7015] [KO:K11126]
(CMM10) POT1 [HSA:25913] [KO:K11109]
BRAF [HSA:673] [KO:K04365]
STK11 [HSA:6794] [KO:K07298]
NRAS [HSA:4893] [KO:K07828]
PTEN [HSA:5728] [KO:K01110]
TP53 [HSA:7157] [KO:K04451]
H00039 Basal cell carcinoma Cancer of the skin is the most common cancer in Caucasians and basal cell carcinomas (BCC) account for 90% of all skin cancers. The vast majority of BCC cases are sporadic, though there is a rare familial ... Cancer hsa05217 Basal cell carcinoma (BCC1) SMO [HSA:6608] [KO:K06226]
(BCC1) PTCH1 [HSA:5727] [KO:K06225]
(BCC1) PTCH2 [HSA:8643] [KO:K11101]
(BCC1) RASA1 [HSA:5921] [KO:K04352]
(BCC7) TP53 [HSA:7157] [KO:K04451]
H00040 Squamous cell carcinoma Non-melanoma skin cancer, i.e. basal cell carcinoma (BCC) and squamous cell carcinoma (SCC) are the most frequent tumors and their number is still increasing world- wide. Approximately 200000 cases of ... Cancer p53 (mutation) [HSA:7157] [KO:K04451]
p16/INK4A (mutation) [HSA:1029] [KO:K06621]
H-ras (mutation) [HSA:3265] [KO:K02833]
K-ras (mutation) [HSA:3845] [KO:K07827]
H00077 Progressive supranuclear palsy
Steele-Richardson-Olszewski syndrome 		Progressive supranuclear palsy (PSP) is a progressing degenerative disease belonging to the family of tauopathies caused by abnormalities in the microtubule-associated protein, tau. PSP presents with an ... Neurodegenerative disease (PSNP1) MAPT [HSA:4137] [KO:K04380]
H00095 Ectodermal dysplasia and immunodeficiency ... is characterized by absence, abnormality, or deficient function of ectodermal derivatives, including skin, teeth, hair, eccrine glands, or nails. In the hypohidrotic/ anhidrotic form of ED (HED/EDA) the ... Immune system disease (EDAID1) IKBKG [HSA:8517] [KO:K07210]
(EDAID2) NFKBIA [HSA:4792] [KO:K04734]
H00101 Other phagocyte defects Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder characterized by partial skin and ocular albinism, increased susceptibility to infections, and progressive neuropathy. Clinical reports ... Primary immunodeficiency
H00168 Oculocutaneous albinism Oculocutaneous albinism (OCA) is a genetically heterogeneous congenital disorder of melanin biosynthesis characterized by decreased or absent pigmentation in the hair, skin, and eyes. Inherited metabolic disorder (OCA1) TYR [HSA:7299] [KO:K00505]
(OCA2) OCA2 [HSA:4948] [KO:K24200]
(OCA2) MC1R [HSA:4157] [KO:K04199]
(OCA3) TYRP1 [HSA:7306] [KO:K00506]
(OCA4) SLC45A2 [HSA:51151] [KO:K15378]
(OCA6) SLC24A5 [HSA:283652] [KO:K13753]
(OCA7) LRMDA [HSA:83938] [KO:K24399]
(OCA8) DCT [HSA:1638] [KO:K01827]
H00170 Piebaldism ... mutations of kit proto-oncogene implicated in the differentiation and migration of melanoblasts. The disease is characterized by the congenital absence of melanocytes in affected areas of the skin and hair. Inherited metabolic disorder (PBT) KIT [HSA:3815] [KO:K05091]
H00265 Hereditary sensory and autonomic neuropathy ... affecting peripheral sensory and autonomic neurons. Hallmark features are progressive sensory loss, chronic skin ulcers, and other skin abnormalities. Autonomic features vary between different subgroups. Nervous system disease (HSAN1/HSN1A) SPTLC1 [HSA:10558] [KO:K00654]
(HSAN1C) SPTLC2 [HSA:9517] [KO:K00654]
(HSAN2A) WNK1 [HSA:65125] [KO:K08867]
(HSAN2B) FAM134B [HSA:54463] [KO:K23880]
(HSAN2C) KIF1A [HSA:547] [KO:K10392]
(HSAN2D) SCN9A [HSA:6335] [KO:K04841]
(HSAN3) IKBKAP [HSA:8518] [KO:K11373]
(HSAN4) NTRK1 [HSA:4914] [KO:K03176]
(HSAN5) NGFB [HSA:4803] [KO:K02582]
(HSAN6) DST [HSA:667] [KO:K10382]
(HSAN7) SCN11A [HSA:11280] [KO:K04843]
(HSAN8) PRDM12 [HSA:59335] [KO:K24255]
(HSAN9) TECPR2 [HSA:9895] [KO:K23881]
(HSN1D) ATL1 [HSA:51062] [KO:K17339]
(HSN1E) DNMT1 [HSA:1786] [KO:K00558]
(HSN1F) ATL3 [HSA:25923] [KO:K17339]
H00285 Blau syndrome ... dominantly-inherited disease which is presented with triad of juvenile-onset granulomatous arthritis, uveitis, and skin rashes. Inflammation of the eyes, camptodactyly and lymphaedenopathy are additional features of ... Immune system disease NOD2 [HSA:64127] [KO:K10165]
H00288 Familial Mediterranean fever
Familial hereditary periodic fever syndromes 		... recurrent inflammatory fevers with sterile peritonitis, pleuritis, arthritis, myalgia and erysipelas-like skin lesions. Renal amyloidosis is the most severe complication, leads to renal failure. These symptoms ... Immune system disease MEFV [HSA:4210] [KO:K12803]
H00290 Aicardi-Goutieres syndrome ... progressive neurological dysfunction resulting in a failure of development of expected physical and social skills. AGS presents in infancy and is lethal in ~40% of cases. It can be caused by mutations in the ... Immune system disease (AGS1) TREX1 [HSA:11277] [KO:K10790]
(AGS2) RNASEH2B [HSA:79621] [KO:K10744]
(AGS3) RNASEH2C [HSA:84153] [KO:K10745]
(AGS4) RNASEH2A [HSA:10535] [KO:K10743]
(AGS5) SAMHD1 [HSA:25939] [KO:K22544]
(AGS6) ADAR [HSA:103] [KO:K12968]
(AGS7) IFIH1 [HSA:64135] [KO:K12647]
(AGS8) LSM11 [HSA:134353] [KO:K25592]
(AGS9) RNU7-1 [HSA:100147744]
H00291 Familial chilblain lupus (FCL)
Chilblain lupus erythematosus (CHLE) 		Familial chilblain lupus (FCL) is a rare, inherited form of cutaneous lupus with prominent skin manifestations in acral parts of the body. Two families with autosomal dominant-inherited chilblain lupus ... Immune system disease (CHBL1) TREX1 [HSA:11277] [KO:K10790]
(CHBL2) SAMHD1 [HSA:25939] [KO:K22544]
H00296 Defects in RecQ helicases ... characterized by the premature development of features that resemble aging. RTS is characterized by skin and skeletal abnormalities, signs of premature aging, and cancer predisposition, especially to osteosarcomas ... Congenital malformation BLM [HSA:641] [KO:K10901]
WRN [HSA:7486] [KO:K10900]
RECQL4 [HSA:9401] [KO:K10730]
H00328 Anthrax ... [DS:H01399]. Human infections can occur from infected animals or animal products through three main routes: skin (cutaneous), lung (inhalation) and mouth (gastrointestinal). The disease is rare, but the potential ... Bacterial infectious disease
H00330 Methicillin-resistant Staphylococcal aureus (MRSA) infection ... (HA-MRSA) is usually associated with pneumonia, urinary tract, blood stream, and surgical wound infections. In contrast, CA-MRSA strains are overwhelmingly associated with skin and soft tissue infections. Bacterial infectious disease hsa05150 Staphylococcus aureus infection
H00344 Leprosy
Hansen disease 		... Mycobacterium leprae (M. leprae) and the more recently discovered Mycobacterium lepromatosis (M. lepromatosis). It primarily affects peripheral nerves, skin and mucosa particularly the upper respiratory tract. Bacterial infectious disease (LPRS3) TLR2 [HSA:7097] [KO:K10159]
(LPRS4) LTA [HSA:4049] [KO:K05468]
(LPRS5) TLR1 [HSA:7096] [KO:K05398]
H00345 Nocardiosis ... disease is the most common clinical presentation especially in immunocompromised patients. Nocardiosis also occurs in disseminated form, affecting lungs, central nervous system, skin, and the soft tissues. Bacterial infectious disease
H00353 Lyme borreliosis
Lyme disease 		... the tick-borne spirochetes Borrelia. Localized infection is typically manifested by erythema migrans skin lesions. A broad variety of peripheral nerve disorders (Lyme neuroborreliosis) can occur as well ... Bacterial infectious disease
H00354 Syphilis ... caused by the spirochete Treponema pallidum subsp. pallidum. It is characterized by genital ulceration, skin rash, and development of serious systemic disease. Syphilis may also alter the course of HIV disease ... Bacterial infectious disease
H00355 Leptospirosis
Weil disease 		... urine into the environment, and then usually gain entry to the host via mucosal surfaces or damaged skin. Clinical symptoms range from a self-resolving acute febrile illness to severe, sometimes fatal ... Bacterial infectious disease
H00365 Herpes simplex virus infection
HSV infection 		... ganglia (DRG) for the entire life of the host. HSV infects the human host via mucosal surfaces or damaged skin, and most primary infections are asymptomatic. HSV-1 is mainly associated with orofacial lesions ... Viral infectious disease hsa05168 Herpes simplex virus 1 infection
H00372 Smallpox
Variola 		Smallpox is a contagious disease caused by the variola virus, one of the Orthopoxviruses that causes skin eruption and marked toxemia. The disease was officially declared eradicated in 1979 following intensive ... Viral infectious disease
H00374 Viral wart ... papillomaviruses (HPVs) are small DNA viruses of the papovavirus family that can be associated with various skin warts including common warts, plantar warts, plane warts, condyloma acuminatum, Bowenoid papulosis ... Viral infectious disease
H00403 Disorders of nucleotide excision repair ... which is characterized by photosensitivity and mild freckling but without neurological abnormalities or skin tumors. TTD is a premature aging syndrome, with the hallmark feature of brittle hair and nails, ... Congenital malformation (XPA) XPA [HSA:7507] [KO:K10847]
(XPB/CS, TTD) ERCC3 [HSA:2071] [KO:K10843]
(XPC) XPC [HSA:7508] [KO:K10838]
(XPD, TTD) ERCC2 [HSA:2068] [KO:K10844]
(XPE) DDB2 [HSA:1643] [KO:K10140]
(XPE-2) DDB1 [HSA:1642] [KO:K10610]
(XPF/CS) ERCC4 [HSA:2072] [KO:K10848]
(XPG/CS, COFS3) ERCC5 [HSA:2073] [KO:K10846]
(XPV) POLH [HSA:5429] [KO:K03509]
(CSA) ERCC8 [HSA:1161] [KO:K10570]
(CSB, DSC, UVS, COFS1) ERCC6 [HSA:2074] [KO:K10841]
(TTD) GTF2H5 [HSA:404672] [KO:K10845]
(COFS4) ERCC1 [HSA:2067] [KO:K10849]
H00441 Progressive osseous heteroplasia ... disorder where heterozygous inactivating mutations in the GNAS gene have been identified. Patients with POH characteristically develop extensive bone formation within the superficial dermal layer of the skin. Musculoskeletal disease GNAS [HSA:2778] [KO:K04632]
H00531 Venous malformations ... occur in the head and neck region. Birthmarks in cutaneomucosal venous malformation appear mainly on skin and mucosa, whereas plaques in glomuvenous malformation are located on the extremities, usually ... Congenital malformation (sporadic, cutaneomucosal) TIE2 [HSA:7010] [KO:K05121]
(glomuvenous) GLMN [HSA:11146] [KO:K23345]
H00557 Cutis laxa ... disorders with variable organ involvement. The most obvious symptom of cutis laxa is loose and sagging skin due to reduced elastic fibers in the dermis. The phenotype of autosomal recessive cutis laxa II ... Congenital malformation (ADCL1) ELN [HSA:2006] [KO:K14211]
(ADCL2/ARCL1A) FBLN5 [HSA:10516] [KO:K17340]
(ADCL3/ARCL3A) ALDH18A1 [HSA:5832] [KO:K12657]
(ARCL1B) EFEMP2 [HSA:30008] [KO:K19866]
(ARCL1C) LTBP4 [HSA:8425] [KO:K08023]
(ARCL1D) EFEMP1 [HSA:2202] [KO:K18262]
(ARCL2A/WSS) ATP6V0A2 [HSA:23545] [KO:K02154]
(ARCL2B/ARCL3B) PYCR1 [HSA:5831] [KO:K00286]
(ARCL2C) ATP6V1E1 [HSA:529] [KO:K02150]
(ARCL2D) ATP6V1A [HSA:523] [KO:K02145]
(ARCL2E) LTBP1 [HSA:4052] [KO:K19559]
H00558 Geroderma osteodysplasticum Geroderma osteodysplasticum is a rare autosomal recessive disorder characterized by wrinkled skin and severe osteopenia with spontaneous fractures and the lack of large open fontanels. Mutations have been ... Congenital malformation SCYL1BP1 [HSA:92344] [KO:K19748]
PYCR1 [HSA:5831] [KO:K00286]
H00560 Pseudoxanthoma elasticum ... disorder characterized by aberrant mineralization of elastic fibers in connective tissue affecting the skin, eyes and the arterial blood vessels. The mutated gene is identified as ABCC6, an ATP-binding cassette ... Congenital malformation (PXE) ABCC6 [HSA:368] [KO:K05669]
(PXE) XYLT1 [HSA:64131] [KO:K00771]
(PXE) XYLT2 [HSA:64132] [KO:K00771]
(PXE-like) GGCX [HSA:2677] [KO:K10106]
H00564 Primary ciliary dyskinesia Primary ciliary dyskinesia (PCD) is an autosomal recessive disorder with recurrent oto-sinopulmonary infections, bronchiectasis, and infertility owing to impaired motile ciliary function. Alterations in ... Respiratory system disease (CILD1) DNAI1 [HSA:27019] [KO:K10409]
(CILD2) DNAAF3 [HSA:352909] [KO:K19752]
(CILD3) DNAH5 [HSA:1767] [KO:K10408]
(CILD5) HYDIN [HSA:54768] [KO:K17570]
(CILD6) NME8 [HSA:51314] [KO:K19868]
(CILD7) DNAH11 [HSA:8701] [KO:K10408]
(CILD9) DNAI2 [HSA:64446] [KO:K11143]
(CILD10) DNAAF2 [HSA:55172] [KO:K19751]
(CILD11) RSPH4A [HSA:345895] [KO:K19756]
(CILD12) RSPH9 [HSA:221421] [KO:K19757]
(CILD13) DNAAF1 [HSA:123872] [KO:K19750]
(CILD14) CCDC39 [HSA:339829] [KO:K23729]
(CILD15) CCDC40 [HSA:55036] [KO:K23730]
(CILD16) DNAL1 [HSA:83544] [KO:K10411]
(CILD17) CCDC103 [HSA:388389] [KO:K23731]
(CILD18) DNAAF5 [HSA:54919] [KO:K19759]
(CILD19) DNAAF11 [HSA:23639] [KO:K19753]
(CILD20) ODAD1 [HSA:93233] [KO:K23732]
(CILD21) DRC1 [HSA:92749] [KO:K19754]
(CILD22) ZMYND10 [HSA:51364] [KO:K24030]
(CILD23) ODAD2 [HSA:55130] [KO:K24125]
(CILD24) RSPH1 [HSA:89765] [KO:K19755]
(CILD25) DNAAF4 [HSA:161582] [KO:K19758]
(CILD26) CFAP298 [HSA:56683] [KO:K24229]
(CILD27) CCDC65 [HSA:85478] [KO:K23728]
(CILD28) SPAG1 [HSA:6674] [KO:K19870]
(CILD29) CCNO [HSA:10309] [KO:K10861]
(CILD30) ODAD3 [HSA:115948] [KO:K23733]
(CILD32) RSPH3 [HSA:83861] [KO:K23965]
(CILD33) GAS8 [HSA:2622] [KO:K19942]
(CILD34) DNAJB13 [HSA:374407] [KO:K09519]
(CILD35) ODAD4 [HSA:83538] [KO:K24254]
(CILD36) DNAAF6 [HSA:139212] [KO:K24253]
(CILD37) DNAH1 [HSA:25981] [KO:K10408]
(CILD38) CFAP300 [HSA:85016] [KO:K24230]
(CILD39) LRRC56 [HSA:115399] [KO:K25425]
(CILD40) DNAH9 [HSA:1770] [KO:K10408]
(CILD41) GAS2L2 [HSA:246176] [KO:K24627]
(CILD42) MCIDAS [HSA:345643] [KO:K26119]
(CILD43) FOXJ1 [HSA:2302] [KO:K09402]
(CILD44) NEK10 [HSA:152110] [KO:K20879]
(CILD45) TTC12 [HSA:54970] [KO:K24652]
(CILD46) STK36 [HSA:27148] [KO:K06228]
(CILD47) TP73 [HSA:7161] [KO:K10148]
(CILD48) NME5 [HSA:8382] [KO:K20790]
(CILD49) CFAP74 [HSA:85452] [KO:K25607]
(CILD50) DNAH7 [HSA:56171] [KO:K10408]
(CILD51) BRWD1 [HSA:54014] [KO:K11798]
(CILD52) DAW1 [HSA:164781] [KO:K19760]
(CILD53) CLXN [HSA:79645] [KO:K27179]
H00584 Epidermolysis bullosa simplex ... dozens of clinically and genotypically distinct diseases. It is characterized by mechanically fragile skin that readily blister. The simplex forms of epidermolysis bullosa (EBS) demonstrate blister formation ... Congenital malformation (EBS1) KRT14 [HSA:3861] [KO:K07604]
(EBS2) KRT5 [HSA:3852] [KO:K07605]
(EBS3) DST [HSA:667] [KO:K10382]
(EBS4) EXPH5 [HSA:23086] [KO:K22236]
(EBS5) PLEC1 [HSA:5339] [KO:K10388]
(EBS6) KLHL24 [HSA:54800] [KO:K10461]
(EBS7) CD151 [HSA:977] [KO:K06537]
H00585 Epidermolysis bullosa, hemidesmosomal Inherited epidermolysis bullosa is a diverse group of disorders characterized by mechanically fragile skin that readily blister. The conditions in which the blister formation occurs at the level of hemidesmosome ... Congenital malformation PLEC [HSA:5339] [KO:K10388]
H00586 Epidermolysis bullosa, junctional Inherited epidermolysis bullosa is a diverse group of disorders characterized by mechanically fragile skin that readily blister. The junctional forms of epidermolysis bullosa (JEB) are characterized by blister ... Congenital malformation (JEB1A/1B) LAMB3 [HSA:3914] [KO:K06244]
(JEB2A/2B/2C) LAMA3 [HSA:3909] [KO:K06240]
(JEB3A/3B) LAMC2 [HSA:3918] [KO:K06246]
(JEB4) COL17A1 [HSA:1308] [KO:K07603]
(JEB5A/5B) ITGB4 [HSA:3691] [KO:K06525]
(JEB6) ITGA6 [HSA:3655] [KO:K06485]
(JEB7) ITGA3 [HSA:3675] [KO:K06482]
H00587 Epidermolysis bullosa, dystrophica Inherited epidermolysis bullosa is a diverse group of disorders characterized by mechanically fragile skin that readily blister. The dystrophic forms of epidermolysis bullosa, in which tissue separation ... Congenital malformation COL7A1 [HSA:1294] [KO:K16628]
H00588 Kindler syndrome Kindler syndrome is a rare autosomal recessive disease characterized by blister, poikiloderma, skin atrophy, and photosensitivity. Skin disease KIND1 [HSA:55612] [KO:K17082]
H00601 Hutchinson-Gilford progeria syndrome ... with HGPS begin to develop micrognathia, alopecia, prominent scalp vein, and wrinkled, aged-looking skin within the first year of life. Severe premature atherosclerosis can cause the death at an average ... Inherited metabolic disorder LMNA [HSA:4000] [KO:K12641]
H00614 Hyaline fibromatosis syndrome ... disease. Abnormal accumulation of an unidentified hyaline material in body tissues can lead to joint contractures, osteopenia, thickened skin with hyperpigmentation, gingival hypertrophy, and diarrhea. Musculoskeletal disease CMG2 [HSA:118429] [KO:K20909]
H00621 Alopecia neurologic defects and endocrinopathy syndrome
ANE syndrome 		... hypogonadism, central adrenal insufficiency, short stature, microcephaly, and several other skeletal and skin abnormalities. The syndrome is caused by decreased expression of the nucleolar protein RBM28, known ... Ribosomopathy RBM28 [HSA:55131] [KO:K14573]
H00638 Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome
EEC syndrome 		... ectrodactyly, the lobster claw-like deformities of the hands and feet, ectodermal dysplasia affecting skin, hair, and nails, and cleft lip with or without cleft palate. Other symptoms include anomalies of ... Congenital malformation TP63 [HSA:8626] [KO:K10149]
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