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Entry Name Description Category Pathway Gene
H00012 Polycythemia vera ... hematological diseases that share clinical and biological similarities, such as a hematopoietic stem cell origin: PV, essential thrombocythemia (ET), primary myelofibrosis (PMF), chronic myeloid leukemia (CML) ... Cancer (PV) JAK2 [HSA:3717] [KO:K04447]
H00016 Oral cancer ... of Diseases. Nevertheless, the term is synonymous to squamous cell carcinoma (SCC) of oral mucosal origin that accounts for more than 90% of all malignant presentations at the aforementioned anatomical ... Cancer p53 (mutation, deletion) [HSA:7157] [KO:K04451]
p16/INK4A (mutation, loss of expression) [HSA:1029] [KO:K06621]
EGFR (overexpression) [HSA:1956] [KO:K04361]
c-myc/N-myc (amplification, overexpression) [HSA:4609] [KO:K04377]
N-ras (amplification) [HSA:4893] [KO:K07828]
K-ras (amplification) [HSA:3845] [KO:K07827]
Cyclin D1 (amplification) [HSA:595] [KO:K04503]
STAT-3 (expression) [HSA:6774] [KO:K04692]
H00027 Ovarian cancer ... Approximately 90% of human ovarian cancer arises within the ovarian surface epithelium (OSE), with the rest originating from granulosa cells or, rarely, stroma or germ cells. Ovarian epithelial tumors are divided ... Cancer BRCA1 (germline mutation / deletion) [HSA:672] [KO:K10605]
BRCA2 (germline mutation / deletion) [HSA:675] [KO:K08775]
MSH2 (germline mutation) [HSA:4436] [KO:K08735]
MLH1 (germline mutation) [HSA:4292] [KO:K08734]
ERBB2 (amplification / overexpression) [HSA:2064] [KO:K05083]
K-ras (mutation) [HSA:3845] [KO:K07827]
AKT2 (amplification) [HSA:208] [KO:K04456]
PIK3CA (amplification) [HSA:5290] [KO:K00922]
c-MYC (overexpression) [HSA:4609] [KO:K04377]
p53 (mutation / deletion, overexpression) [HSA:7157] [KO:K04451]
CTNNB1 [HSA:1499] [KO:K02105]
PRKN [HSA:5071] [KO:K04556]
OPCML [HSA:4978] [KO:K06773]
AKT1 [HSA:207] [KO:K04456]
CDH1 [HSA:999] [KO:K05689]
H00031 Breast cancer ... cause of cancer death among women worldwide. The vast majority of breast cancers are carcinomas that originate from cells lining the milk-forming ducts of the mammary gland. The molecular subtypes of breast ... Cancer hsa05224 Breast cancer BRCA1 (germline mutation, hypermethylation) [HSA:672] [KO:K10605]
BRCA2 [HSA:675] [KO:K08775]
BARD1 [HSA:580] [KO:K10683]
BRIP1 [HSA:83990] [KO:K15362]
PALB2 [HSA:79728] [KO:K10897]
RAD51 [HSA:5888] [KO:K04482]
RAD54L [HSA:8438] [KO:K10875]
XRCC3 [HSA:7517] [KO:K10880]
ERBB2/HER2 (overexpression) [HSA:2064] [KO:K05083]
ESR1/ER1 [HSA:2099] [KO:K08550]
PGR [HSA:5241] [KO:K08556]
GATA3 [HSA:2625] [KO:K17895]
PIK3CA [HSA:5290] [KO:K00922]
TP53 [HSA:7157] [KO:K04451]
PPM1D [HSA:8493] [KO:K10147]
RB1CC1 [HSA:9821] [KO:K17589]
HMMR [HSA:3161] [KO:K06267]
NQO2 [HSA:4835] [KO:K08071]
SLC22A18 [HSA:5002] [KO:K08214]
PTEN [HSA:5728] [KO:K01110]
EGFR (overexpression) [HSA:1956] [KO:K04361]
KIT (overexpression) [HSA:3815] [KO:K05091]
NOTCH1 (overexpression) [HSA:4851] [KO:K02599]
NOTCH4 (overexpression) [HSA:4855] [KO:K20996]
FZD7 (overexpression) [HSA:8324] [KO:K02432]
LRP6 (overexpression) [HSA:4040] [KO:K03068]
FGFR1 (amplification) [HSA:2260] [KO:K04362]
CCND1 (amplification) [HSA:595] [KO:K04503]
H00052 Clear cell sarcoma of soft tissue ... t(12;22)(q13;q12). This translocation rearranges the ATF1 gene at 12q13 and the EWSR1 gene at 22q12, originating an EWSR1/ATF1 fusion gene. Given its specificity, this genetic aberration is considered pathognomonic ... Cancer EWSR1-ATF1 (translocation) [HSA:466] [KO:K09053]
H00077 Progressive supranuclear palsy
Steele-Richardson-Olszewski syndrome 		... microtubule-associated protein, tau. PSP presents with an atypical parkinsonism characterized by progressive axial rigidity, vertical gaze palsy, dysarthria and dysphagia. Although the majority of cases of progressive ... Neurodegenerative disease (PSNP1) MAPT [HSA:4137] [KO:K04380]
H00110 Cholera ... but also to the O139 serogroup. Seven cholera pandemics have occurred since 1817, with six pandemics originating in India and the seventh pandemic originating in Indonesia in 1961. The last outbreak is dominated ... Bacterial infectious disease hsa05110 Vibrio cholerae infection
H00150 Danon disease
X-linked vacuolar cardiomyopathy and myopathy 		... lysosomal-associated membrane protein Lamp2 and resulting in cardiomyopathy, myopathy, and mental retardation. Originally Danon disease was classificatied as a variant of glycogen storage disease II (Pompe disease) ... Inherited metabolic disorder, Lysosomal disease LAMP2 [HSA:3920] [KO:K06528]
H00330 Methicillin-resistant Staphylococcal aureus (MRSA) infection ... which have become endemic in the hospital environment, particularly in intensive care units (ICUs). Originally limited to the hospital setting, MRSA is a growing cause of infections in the community. Community-associated ... Bacterial infectious disease hsa05150 Staphylococcus aureus infection
H00583 Opitz-GBBB syndrome ... disorder characterized by hypertelorism, hypospadias, and additional midline defects. This syndrome was originally described as two distinct entities, the BBB syndrome with cleft lip, palate and mental retardation ... Congenital malformation (GBBB1) MID1 [HSA:4281] [KO:K08285]
(GBBB2) SPECC1L [HSA:23384] [KO:K23028]
H00622 Hypoparathyroidism-retardation-dysmorphism syndrome
Sanjad-Sakati syndrome 		... (HRD) syndrome is an autosomal recessively inherited condition reported in patients of Middle Eastern origin. It is characterized by permanent congenital hypocalcemia associated with hypoparathyroidism, prenatal ... Congenital malformation TBCE [HSA:6905] [KO:K21768]
H00645 Incontinentia pigmenti ... subdivided into four stages: vesicular, verrucous, hyperpigmented, and atrophic. Other tissues of ectodermal origin are also affected, showing hair abnormalities, dental anomalies, and ophthalmologic and neurologic ... Congenital malformation IKBKG [HSA:8517] [KO:K07210]
H00649 Ectodermal dysplasia, hair-nail type Ectodermal dysplasia (ECTD), hair-nail type is a rare condition involving only tissues of ectodermal origin. Patients show complete alopecia and primitive nails. Autosomal recessive type has previously been ... Congenital malformation (ECTD4) KRT85 [HSA:3891] [KO:K07605]
(ECTD7) KRT74 [HSA:121391] [KO:K07605]
(ECTD9) HOXC13 [HSA:3229] [KO:K09298]
(ECTD10A/10B) EDAR [HSA:10913] [KO:K05162]
(ECTD13) KREMEN1 [HSA:83999] [KO:K23091]
H00672 Pseudofolliculitis barbae Pseudofolliculitis barbae is a common skin disorder occurring predominantly in males of African origin, characterized by acneiform papules and pustules that result in keloidal scarring localized to the ... Skin disease KRT75 [HSA:9119] [KO:K07605]
H00807 Nocturnal frontal lobe epilepsy ... stereotypic seizures. Ictal video electroencephalographic (EEG) studies have revealed partial seizures originating from the frontal lobe but also in parts of the insula, suggesting a defect of a broader network ... Nervous system disease (ENFL1) CHRNA4 [HSA:1137] [KO:K04806]
(ENFL3) CHRNB2 [HSA:1141] [KO:K04813]
(ENFL4) CHRNA2 [HSA:1135] [KO:K04804]
(ENFL5) KCNT1 [HSA:57582] [KO:K04946]
H00809 Familial epilepsy temporal lobe (ETL) ... onset in adolescence or early adulthood of lateral temporal seizures with predominant auditory symptoms originating from the lateral temporal lobe cortex. Mutations in the leucine-rich glioma-inactivated 1 ... Nervous system disease (ETL1) LGI1 [HSA:9211] [KO:K25428]
(ETL5) CPA6 [HSA:57094] [KO:K08782]
(ETL7) RELN [HSA:5649] [KO:K06249]
(ETL8) GAL [HSA:51083] [KO:K05244]
H00825 Familial flecked retina syndrome ... yellowish white fundus lesions of variable size and shape in eyes without vascular or optic nerve disease. Originally this group consisted of four diseases: fundus albipunctatus, fundus flavimaculatus, familial ... Nervous system disease (DHRD) EFEMP1 [HSA:2202] [KO:K18262]
(BLD) CFH [HSA:3075] [KO:K04004]
(FA) RDH5 [HSA:5959] [KO:K00061]
(RPA) RLBP1 [HSA:6017] [KO:K19625]
(RPA) RHO [HSA:6010] [KO:K04250]
(BCD) CYP4V2 [HSA:285440] [KO:K07427]
H00828 Familial cylindromatosis ... (FC) is a rare, autosomal dominant disorder characterized by the development of multiple benign tumors originating from the skin appendages. It is linked to CYLD gene, whose loss of function impairs epidermal ... Neoplasm CYLD [HSA:1540] [KO:K08601]
H00896 Lymphangioleiomyomatosis ... tuberous sclerosis complex, a dominant autosomal neurocutaneous syndrome. Both disorders have their origin in mutations of the tuberous sclerosis genes TSC1 and TSC2, which are involved in the regulation ... Respiratory system disease TSC1 [HSA:7248] [KO:K07206]
TSC2 [HSA:7249] [KO:K07207]
H00929 Congenital vertical talus ... dislocation of the talonavicular joint of autosomal dominant mode of inheritance. It is associated with rigid dorsal dislocation of the navicular over the neck of the talus, causing a flatfoot deformity known ... Congenital malformation HOXD10 [HSA:3236] [KO:K09295]
H01007 Choroid plexus papilloma Choroid plexus tumors (CPTs) are rare intraventricular papillary neoplasms of neuroectodermal origin, accounting for less than 1% of all intracranial tumors and 2-4% of pediatric brain tumors. CPTs are ... Nervous system disease p53 [HSA:7157] [KO:K04451]
H01134 Rhabdoid predisposition syndrome ... highly malignant, aggressive, embryonal neoplasms manifested in early infancy and childhood that may originate from virtually any tissue, generally resulting in atypical teratoid rhabdoid tumors (AT/RTs) ... Cancer (RTPS1) SMARCB1 [HSA:6598] [KO:K11648]
(RTPS2) SMARCA4 [HSA:6597] [KO:K11647]
H01155 Roussy-Levy syndrome ... associated with duplications of the PMP22 gene. A mutations in the MPZ gene has been revealed indicating that the original RLS may fall under the CMT-1B subgroup of hereditary demyelinating neuropathies. Nervous system disease MPZ [HSA:4359] [KO:K06770]
PMP22 [HSA:5376] [KO:K19289]
H01166 Sphingomonas paucimobilis infection ... non-fermentative, gram-negative bacillus found in water. This bacterium has been reported to cause nosocomial infections and is considered to originate from contaminated hospital environment and equipment. Bacterial infectious disease
H01221 Epithelial basement membrane corneal dystrophy
Cogan microcystic epithelial dystrophy
Map-dot-fingerprint dystrophy 		... cause various forms of corneal dystrophies, have been identified. Sheet-like areas of basement membrane originating from the basal epithelial cells of the corneal epithelium and extending superficially into ... Nervous system disease TGFBI [HSA:7045] [KO:K19519]
H01224 Ketosis-prone diabetes mellitus ... (KPD) is a widespread, emerging, heterogeneous syndrome, mostly observed in subjects of west African origin (west Africans and African-Americans), characterized by patients who present with diabetic ketoacidosis ... Endocrine and metabolic disease PAX4 [HSA:5078] [KO:K08032]
H01245 Immunodeficiency without anhidrotic ectodermal dysplasia ... identified. The mutation, which altered the exon 9 splice site, was present in cells of ectodermal and hematopoietic origin and resulted in a heterogeneous mixture of mutant and wild-type cDNA species. Primary immunodeficiency IKBKG [HSA:8517] [KO:K07210]
H01310 Multi-minicore disease
Multicore myopathy with external ophthalmoplegia
Rigid spine syndrome (RSS) 		... SEPN1 gene have been identified in patients with the classic axial phenotype characterized by spinal rigidity, early scoliosis, and respiratory impairment, whereas mutations in the RYR1 gene have been associated ... Nervous system disease; Musculoskeletal disease SEPN1 [HSA:57190] [KO:K19874]
RYR1 [HSA:6261] [KO:K04961]
H01407 Capnocytophaga ochracea infection Capnocytophaga ochracea is a Gram-negative bacterium, capnophilic (CO2-requiring) organism, originally isolated from a human oral cavity. C. ochracea is a normal inhabitant of the human mouth and other ... Bacterial infectious disease
H01482 Infantile hemangioma ... of IH is still shrouded in mystery even though various theories have been postulated to explain its origin. Recent studies provide strong evidence for the conclusion that the VEGF receptor 2 (VEGFR2) and ... Neoplasm TEM8 [HSA:84168] [KO:K20909]
VEGFR2 [HSA:3791] [KO:K05098]
H01512 Langerhans cell histiocytosis ... to a life-threatening multisystem condition. Historically, it has been hypothesized that the disease originated from epidermal Langerhans cells. However, new evidence supports a model in which LCH occurs ... Cancer BRAF (mutation) [HSA:673] [KO:K04365]
MAP2K1 (mutation) [HSA:5604] [KO:K04368]
H01525 22q11.2 deletion syndrome
CATCH22 		... of cases. Other defects including tetralogy of Fallot [DS:H00549], double outflow right ventricle, ventricular septal defect and an aberrant origin of the right subclavian artery are frequently found. Chromosomal abnormality TBX1 [HSA:6899] [KO:K10175]
H01527 Chronic inflammatory demyelinating polyradiculoneuropathy ... polyradiculoneuropathy causing weakness of proximal and distal muscles. The etiology is suspected to be of autoimmune origin, and the diagnosis is typically based on clinical history, neurologic examination, electrophysiologic ... Immune system disease; Nervous system disease
H01528 Neuroleptic malignant syndrome ... life-threatening side effect to antipsychotic drugs characterized by fever, altered mental status, muscle rigidity, and autonomic dysfunction. NMS is classically associated with the use of high-potency antipsychotics ... Nervous system disease
H01557 Hepatic angiosarcoma Angiosarcoma represents 1 to 2% of soft tissue tumors. It originates from endothelial cells of small blood vessels and may affect a variety of organs, including the retroperitoneum, skeletal muscle, subcutis ... Cancer TP53 (mutation) [HSA:7157] [KO:K04451]
KRAS-2 (mutation) [HSA:3845] [KO:K07827]
H01559 Oropharyngeal cancer ... of the tongue. The vast majority of these tumors (>95%) includes squamous cell carcinomas of mucosal origin. Oropharyngeal squamous cell carcinomas (OPSCCs) are traditionally categorized as head and neck ... Cancer TP53 (mutation) [HSA:7157] [KO:K04451]
EGFR (amplification, overexpression) [HSA:1956] [KO:K04361]
H01571 Singleton-Merten syndrome Singleton-Merten syndrome (SMS) is a rare autosomal-dominant multisystem disorder characterized by early and extreme aortic and valvular calcification, dental anomalies (early-onset periodontitis and root ... Congenital malformation (SGMRT1) IFIH1 [HSA:64135] [KO:K12647]
(SGMRT2) RIGI [HSA:23586] [KO:K12646]
H01579 Congenital symmetric circumferential skin creases
Kunze-Riehm syndrome
Michelin tire baby syndrome 		... genital anomalies. It has been reported that mutations in either MAPRE2 or TUBB underlie the genetic origin of this syndrome. MAPRE2 encodes a member of the microtubule end-binding family of proteins that ... Congenital malformation (CSCSC1) TUBB [HSA:203068] [KO:K07375]
(CSCSC2) MAPRE2 [HSA:10982] [KO:K10436]
H01587 Disseminated intravascular coagulation ... intravascular activation of coagulation with loss of localisation arising from different causes. It can originate from and cause damage to the microvasculature, which if sufficiently severe, can produce organ ... Hematologic disease
H01592 Medullary thyroid cancer Medullary thyroid carcinoma (MTC) is a malignant tumor originating from thyroid parafollicular C cells and accounts for only <5% of thyroid cancers, but it causes a disproportionate number of thyroid cancer ... Cancer RET [HSA:5979] [KO:K05126]
HRAS [HSA:3265] [KO:K02833]
KRAS [HSA:3845] [KO:K07827]
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