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Entry Name Description Category Pathway Gene
H00016 Oral cancer ... cancer refers to a subgroup of head and neck malignancies that develop at the lips, tongue, salivary glands, gingiva, floor of the mouth, oropharynx, buccal surfaces and other intra-oral locations, according ... 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]
H00025 Penile cancer ... alterations in the activity and/or expression of ras and myc genes, cyclo-oxygenase-2 (COX) pathway and prostaglandin E2 synthase. These alterations have been described in both HPV-positive and -negative penile ... Cancer p16/INK4a (promoter hypermethylation) [HSA:1029] [KO:K06621]
BMI1 (overexpression) [HSA:648] [KO:K11459]
p53 (mutation) [HSA:7157] [KO:K04451]
MDM2 (overexpression) [HSA:4193] [KO:K06643]
H-ras (mutation) [HSA:3265] [KO:K02833]
c-MYC (mutation) [HSA:4609] [KO:K04377]
E-Cadherin (expression) [HSA:999] [KO:K05689]
MMP-2 (expression) [HSA:4313] [KO:K01398]
MMP-9 (expression) [HSA:4318] [KO:K01403]
COX-2 (expression) [HSA:5743] [KO:K11987]
PTGES2 (expression) [HSA:80142] [KO:K05309]
H00031 Breast cancer ... breast cancers are carcinomas that originate from cells lining the milk-forming ducts of the mammary gland. The molecular subtypes of breast cancer, which are based on the presence or absence of hormone ... 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]
H00081 Hashimoto thyroiditis ... of immunocytes that replace the parenchyma and induce thyroid enlargement, which eventually leads to gland fibrosis. Progressive thyrocyte depletion results in impaired thyroid hormone production and clinical ... Immune system disease CTLA4 [HSA:1493] [KO:K06538]
H00082 Graves disease ... of chronic autoimmune thyroid disease (AITD), and is characterized by overstimulation of the thyroid gland with agonistic anti-thyrotropin (TSH) receptor autoantibodies. This overstimulation leads to follicular ... Immune system disease
H00095 Ectodermal dysplasia and immunodeficiency ... 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 patient has no sweat glands ... Immune system disease (EDAID1) IKBKG [HSA:8517] [KO:K07210]
(EDAID2) NFKBIA [HSA:4792] [KO:K04734]
H00125 Fabry disease
Anderson-Fabry disease 		Fabry disease is an X-linked lysosomal storage disorder caused by deficient alpha-galactosidase A activity. Symptoms arise because of accumulation of glycosphingolipids -mainly globotriaosylceramide- in ... Inherited metabolic disorder, Lysosomal disease GLA [HSA:2717] [KO:K01189]
H00148 Lysosomal acid lipase deficiency ... early infancy with diarrhea, massive hepatosplenomegaly, failure to thrive, and calcification of adrenal glands. Without treatment, hepatic failure and death occur within the first year of life. In CESD, hepatomegaly ... Inherited metabolic disorder, Lysosomal disease LIPA [HSA:3988] [KO:K01052]
H00218 Cystic fibrosis Cystic fibrosis (CF) is an autosomal recessive disorder of the exocrine glands caused by mutation of CFTR gene which encodes an ABC transporter for salt homeostasis. CF is a common lethal single-gene disorder ... Respiratory system disease CFTR [HSA:1080] [KO:K05031]
TGFB1 [HSA:7040] [KO:K13375]
FCGR2A [HSA:2212] [KO:K06472]
H00226 Glanzmann thrombasthenia Glanzmann thrombasthenia (GT) is a rare autosomal recessive bleeding syndrome affecting the megakaryocyte lineage and characterized by lack of platelet aggregation. This disease is caused by mutation in ... Hematologic disease (GT1) ITGA2B [HSA:3674] [KO:K06476]
(GT2) ITGB3 [HSA:3690] [KO:K06493]
H00245 Calcium sensing receptor (CASR) related disease ... in the CASR gene which expresses in the parathyroid hormone producing chief cells of the parathyroid gland and the cells lining the kidney tubule affect calcium homeostasis. Loss-of-function mutations in ... Inherited metabolic disorder CASR [HSA:846] [KO:K04612]
H00247 Multiple endocrine neoplasia syndrome
Wermer syndrome
Sipple syndrome 		... dominant syndrome which is characterized by the occurrence of tumors involving two or more endocrine glands. Four major forms of MEN are recognized, namely MEN1, MEN2A, MEN2B and MEN4. MEN1, which is also ... Cancer (MEN1) MEN1 [HSA:4221] [KO:K14970]
(MEN2A MEN2B) RET [HSA:5979] [KO:K05126]
(MEN4) CDKN1B [HSA:1027] [KO:K06624]
H00253 Neurohypophyseal diabetes insipidus
Central diabetes insipidus 		... insipidus (NDI), also known as central diabetes insipidus, is a heterogeneous condition characterized by polyuria and polydipsia caused by defect of antidiuretic hormone secreted from the pituitary gland. Endocrine and metabolic disease AVP [HSA:551] [KO:K05242]
H00312 Tularemia ... tularensis. It occurs in North America, Europe, and Asia. The most common clinical presentation is ulceroglandular tularemia with chills, fever, head and muscle pain, and prostration. Some people may develop ... Bacterial infectious disease
H00316 Glanders Glanders is an infectious disease of equines that can be transmitted to humans. It is usually an occupational disease, affecting individuals in contact with infected animals such as veterinarians, grooms ... Bacterial infectious disease
H00343 Diphtheria ... decreased. However, diphtheria still remains endemic in several regions including Africa, India, Bangladesh, Vietnam, the tropics, and South America. Moreover, a large proportion of adults in industrialized ... Bacterial infectious disease
H00396 Mumps Mumps is an acute systemic viral infection classically manifested by inflammation of parotid glands and fever. Mortality is rare, but it is often accompanied by more serious complications such as aseptic ... Viral infectious disease
H00423 Sphingolipidosis The sphingolipidoses are a group of monogenic inherited diseases caused by defects in the system of lysosomal sphingolipid degradation, with subsequent accumulation of non-degradable storage material in ... Inherited metabolic disorder, Lysosomal disease GLA [HSA:2717] [KO:K01189]
GLB1 [HSA:2720] [KO:K12309]
GBA [HSA:2629] [KO:K01201]
ARSA [HSA:410] [KO:K01134]
GALC [HSA:2581] [KO:K01202]
SMPD1 [HSA:6609] [KO:K12350]
ASAH1 [HSA:427] [KO:K12348]
PSAP [HSA:5660] [KO:K12382]
SUMF1 [HSA:285362] [KO:K13444]
H00457 Primary hypertrophic osteoarthropathy ... clubbing, arthropathy, acro-osteolysis, periostosis, and pachydermia. Mutations in HPGD gene and SLCO2A1 gene, which encodes 15-hydroxyprostaglandin dehydrogenase and prostaglandin transporter, were reported. Musculoskeletal disease HPGD [HSA:3248] [KO:K00069]
SLCO2A1 [HSA:6578] [KO:K14345]
H00500 Keutel syndrome Keutel syndrome is a rare autosomal recessive condition characterized by diffuse cartilage calcification. Mutations in the matrix Gla protein gene (MGP) have been reported. Congenital malformation MGP [HSA:4256] [KO:K19481]
H00559 von Hippel-Lindau syndrome ... haemangioblastomas, pancreatic neuroendocrine tumors, renal cell carcinoma, phaeochromocytoma in the adrenal gland, epididymal cystadenoma, and endolymphatic sac tumors. Germline inactivation of VHL tumor suppressor ... Congenital malformation VHL [HSA:7428] [KO:K03871]
CCND1 [HSA:595] [KO:K04503]
H00602 Glucocorticoid-remediable aldosteronism (GRA)
Familial hyperaldosteronism type I 		... result, aldosterone is ectopically synthesized in the cortisol-secreting zona fasciculata of the adrenal gland under the control of adrenocorticotropin (ACTH). The high levels of mineralocorticoids activate ... Endocrine and metabolic disease CYP11B1 [HSA:1584] [KO:K00497]
CYP11B2 [HSA:1585] [KO:K07433]
H00612 Primary open angle glaucoma
Glaucoma 1 		Primary open angle glaucoma (POAG) is the most prevalent form of glaucoma, and a major cause of irreversible blindness. POAG is often accompanied by ocular hypertension and characterized by progressive ... Nervous system disease (GLC1A) MYOC [HSA:4653] [KO:K23027]
(GLC1E) OPTN [HSA:10133] [KO:K19946]
(GLC1F) ASB10 [HSA:136371] [KO:K10332]
(GLC1G) WDR36 [HSA:134430] [KO:K14554]
(GLC1O) NTF4 [HSA:4909] [KO:K12457]
H00620 Axenfeld-Rieger syndrome ... ocular features include malformations of aniridia, coloboma of the iris, and ectopic pupils. Open-angle glaucoma can lead to blindness and is the main target of treatment in RIEG. Defects in other organ systems ... Congenital malformation (RIEG1) PITX2 [HSA:5308] [KO:K04686]
(RIEG3) FOXC1 [HSA:2296] [KO:K09396]
H00627 Premature ovarian failure Premature ovarian failure (POF) is characterized by amenorrhea before the age of 40 years with elevated levels of gonadotrophin (LH and FSH) and low levels of gonadal hormones (estrogens and inhibins) ... Reproductive system disease (POF1) FMR1 [HSA:2332] [KO:K15516]
(POF2A) DIAPH2 [HSA:1730] [KO:K05741]
(POF2B) POF1B [HSA:79983] [KO:K23917]
(POF3) FOXL2 [HSA:668] [KO:K09405]
(POF4) BMP15 [HSA:9210] [KO:K05498]
(POF5) NOBOX [HSA:135935] [KO:K24199]
(POF6) FIGLA [HSA:344018] [KO:K09066]
(POF7) NR5A1 [HSA:2516] [KO:K08560]
(POF8) STAG3 [HSA:10734] [KO:K13055]
(POF9) HFM1 [HSA:164045] [KO:K15271]
(POF10) MCM8 [HSA:84515] [KO:K10737]
(POF11) ERCC6 [HSA:2074] [KO:K10841]
(POF12) SYCE1 [HSA:93426] [KO:K19534]
(POF13) MSH5 [HSA:4439] [KO:K08741]
(POF14) GDF9 [HSA:2661] [KO:K22673]
(POF15) FANCM [HSA:57697] [KO:K10896]
(POF16) BNC1 [HSA:646] [KO:K24146]
(POF17) XRCC2 [HSA:7516] [KO:K10879]
(POF18) C14orf39 [HSA:317761] [KO:K25705]
(POF19) HSF2BP [HSA:11077] [KO:K25791]
(POF20) MSH4 [HSA:4438] [KO:K08740]
(POF21) TP63 [HSA:8626] [KO:K10149]
(POF22) KASH5 [HSA:147872] [KO:K22595]
(POF23) MEIOB [HSA:254528] [KO:K22420]
H00637 Ulnar-mammary syndrome
Schinzel syndrome 		... characterized by bilateral hypoplasia or aplasia of upper limbs on the ulnar side, mammary and apocrine gland hypoplasia, and genital abnormalities. Delayed puberty is one of the recognized features in UMS Congenital malformation TBX3 [HSA:6926] [KO:K10177]
H00640 Limb-mammary syndrome ... is a condition characterized by ectrodactyly, cleft palate, and aplasia or hypoplasia of the mammary gland and nipple. Unlike its allelic disorder EEC syndrome, LMS patients do not have hair and skin defects Congenital malformation TP63 [HSA:8626] [KO:K10149]
H00642 Lacrimo-auriculo-dento-digital syndrome
LADD syndrome
Levy-Hollister syndrome 		... is an autosomal dominant disorder characterized by hypoplasia or aplasia of the lacrimal and salivary glands, cup shaped pinnae with sensorineural deafness, dental abnormalities with small teeth, and radial ... Congenital malformation (LADD1) FGFR2 [HSA:2263] [KO:K05093]
(LADD2) FGFR3 [HSA:2261] [KO:K05094]
(LADD3) FGF10 [HSA:2255] [KO:K04358]
H00651 Hypohidrotic ectodermal dysplasia ... involvement of ectodermal structures with perturbed formation and maturation of teeth, hair, and sweat glands. HED is caused by defective epithelial-mesenchymal interaction that involves the Ectodysplasin/Edar/Edaradd ... Congenital malformation (ECTD1) EDA [HSA:1896] [KO:K05480]
(ECTD10A/10B) EDAR [HSA:10913] [KO:K05162]
(ECTD11A/11B) EDARADD [HSA:128178] [KO:K23324]
(ECTD12) KDF1 [HSA:126695] [KO:K23346]
(ECTD15) CST6 [HSA:1474] [KO:K13902]
H00677 Aplasia of lacrimal and salivary glands Aplasia of lacrimal and salivary glands (ALSG) is a rare autosomal dominant condition characterized by insufficient development of the lacrimal and salivary systems. Patients with ALSG suffer from irritable ... Congenital malformation FGF10 [HSA:2255] [KO:K04358]
H00681 Acne inversa
Hidradenitis suppurativa 		... hidradenitis suppurativa, is a chronic inflammatory disorder of hair follicles involving the apocrine gland-bearing areas of the body. Its characteristic features include recurrent formation of painful skin ... Skin disease (ACNINV1) NCSTN [HSA:23385] [KO:K06171]
(ACNINV2) PSENEN [HSA:55851] [KO:K06170]
(ACNINV3) PSEN1 [HSA:5663] [KO:K04505]
H00692 Lowe syndrome
Oculocerebrorenal Dystrophy (OCRL) 		... 5-phosphatase, present in the Golgi complex. The symptoms of Lowe syndrome include congenital cataracts and glaucoma, delay in neuropsychomotor development, cognitive deficits, and renal tubular abnormalities Inherited metabolic disorder OCRL [HSA:4952] [KO:K01099]
H00752 Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome and Rapp-Hodgkin syndrome ... Rapp-Hodgkin syndrome are rare ectodermal dysplasias characterized by ankyloblepharon filiforme adnatum and cleft lip/palate. Ectodermal findings include hair, nail, teeth and sweat gland dystrophies. Congenital malformation TP63 [HSA:8626] [KO:K10149]
H00961 Posterior polymorphous corneal dystrophy ... collagenous layer. Most cases are static, but occasionally rapid progression can result in severe visual disability from secondary glaucoma or corneal edema. Several genes have been reported as causing PPCD. Nervous system disease (PPCD1) OVOL2 [HSA:58495] [KO:K09216]
(PPCD2) COL8A2 [HSA:1296] [KO:K23455]
(PPCD3) ZEB1 [HSA:6935] [KO:K09299]
(PPCD4) GRHL2 [HSA:79977] [KO:K09275]
H00963 Congenital hereditary endothelial dystrophy ... bilateral symmetric corneal clouding (edema) with varied severity from mild opacification to milky, ground-glass opacification without other anterior segment abnormalities, usually evident at birth or in the ... Nervous system disease SLC4A11 [HSA:83959] [KO:K13862]
H00972 Endocrine-cerebro-osteodysplasia syndrome ... Old Order Amish pedigree. This syndrome comprises osteodysplasia, cerebral anomalies, and endocrine gland hypoplasia. A missense mutation in ICK encoding intestinal cell kinase has been reported in the ... Congenital malformation ICK [HSA:22858] [KO:K08828]
H01075 Peters anomaly ... lack of the posterior corneal stroma, and Descemet's membrane. Approximately half of patients develop glaucoma. The majority of cases are sporadic; however, autosomal recessive and dominant patterns of inheritance ... Congenital malformation B3GALTL [HSA:145173] [KO:K13675]
H01203 Primary congenital glaucoma
Glaucoma 3 		Primary congenital glaucoma (PCG) is a severe form of glaucoma that presents early in life. PCG results from developmental abnormalities that affect the aqueous humor outflow pathway. PCG clinical features ... Congenital malformation (GLC3A) CYP1B1 [HSA:1545] [KO:K07410]
(GLC3D) LTBP2 [HSA:4053] [KO:K08023]
(GLC3E) TEK [HSA:7010] [KO:K05121]
H01388 Hyperprolactinemia ... nonphysiological hyperprolactinemia is caused mainly by drugs or by tumors in the anterior pituitary gland, which are usually identifiable by means of magnetic resonance imaging (MRI). Some cases are due ... Endocrine and metabolic disease PRLR [HSA:5618] [KO:K05081]
H01490 Multiple sclerosis ... Authorized first-line treatments are considered equally effective, and include interferon beta and glatiramer acetate. They are primarily directed against inflammation, and might fail to adequately control ... Immune system disease (MS) PDCD1 [HSA:5133] [KO:K06744]
(MS) HLA-DRB1 [HSA:3123] [KO:K06752]
(MS) HLA-DQB1 [HSA:3119] [KO:K06752]
(MS5) TNFRSF1A [HSA:7132] [KO:K03158]
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