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Entry Name Description Category Pathway Gene
H02350 Dyschromatosis universalis hereditaria ... pigmentary disorders characterized by asymptomatic hypo- and hyper-pigmented macules of irregular size and shape which appear early in life. At least two causative genes, ABCB6 and SASH1, have been reported. Skin disease (DUH1) SASH1 [HSA:23328] [KO:K23705]
(DUH3) ABCB6 [HSA:10058] [KO:K05661]
H02362 Benign familial infantile seizure ... characterized by focal seizures, occurring mostly in clusters, and usually first seen between 4 and 8 months of life. Psychomotor development is normal, and seizures usually resolve within the first year of life. ... Nervous system disease (BFIS2) PRRT2 [HSA:112476] [KO:K23897]
(BFIS3) SCN2A [HSA:6326] [KO:K04834]
(BFIS5) SCN8A [HSA:6334] [KO:K04840]
H02393 Talaromycosis
Penicilliosis 		Talaromycosis (penicilliosis) is a life-threatening mycosis caused by the dimorphic fungus Talaromyces marneffei, which was first isolated from a bamboo rat in Vietnam in 1956. It affects primarily immunocompromised ... Fungal infectious disease
H02410 Myelodysplastic/myeloproliferative neoplasms Myelodysplastic/myeloproliferative neoplasms (MDS/MPN) are hybrid group of chronic myeloid neoplasms combining features of both myelodysplastic (MDS) [DS:H01481] and myeloproliferative neoplasms (MPN) ... Cancer DNMT3A (mutation) [HSA:1788] [KO:K17398]
TET2 (mutation) [HSA:54790] [KO:K24309]
IDH1 (mutation) [HSA:3417] [KO:K00031]
IDH2 (mutation) [HSA:3418] [KO:K00031]
ASXL1 (mutation) [HSA:171023] [KO:K11471]
EZH2 (mutation) [HSA:2146] [KO:K11430]
NRAS (mutation) [HSA:4893] [KO:K07828]
KRAS (mutation) [HSA:3845] [KO:K07827]
JAK2 (mutation) [HSA:3717] [KO:K04447]
CBL (mutation) [HSA:867] [KO:K04707]
SETBP1 (mutation) [HSA:26040] [KO:K23217]
CSF3R (mutation) [HSA:1441] [KO:K05061]
PTPN11 (mutation) [HSA:5781] [KO:K07293]
NF1 (mutation) [HSA:4763] [KO:K08052]
SF3B1 (mutation) [HSA:23451] [KO:K12828]
SRSF2 (mutation) [HSA:6427] [KO:K12891]
U2AF1 (mutation) [HSA:7307] [KO:K12836]
ZRSR2 (mutation) [HSA:8233] [KO:K24273]
RUNX1 (mutation) [HSA:861] [KO:K08367]
CEBPA (mutation) [HSA:1050] [KO:K09055]
H02411 Chronic myelomonocytic leukemia ... transformation. CMML has overlapping features of myelodysplastic syndromes (MDS) [DS:H01481] and myeloproliferative neoplasms (MPN). Gene mutations are seen in >90% of patients, with common abnormalities involving; ... Cancer TET2 (mutation) [HSA:54790] [KO:K24309]
ASXL1 (mutation) [HSA:171023] [KO:K11471]
SRSF2 (mutation) [HSA:6427] [KO:K12891]
NRAS (mutation) [HSA:4893] [KO:K07828]
KRAS (mutation) [HSA:3845] [KO:K07827]
CBL (mutation) [HSA:867] [KO:K04707]
RUNX1 (mutation) [HSA:861] [KO:K08367]
SF3B1 (mutation) [HSA:23451] [KO:K12828]
ZRSR2 (mutation) [HSA:8233] [KO:K24273]
U2AF1 (mutation) [HSA:7307] [KO:K12836]
DNMT3A (mutation) [HSA:1788] [KO:K17398]
EZH2 (mutation) [HSA:2146] [KO:K11430]
TP53 (mutation) [HSA:7157] [KO:K04451]
NPM1 (mutation) [HSA:4869] [KO:K11276]
JAK2 (mutation) [HSA:3717] [KO:K04447]
FLT3 (mutation) [HSA:2322] [KO:K05092]
H02412 Atypical chronic myeloid leukemia Atypical chronic myeloid leukemia (aCML) is a rare subtype of myelodysplastic/myeloproliferative neoplasm (MDS/MPN). It is characterized by leukocytosis, granulocytic dysplasia, and typically poor patient ... Cancer SETBP1 (mutation) [HSA:26040] [KO:K23217]
NRAS (mutation) [HSA:4893] [KO:K07828]
KRAS (mutation) [HSA:3845] [KO:K07827]
JAK2 (mutation) [HSA:3717] [KO:K04447]
CSF3R (mutation) [HSA:1441] [KO:K05061]
ASXL1 (mutation) [HSA:171023] [KO:K11471]
ETNK1 (mutation) [HSA:55500] [KO:K00894]
TET2 (mutation) [HSA:54790] [KO:K24309]
SRSF2 (mutation) [HSA:6427] [KO:K12891]
EZH2 (mutation) [HSA:2146] [KO:K11430]
RUNX1 (mutation) [HSA:861] [KO:K08367]
CBL (mutation) [HSA:867] [KO:K04707]
FLT3 (mutation) [HSA:2322] [KO:K05092]
CEBPA (mutation) [HSA:1050] [KO:K09055]
IDH2 (mutation) [HSA:3418] [KO:K00031]
H02511 Jamestown Canyon encephalitis ... meningoencephalitis. It is caused by Jamestown Canyon virus (JCV), a mosquito-borne orthobunyavirus in the California serogroup in the order Bunyavirales of -ssRNA viruses. JCV was first isolated in 1961 from mosquitoes ... Viral infectious disease
H02516 Alcoholic liver disease ... key hepatic transcriptional regulators such as AMP-activated protein kinase (AMPK) and peroxisome proliferator-activated receptor alpha (PPAR-alpha), which are responsible for fatty acid oxidation and export ... Digestive system disease hsa04936 Alcoholic liver disease
H02529 Bone marrow failure syndrome Bone marrow failure syndromes are a heterogeneous group of life-threatening disorders characterized by the inability of the bone marrow to make an adequate number of mature blood cells. Hematologic disease (BMFS1) SRP72 [HSA:6731] [KO:K03108]
(BMFS2) ERCC6L2 [HSA:375748] [KO:K20098]
(BMFS3) DNAJC21 [HSA:134218] [KO:K09506]
(BMFS4) MYSM1 [HSA:114803] [KO:K11865]
(BMFS5) TP53 [HSA:7157] [KO:K04451]
(BMFS6) MDM4 [HSA:4194] [KO:K10127]
(BMFS7) ADH5 [HSA:128] [KO:K00121]
(BMFS8) SLC30A7 [HSA:148867] [KO:K14692]
(BMFDMS) DUT [HSA:1854] [KO:K01520]
H02541 Juvenile myelomonocytic leukemia ... hematopoietic disorder of early childhood with features characteristic of both myelodysplastic and myeloproliferative disorders. Recent studies have shown that abnormal proliferation is due to aberrant signal ... Cancer PTPN11 [HSA:5781] [KO:K07293]
ARHGAP26 [HSA:23092] [KO:K20071]
CBL [HSA:867] [KO:K04707]
NF1 [HSA:4763] [KO:K08052]
NRAS [HSA:4893] [KO:K07828]
KRAS [HSA:3845] [KO:K07827]
H02561 Familial autoinflammatory syndrome with or without immunodeficiency ... by mutations in the SOCS1 gene. Patients have autoimmune cytopenia and organ-specific autoimmunity. Some patients may have symptoms of systemic lupus erythematosus [DS: H00080], or lymphoproliferation. Immune system disease SOCS1 [HSA:8651] [KO:K04694]
H02593 Chronic mucocutaneous ulceration ... ulceration (CMCU) is characterized by oral and gastrointestinal ulcerations, cytopenias, and lymphoproliferative disease. It has been reported that a heterozygous mutation in RELA, encoding the NF-kB subunit ... Immune system disease RELA [HSA:5970] [KO:K04735]
H02600 Congenital tracheal stenosis Congenital tracheal stenosis (CTS) is a rare but potentially life-threatening disorder that often leads to severe respiratory insufficiency, particularly in neonates and infants. CTS is characterized by ... Congenital malformation
H02605 Congenital pulmonary venous stenosis Congenital pulmonary venous stenosis is a rare condition with fibromyxoid intimal proliferation leading to obstruction of the large pulmonary veins and of blood flow from the lungs to the left atrium. ... Congenital malformation
H02608 Autoinflammatory-pancytopenia syndrome ... autosomal recessive disorder characterized by variably demonstrating severe neonatal anemia, membranoproliferative glomerulonephritis, liver fibrosis, deforming arthropathy, and increased anti-DNA antibodies ... Immune system disease DNASE2 [HSA:1777] [KO:K01158]
H02610 Head and neck squamous cell carcinoma ... for HNSCC. Additionally, human papillomavirus infection is another implicated risk factor. Although lifestyle factors account for the majority of HNSCCs, genetic alterations will cause some individuals ... Cancer TNFRSF10B [HSA:8795] [KO:K04722]
ING1 [HSA:3621] [KO:K19197]
H02611 Turnpenny-Fry syndrome ... been reported that mutations in PCGF2 cause this syndrome. PCGF2 plays a role in embryogenesis, cell proliferation, histone modification, and chromatin remodeling via polycomb repressive complex 1 (PRC1). Congenital malformation PCGF2 [HSA:7703] [KO:K11460]
H02627 Epidermal nevus
Sebaceous nevus 		Epidermal nevus is hamartomatous lesions derived from the epidermis and/or adnexal structures of the skin. It is often present at birth or within the first few years of life. Congenital malformation NRAS [HSA:4893] [KO:K07828]
PIK3CA [HSA:5290] [KO:K00922]
FGFR3 [HSA:2261] [KO:K05094]
HRAS [HSA:3265] [KO:K02833]
H02659 Dentici-Novelli neurodevelopmental syndrome ... neurodevelopmental syndrome is a severe neurodevelopmental disorder with microcephaly, bilateral cataract, epilepsy and simplified gyration. It has been reported that mutations in ZNF526 cause this disease. Congenital malformation ZNF526 [HSA:116115] [KO:K26978]
H02664 Joint contracture, osteochondromas, and B-cell lymphoma ... caused by complete deficiency of nuclear factor of activated T cells 1 (NFAT1). NFAT1 is encoded by NFATC2, and mediates calcium-calcineurin signals that drive cell activation, proliferation, and survival. Cancer NFATC2 [HSA:4773] [KO:K17332]
H02696 Early-onset epilepsy ... abnormality in childhood, and it is especially common in the first 2 years after birth. Seizures in early life mostly result from structural or metabolic disorders in the brain. Several genetic causes have been ... Nervous system disease (EPEO1) PLPBP [HSA:11212] [KO:K06997]
(EPEO2) SETD1A [HSA:9739] [KO:K11422]
(EPEO3) ATP6V0C [HSA:527] [KO:K02155]
(EPEO4) ALDH7A1 [HSA:501] [KO:K14085]
H02702 Tylosis with esophageal cancer ... autosomal-dominant syndrome characterized by palmoplantar keratoderma, oral precursor lesions, and a high lifetime risk of esophageal cancer. It has been reported that mutations in RHBDF2 cause this disease ... Congenital malformation RHBDF2 [HSA:79651] [KO:K27588]
H02731 Transient infantile hypertriglyceridemia ... and NAD+. The hypertriglyceridemia is associated with hepatomegaly and moderately elevated transaminases that may decrease later in life, persistent fatty liver, and the development of hepatic fibrosis. Inherited metabolic disorder GPD1 [HSA:2819] [KO:K00006]
H02733 Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies ... novel autosomal recessive multisystem syndrome. It has been reported that a ZPR1 mutation is associated with GKAF. ZPR1 encodes a regulatory protein involved in cell proliferation and signal transduction. Congenital malformation ZPR1 [HSA:8882] [KO:K06874]
241 to 264 of 264 Prev 1 2 3 4 5 6 7
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