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Entry Name Description Category Pathway Gene
H02516 Alcoholic liver disease ... (ROS) and ER stress. ROS inhibits key hepatic transcriptional regulators such as AMP-activated protein kinase (AMPK) and peroxisome proliferator-activated receptor alpha (PPAR-alpha), which are responsible ... Digestive system disease hsa04936 Alcoholic liver disease
H02520 Phosphoenolpyruvate carboxykinase deficiency Phosphoenolpyruvate carboxykinase deficiency (PCKD) is a rare disorder of gluconeogenesis presenting with recurrent hypoglycemia, hepatic dysfunction, and lactic acidosis. There are two discrete subcellular ... Inherited metabolic disorder (PCKDC) PCK1 [HSA:5105] [KO:K01596]
(PCKDM) PCK2 [HSA:5106] [KO:K01596]
H02537 Autoinflammation, immune dysregulation, and eosinophilia ... gain-of-function mutations in JAK1. JAK-STAT signaling pathway plays an integral role in extracellular cytokine and growth factor signaling, as well as in controlling hematopoiesis and immune function. It has ... Immune system disease JAK1 [HSA:3716] [KO:K11217]
H02545 Hypertryptophanemia ... melatonin. It has been described that some patients had growth and developmental delay, ataxia, and photosensitive skin rash. Recently, HYPTRP due to tryptophan 2,3-dioxygenase deficiency has been reported. Inherited metabolic disorder (HYPTRP) TDO2 [HSA:6999] [KO:K00453]
H02555 Muckle-Wells syndrome ... conjunctivitis, and sensorineural hearing loss. In MWS, NLRP3 gene mutations are associated with excessive interleukin-1 release. MWS is part of a spectrum of cryopyrin-associated periodic syndrome (CAPS). Immune system disease NLRP3 [HSA:114548] [KO:K12800]
H02559 Microvascular complications of diabetes ... vessels contribute to pathologic and functional changes in many tissues, including eye, heart, kidney, skin, and neuronal tissues. These changes are traditionally known as diabetic retinopathy, nephropathy ... Endocrine and metabolic disease (MVCD1) VEGFA [HSA:7422] [KO:K05448]
(MVCD2) EPO [HSA:2056] [KO:K05437]
(MVCD3) ACE [HSA:1636] [KO:K01283]
(MVCD4) IL1RN [HSA:3557] [KO:K05481]
(MVCD5) PON1 [HSA:5444] [KO:K01045]
(MVCD6) SOD2 [HSA:6648] [KO:K04564]
(MVCD7) HFE [HSA:3077] [KO:K26535]
H02591 Interleukin-18 binding protein deficiency Interleukin-18 binding protein deficiency is caused by inborn errors in IL18BP, which encodes IL-18 binding protein (IL-18BP), resulting in fulminant viral hepatitis (FVH) by unleashing IL-18. IL-18BP ... Immune system disease IL18BP [HSA:10068] [KO:K25565]
H02594 Congenital facial palsy with ptosis and velopharyngeal dysfunction ... gene encoding a class V tubulin. Tubulins form microtubules, which are essential for the cytoskeleton and thereby for cell division, differentiation and migration as well as intracellular trafficking. Nervous system disease TUBB6 [HSA:84617] [KO:K07375]
H02595 Oculoskeletodental syndrome ... loss-of-function mutations in PIK3C2A cause this syndrome. PIK3C2A is a class II member of the phosphoinositide 3-kinase family of lipid kinases that catalyzes the phosphorylation of phosphatidylinositol. Congenital malformation PIK3C2A [HSA:5286] [KO:K00923]
H02607 Short stature and microcephaly with genital anomalies ... autosomal recessive syndrome of severe growth failure. It has been reported that mutations in CENPT cause this syndrome. CENPT is an inner kinetochore member and involved in kinetochore targeting and assembly. Congenital malformation CENPT [HSA:80152] [KO:K11512]
H02610 Head and neck squamous cell carcinoma ... common cancer in the world, affecting the pharynx, larynx and oral cavity. It is well known that smoking and alcohol abuse are major risk factors for HNSCC. Additionally, human papillomavirus infection ... Cancer TNFRSF10B [HSA:8795] [KO:K04722]
ING1 [HSA:3621] [KO:K19197]
H02621 X-linked systemic autoinflammatory disease
NEMO deleted exon 5 autoinflammatory syndrome 		... lead to overexpression of a NEMO protein isoform. Patients with SAIDX present with uveitis, predominantly lymphohistiocytic panniculitis, hepatitis, and a striking lack of severe or recurrent infections. Immune system disease IKBKG [HSA:8517] [KO:K07210]
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]
H02635 Poirier-Bienvenu neurodevelopmental syndrome ... delay. It has been reported that mutations in CSNK2B cause this syndrome. CSNK2B encodes the beta subunit of casein kinase II (CK2), plays an important role in neuron morphology and synaptic transmission. Congenital malformation CSNK2B [HSA:1460] [KO:K03115]
H02642 Retinal arterial macroaneurysm with supravalvular pulmonic stenosis ... biological functions have emerged for IGFBP7. The first is related to its tumor suppressor action by blocking the BRAF-MEK-ERK signaling. The second is related to its ability to block VEGF-induced angiogenesis Nervous system disease IGFBP7 [HSA:3490] [KO:K23580]
H02648 Acantholytic blistering of the oral and laryngeal mucosa ... mucosa (ABOLM) is a rare disease characterized by recurrent erosions in a tongue and laryngeal mucosa. Skin, conjunctival and genital mucosa, hair, and nails are unaffected. It has been reported that mutations ... Digestive system disease DSG3 [HSA:1830] [KO:K07598]
H02656 X-linked multisystem autoinflammatory disease with immune dysregulation ... anemia. X-linked germline mutations in DOCK11 in the patients have been identified. Dedicator of cytokinesis (DOCK) proteins play a central role in actin cytoskeleton regulation. DOCK11 activates CDC42 ... Immune system disease DOCK11 [HSA:139818] [KO:K21853]
H02660 Autoinflammation with pulmonary and cutaneous vasculitis ... progresses to fibrosis. It has been reported that AIPCV is caused by a de novo activating mutation in hematopoietic cell kinase (HCK). HCK is a member of the Src family of non-receptor tyrosine kinases. Immune system disease HCK [HSA:3055] [KO:K08893]
H02663 Braddock-Carey syndrome ... has also been reported that mutations in KIF15 (chromosome 3p21) cause BRDCS. KIF15 is a member of the kinesin superfamily, microtubule-based motor proteins with important cellular functions ranging from ... Congenital malformation (BRDCS2) KIF15 [HSA:56992] [KO:K10400]
H02665 Reticulate acropigmentation of Kitamura Reticulate acropigmentation of Kitamura (RAK) is a rare autosomal dominant disorder of cutaneous pigmentation. The typical clinical features are reticulate and sharply demarcated brown macules, affecting ... Skin disease ADAM10 [HSA:102] [KO:K06704]
H02666 Chilton-Okur-Chung neurodevelopmental syndrome ... mutations in CDC42BPB cause this syndrome. CDC42BPB encodes myotonic dystrophy-related Cdc42-binding kinase beta (MRCKB), which plays an important role in the regulation of cytoskeletal reorganization and ... Congenital malformation CDC42BPB [HSA:9578] [KO:K16307]
H02672 Systemic autoinflammatory disease with vasculitis ... gain-of-function mutations in LYN associated with this disease. LYN is a member of the Src family of protein tyrosine kinases, and plays an important role in the regulation of innate and adaptive immune responses. Immune system disease LYN [HSA:4067] [KO:K05854]
H02676 Infantile-onset parkinsonism-dystonia Infantile-onset parkinsonism-dystonia (PKDYS) is a heterogeneous group of inherited disorders characterized by abnormal movements, including parkinsonism, dystonia, and developmental delay. Nervous system disease (PKDYS1) SLC6A3 [HSA:6531] [KO:K05036]
(PKDYS2) SLC18A2 [HSA:6571] [KO:K08155]
(PKDYS3) WARS2 [HSA:10352] [KO:K01867]
H02682 Nizon-Isidor syndrome ... impairment. It has been reported that mutations in MED12L cause this disease. MED12L is a subunit of the kinase module, which is one of the four subcomplexes of the mediator complex. Mediator complex is a key ... Mental and behavioural disorder MED12L [HSA:116931] [KO:K15162]
H02683 Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities ... autosomal recessive cardio-cutaneous syndrome, characterized by dilated cardiomyopathy associated with mild skin, teeth, and hair abnormalities. It has been reported that mutations in PPP1R13L cause this disease ... Congenital malformation PPP1R13L [HSA:10848] [KO:K27356]
H02692 Usmani-Riazuddin syndrome ... gamma-1 subunit of adaptor-related protein complex 1. Adaptor protein (AP) complexes mediate selective intracellular vesicular trafficking and polarized localization of somatodendritic proteins in neurons. Nervous system disease AP1G1 [HSA:164] [KO:K12391]
H02703 VISS syndrome VISS syndrome (vascular aneurysm, immune dysregulation, skeletal anomalies, and skin and joint laxity) is a syndromic connective tissue disorder caused by bi-allelic mutations in IPO8. Importin 8, encoded ... Congenital malformation IPO8 [HSA:10526] [KO:K18755]
H02708 Baralle-Macken syndrome ... COPB1 encodes the beta-subunit of coat protein complex 1 (COPI), that is integral in the sorting and retrograde trafficking of proteins and lipids from the Golgi apparatus to the endoplasmic reticulum. Congenital malformation COPB1 [HSA:1315] [KO:K17301]
H02709 Neurodevelopmental disorder with aminoacyl-tRNA synthetase defect ... (aaRSs) are an evolutionarily ancient family of enzymes that catalyze the esterification reaction linking a transfer RNA (tRNA) with its cognate amino acid matching the anticodon triplet of the tRNA. To ... Congenital malformation (NEDMAS) SARS1 [HSA:6301] [KO:K01875]
(NDMSCA) VARS1 [HSA:7407] [KO:K01873]
(NEDMILEG) NARS1 [HSA:4677] [KO:K01893]
(NEMMLAS) WARS2 [HSA:10352] [KO:K01867]
(NEDMSBA) WARS1 [HSA:7453] [KO:K01867]
H02710 Yuksel-Vogel-Bauer syndrome ... heart disease and craniofacial malformations. DLG5 is a member of the membrane-associated guanylate kinase family of proteins and participates in regulation of Hippo, sonic Hedgehog, and TGF beta signaling Congenital malformation DLG5 [HSA:9231] [KO:K24050]
H02722 Nevus comedonicus ... lines of Blaschko. The cause of NC has been proven to be somatic mutations of the NEK9 gene. NEK9 is a serine/threonine kinase that functions as an important regulator of cell-cycle and checkpoint control. Congenital malformation NEK9 [HSA:91754] [KO:K20878]
H02724 Combined osteogenesis imperfecta and Ehlers-Danlos syndrome ... sclerae, short stature) and Ehlers-Danlos syndrome (joint hyperextensibility, soft and hyperextensible skin, abnormal wound healing, easy bruising, vascular fragility). Mutations in COL1A1 are involved in ... Congenital malformation (OIEDS1) COL1A1 [HSA:1277] [KO:K06236]
(OIEDS2) COL1A2 [HSA:1278] [KO:K06236]
H02726 Kaya-Barakat-Masson syndrome ... microcephaly. It has been reported that mutations in YIF1B cause this syndrome. YIF1B encodes a trafficking protein involved in anterograde traffic from the endoplasmic reticulum to the cell membrane, and ... Congenital malformation YIF1B [HSA:90522] [KO:K20362]
H02727 Triokinase and FMN cyclase deficiency syndrome Triokinase and FMN cyclase deficiency syndrome (TKFCD) is a multisystem disease variably including cataracts, developmental delay, liver dysfunction, cerebellar hypoplasia, and fatal cardiomyopathy with ... Inherited metabolic disorder TKFC [HSA:26007] [KO:K00863]
H02728 Marbach-Schaaf neurodevelopmental syndrome ... spectrum disorder, and apraxia/dyspraxia. It has been reported mutations in PRKAR1B cause this syndrome. PRKAR1B encodes a regulatory subunit of the cyclic AMP-dependent protein kinase A protein complex. Congenital malformation PRKAR1B [HSA:5575] [KO:K04739]
H02743 KINSSHIP syndrome KINSSHIP syndrome is an autosomal dominant disorder characterized by horseshoe kidney, mesomelic dysplasia, seizures, hypertrichosis, intellectual disability, and pulmonary involvement. It has been reported ... Congenital malformation AFF3 [HSA:3899] [KO:K15195]
H02748 Hepatorenocardiac degenerative fibrosis ... progressive fibrotic liver disease and variable kidney and heart disease. It has been reported that mutations in TULP3 cause this disease. TULP3 encodes a critical adaptor protein for ciliary trafficking. Congenital malformation TULP3 [HSA:7289] [KO:K19600]
H02758 ACCES syndrome ... SUMOylation does not only target proteins for degradation, but is also involved in cell cycle regulation, subcellular trafficking, signal transduction, stress responses, and chromatin structure dynamics. Congenital malformation UBA2 [HSA:10054] [KO:K10685]
H02762 Osteo-oto-hepato-enteric syndrome ... this syndrome. UNC45A belongs to the conserved UCS protein family of myosin cochaperones, which participates in myosin-dependent functions, including cytokinesis, endocytosis, and muscle organization. Congenital malformation UNC45A [HSA:55898] [KO:K21991]
H02764 Short stature, hearing loss, retinitis pigmentosa, and distinctive facies ... sensorineural hearing loss, short stature, brachydactyly, a recognizable facial gestalt, premature skin aging and mild intellectual disability. EXOSC2 encodes a cap protein of the RNA exosome, the main ... Congenital malformation EXOSC2 [HSA:23404] [KO:K03679]
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