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Entry Name Description Category Pathway Gene
H00057 Parkinson disease ... is hypothesized to impede movement by inducing hypo and hyper activity in striatal spiny projection neurons (SPNs) of the direct (dSPNs) and indirect (iSPNs) pathways in the basal ganglia, respectively. Neurodegenerative disease hsa05012 Parkinson disease (PARK1/PARK4) SNCA (duplication, triplication) [HSA:6622] [KO:K04528]
(PARK2) PRKN [HSA:5071] [KO:K04556]
(PARK5) UCHL1 [HSA:7345] [KO:K05611]
(PARK6) PINK1 [HSA:65018] [KO:K05688]
(PARK7) PARK7 [HSA:11315] [KO:K05687]
(PARK8) LRRK2 [HSA:120892] [KO:K08844]
(PARK9) ATP13A2 [HSA:23400] [KO:K13526]
(PARK11) GIGYF2 [HSA:26058] [KO:K18730]
(PARK13) HTRA2 [HSA:27429] [KO:K08669]
(PARK14) PLA2G6 [HSA:8398] [KO:K16343]
(PARK15) FBXO7 [HSA:25793] [KO:K10293]
(PARK17) VPS35 [HSA:55737] [KO:K18468]
(PARK18) EIF4G1 [HSA:1981] [KO:K03260]
(PARK19) DNAJC6 [HSA:9829] [KO:K09526]
(PARK22) CHCHD2 [HSA:51142] [KO:K22758]
(PARK23) VPS13C [HSA:54832] [KO:K19525]
(PARK24) PSAP [HSA:5660] [KO:K12382]
(PARK25) PTPA [HSA:5524] [KO:K17605]
(IDLDP) NR4A2 [HSA:4929] [KO:K08558]
MAPT [HSA:4137] [KO:K04380]
H00107 Other well-defined immunodeficiency syndromes ... the X-linked inhibitor of apoptosis (XIAP) as well as in a distinct gene, SLAM-associated protein (SAP/DSP1/SH2D1A) have been identified in patients with XLP. Recently, it has been shown that a homozygous ... Primary immunodeficiency WAS [HSA:7454] [KO:K05747]
TBX1 [HSA:6899] [KO:K10175]
STAT3 [HSA:6774] [KO:K04692]
TYK2 [HSA:7297] [KO:K11219]
SH2D1A [HSA:4068] [KO:K07990]
XIAP [HSA:331] [KO:K04725]
ITK [HSA:3702] [KO:K07363]
AIRE [HSA:326] [KO:K10603]
FOXP3 [HSA:50943] [KO:K10163]
RMRP [HSA:6023] [KO:K14576]
H00293 Arrhythmogenic right ventricular cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are progressive ... Cardiovascular disease hsa05412 Arrhythmogenic right ventricular cardiomyopathy (ARVD1) TGFB3 [HSA:7043] [KO:K13377]
(ARVD2) RYR2 [HSA:6262] [KO:K04962]
(ARVD5) TMEM43 [HSA:79188] [KO:K27488]
(ARVD8) DSP [HSA:1832] [KO:K10381]
(ARVD9) PKP2 [HSA:5318] [KO:K12642]
(ARVD10) DSG2 [HSA:1829] [KO:K07597]
(ARVD11) DSC2 [HSA:1824] [KO:K07601]
(ARVD12) JUP [HSA:3728] [KO:K10056]
(ARVD13) CTNNA3 [HSA:29119] [KO:K05691]
(ARVD14) CDH2 [HSA:1000] [KO:K06736]
H00432 Hereditary dentine disorders ... encoding collagen type 1, COL1A1 and COL1A2, underlie this condition. All other forms of DGI and DD except DD1, appear to result from mutations in the gene encoding dentine sialophosphoprotein (DSPP). Congenital malformation DSPP [HSA:1834] [KO:K23573]
H00525 Disorders of mitochondrial fatty-acid oxidation Disorders of mitochondrial fatty-acid oxidation are a group of rare inherited conditions that lead to accumulation of fatty acids and decreases in cell energy metabolism due to enzyme or transporter defects ... Inherited metabolic disorder (MCAD) ACADM [HSA:34] [KO:K00249]
(SCAD) ACADS [HSA:35] [KO:K00248]
(VLCAD) ACADVL [HSA:37] [KO:K09479]
(MTP) HADHA [HSA:3030] [KO:K07515]
(MTP) HADHB [HSA:3032] [KO:K07509]
(CPT I) CPT1A [HSA:1374] [KO:K08765]
(CPT II) CPT2 [HSA:1376] [KO:K08766]
(CACT) SLC25A20 [HSA:788] [KO:K15109]
(CDSP) SLC22A5 [HSA:6584] [KO:K08202]
(HAD) HADH [HSA:3033] [KO:K00022]
(DECR) NADK2 [HSA:133686] [KO:K00858]
(ACAD9) ACAD9 [HSA:28976] [KO:K15980]
(ECHS1) ECHS1 [HSA:1892] [KO:K07511]
H00604 Deafness, autosomal dominant Hereditary deafness is divided into syndromic forms (in which hearing loss is associated with a variety of other anomalies) and non-syndromic forms. Non-syndromic forms are responsible for 70% of the cases ... Nervous system disease (DFNA1) DIAPH1 [HSA:1729] [KO:K05740]
(DFNA2A) KCNQ4 [HSA:9132] [KO:K04929]
(DFNA2B) GJB3 [HSA:2707] [KO:K07622]
(DFNA3A) GJB2 [HSA:2706] [KO:K07621]
(DFNA3B) GJB6 [HSA:10804] [KO:K07625]
(DFNA4A) MYH14 [HSA:79784] [KO:K10352]
(DFNA4B) CEACAM16 [HSA:388551] [KO:K06499]
(DFNA5) GSDME [HSA:1687] [KO:K22146]
(DFNA6/14/38) WFS1 [HSA:7466] [KO:K14020]
(DFNA7) LMX1A [HSA:4009] [KO:K09371]
(DFNA8/12) TECTA [HSA:7007] [KO:K18273]
(DFNA9) COCH [HSA:1690] [KO:K23574]
(DFNA10) EYA4 [HSA:2070] [KO:K17622]
(DFNA11) MYO7A [HSA:4647] [KO:K10359]
(DFNA13) COL11A2 [HSA:1302] [KO:K19721]
(DFNA15) POU4F3 [HSA:5459] [KO:K09366]
(DFNA17) MYH9 [HSA:4627] [KO:K10352]
(DFNA20/26) ACTG1 [HSA:71] [KO:K05692]
(DFNA22) MYO6 [HSA:4646] [KO:K10358]
(DFNA23) SIX1 [HSA:6495] [KO:K15614]
(DFNA25) SLC17A8 [HSA:246213] [KO:K12302]
(DFNA27) REST [HSA:5978] [KO:K09222]
(DFNA28) GRHL2 [HSA:79977] [KO:K09275]
(DFNA34) NLRP3 [HSA:114548] [KO:K12800]
(DFNA36) TMC1 [HSA:117531] [KO:K21988]
(DFNA37) COL11A1 [HSA:1301] [KO:K19721]
(DFNA39) DSPP [HSA:1834] [KO:K23573]
(DFNA40) CRYM [HSA:1428] [KO:K18258]
(DFNA41) P2RX2 [HSA:22953] [KO:K05216]
(DFNA44) CCDC50 [HSA:152137] [KO:K25949]
(DFNA50) MIR96 [HSA:407053] [KO:K17114]
(DFNA56) TNC [HSA:3371] [KO:K06252]
(DFNA64) DIABLO [HSA:56616] [KO:K10522]
(DFNA65) TBC1D24 [HSA:57465] [KO:K21841]
(DFNA66) CD164 [HSA:8763] [KO:K06546]
(DFNA67) OSBPL2 [HSA:9885] [KO:K20174]
(DFNA68) HOMER2 [HSA:9455] [KO:K15010]
(DFNA69) KITLG [HSA:4254] [KO:K05461]
(DFNA70) MCM2 [HSA:4171] [KO:K02540]
(DFNA71) DMXL2 [HSA:23312] [KO:K24155]
(DFNA72) SLC44A4 [HSA:80736] [KO:K15377]
(DFNA73) PTPRQ [HSA:374462] [KO:K16910]
(DFNA74) PDE1C [HSA:5137] [KO:K13755]
(DFNA75) TRRAP [HSA:8295] [KO:K08874]
(DFNA76) PLS1 [HSA:5357] [KO:K17275]
(DFNA77) ABCC1 [HSA:4363] [KO:K05665]
(DFNA78) SLC12A2 [HSA:6558] [KO:K10951]
(DFNA79) SCD5 [HSA:79966] [KO:K00507]
(DFNA80) GREB1L [HSA:80000] [KO:K27478]
(DFNA81) ELMOD3 [HSA:84173] [KO:K23538]
(DFNA82) ATP2B2 [HSA:491] [KO:K05850]
(DFNA83) MAP1B [HSA:4131] [KO:K10429]
(DFNA84) ATP11A [HSA:23250] [KO:K26934]
(DFNA85) USP48 [HSA:84196] [KO:K11858]
(DFNA86) THOC1 [HSA:9984] [KO:K12878]
(DFNA87) PI4KB [HSA:5298] [KO:K19801]
(DFNA88) EPHA10 [HSA:284656] [KO:K08897]
(DFNA89) ATOH1 [HSA:474] [KO:K09083]
(DFNA90) MYO3A [HSA:53904] [KO:K08834]
H00689 Delayed sleep phase disorder Delayed sleep phase disorder (DSPD) is characterized by a 3 to 6-hour delayed sleep schedule relative to the desired. The single nucleotide polymorphism (Ala129Thr) in Arylalkylamine N-acetyltransferase ... Nervous system disease CRY1 [HSA:1407] [KO:K02295]
H00717 Striate palmoplantar keratoderma ... fingers and on the palm as well as by focal hyperkeratosis on the soles. SPPK is a heterogenous group of disorders caused by mutations in either desmoglein 1 (DSG1), desmoplakin (DSP), or keratin 1 (KRT1). Congenital malformation (PPKS1) DSG1 [HSA:1828] [KO:K07596]
(PPKS2) DSP [HSA:1832] [KO:K10381]
(PPKS3) KRT1 [HSA:3848] [KO:K07605]
H00802 Ehlers-Danlos syndrome ... type (EDSDERMS), kyphoscoliosis type (EDSKSCL), brittle cornea syndrome (BCS), spondylodysplastic type (EDSSPD), musculocontractural type (EDSMC), myopathic type (EDSMYP), and periodontal type (EDSPD). Congenital malformation (EDSCL1) COL5A1 [HSA:1289] [KO:K19721]
(EDSCL2) COL5A2 [HSA:1290] [KO:K19721]
(EDSCLL) TNXB [HSA:7148] [KO:K06252]
(EDSCLL2) AEBP1 [HSA:165] [KO:K21392]
H00893 Cardiomyopathy, dilated, with woolly hair and keratoderma Dilated cardiomyopathy with woolly hair and keratoderma (DCWHK) is a rare autosomal recessive genodermatosis caused by defective desmoplakin, an important desmosomal plaque protein. DCWHK is characterized ... Congenital malformation DSP [HSA:1832] [KO:K10381]
H01459 Diabetic neuropathy ... demyelinating), which affect all organs and systems. Of all types, diabetic sensorimotor polyneuropathy (DSPN), also called distal symmetric neuropathy, is the most typical form. Typical symptoms vary from ... Endocrine and metabolic disease; Nervous system disease VEGFA (polymorphism) [HSA:7422] [KO:K05448]
H01589 Systemic primary carnitine deficiency Systemic primary carnitine deficiency is a rare autosomal recessive disorder characterized by cardiomyopathy, muscle weakness, hypoglycemic hypoketotic coma, and hyperammonemia. Carnitine plays essential ... Inherited metabolic disorder (CDSP) SLC22A5 [HSA:6584] [KO:K08202]
H01737 Epidermolysis bullosa Inherited epidermolysis bullosa (EB) is a diverse group of disorders that encompass dozens of clinically and genotypically distinct diseases. It is characterized by mechanically fragile skin that readily ... Congenital malformation (EBLA) DSP [HSA:1832] [KO:K10381]
H01933 Porokeratosis ... have been described; classic porokeratosis of Mibelli (PM), disseminated superficial porokeratosis (DSP), disseminated superficial actinic porokeratosis (DSAP), punctate porokeratosis (PP), porokeratosis ... Congenital malformation (POROK1) PMVK [HSA:10654] [KO:K13273]
(POROK3) MVK [HSA:4598] [KO:K00869]
(POROK7) MVD [HSA:4597] [KO:K01597]
(POROK8) SLC17A9 [HSA:63910] [KO:K12303]
(POROK9) FDPS [HSA:2224] [KO:K00787]
H02094 Carvajal syndrome
Dilated cardiomyopathy with woolly hair and keratoderma 		Carvajal syndrome is an autosomal recessive disorder, manifesting with dilated left ventricular cardiomyopathy, woolly hair, and palmoplantar keratoma. Carvajal syndrome is considered as a variant of Naxos ... Congenital malformation DSP [HSA:1832] [KO:K10381]
H02187 Spondyloepimetaphyseal dysplasia Spondyloepimetaphyseal dysplasia (SEMD) is a heterogeneous group of skeletal dysplasias (dwarfing disorders) characterized by abnormal epiphyses, with varying degrees of metaphyseal irregularities, flattened ... Congenital malformation (SEMDSTWK) COL2A1 [HSA:1280] [KO:K19719]
(SEMDSH) DDRGK1 [HSA:65992] [KO:K23344]
(SEMDFA) RSPRY1 [HSA:89970] [KO:K23332]
(SEMDDR) UFSP2 [HSA:55325] [KO:K01376]
(SEMDIST) RPL13 [HSA:6137] [KO:K02873]
(SEMDIK) SIK3 [HSA:23387] [KO:K19009]
(SEMDAG) ACAN [HSA:176] [KO:K06792]
(SEMDG) NANS [HSA:54187] [KO:K05304]
(SEMDSP) TONSL [HSA:4796] [KO:K09257]
(SEMDX) BGN [HSA:633] [KO:K08118]
(SEMDM) MMP13 [HSA:4322] [KO:K07994]
(SEMDHL) AIFM1 [HSA:9131] [KO:K04727]
(SEMDGC) ERI1 [HSA:90459] [KO:K18416]
H02240 Ehlers-Danlos syndrome periodontal type Ehlers-Danlos syndrome periodontal type (EDSPD) is an autosomal-dominant disorder characterized by early-onset periodontitis leading to premature loss of teeth, joint hypermobility, and mild skin findings ... Congenital malformation (EDSPD1) C1R [HSA:715] [KO:K01330]
(EDSPD2) C1S [HSA:716] [KO:K01331]
H02348 Dentin dysplasia Dentin dysplasia (DD/DTDP) is a rare hereditary disturbance of dentin formation. Dentin dysplasia is divided into two main classes based on the clinical and radiographic appearance, type I (DD1/DTDP1) ... Congenital malformation (DTDP1) SMOC2 [HSA:64094] [KO:K24354]
(DTDP2) DSPP [HSA:1834] [KO:K23573]
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