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Entry Name Description Category Pathway Gene
H00720 Long QT syndrome Long QT syndrome (LQTS) is a cardiovascular disorder resulting from mutations in cardiac ion channels. LQTS is characterized by prolongation of the QT interval in the electrocardiogram (ECG) and a propensity ... Cardiovascular disease (LQT1) KCNQ1 [HSA:3784] [KO:K04926]
(LQT2) KCNH2 [HSA:3757] [KO:K04905]
(LQT3) SCN5A [HSA:6331] [KO:K04838]
(LQT4) ANK2 [HSA:287] [KO:K09255]
(LQT5) KCNE1 [HSA:3753] [KO:K04894]
(LQT6) KCNE2 [HSA:9992] [KO:K04896]
(LQT7) KCNJ2 [HSA:3759] [KO:K04996]
(LQT8) CACNA1C [HSA:775] [KO:K04850]
(LQT9) CAV3 [HSA:859] [KO:K12959]
(LQT10) SCN4B [HSA:6330] [KO:K04848]
(LQT11) AKAP9 [HSA:10142] [KO:K16551]
(LQT12) SNTA1 [HSA:6640] [KO:K24063]
(LQT13) KCNJ5 [HSA:3762] [KO:K04999]
(LQT14) CALM1 [HSA:801] [KO:K02183]
(LQT15) CALM2 [HSA:805] [KO:K02183]
(LQT16) CALM3 [HSA:808] [KO:K02183]
H00832 Core neuroacanthocytosis syndromes Neuroacanthocytosis (NA) syndromes are a heterogeneous group of diseases in which nervous system abnormalities coincide with red blood cell acanthocytosis. Core NA syndromes are one of the broad groups ... Nervous system disease (CHAC) VPS13A [HSA:23230] [KO:K19525]
(MLS) XK [HSA:7504] [KO:K19522]
(HDL2) JPH3 [HSA:57338] [KO:K19530]
(PKAN) PANK2 [HSA:80025] [KO:K09680]
H00833 Neurodegeneration with brain iron accumulation ... pantothenate kinase-2 associated neurodegeneration (PKAN) with a mutation in the pantothenate kinase 2 (PANK2) gene. Other forms are associated with a mutation in phospholipase A2 (PLA2G6), and FTL (neuroferritinopathy) ... Nervous system disease (NBIA1) PANK2 [HSA:80025] [KO:K09680]
(NBIA2A, NBIA2B) PLA2G6 [HSA:8398] [KO:K16343]
(NBIA3) FTL [HSA:2512] [KO:K13625]
(NBIA4) C19orf12 [HSA:83636] [KO:K23168]
(NBIA5) WDR45 [HSA:11152] [KO:K22991]
(NBIA6) COASY [HSA:80347] [KO:K02318]
(NBIA7) REPS1 [HSA:85021] [KO:K20068]
(NBIA8) CRAT [HSA:1384] [KO:K00624]
(NBIA9) FTH1 [HSA:2495] [KO:K00522]
H01657 Nephrotic syndrome Nephrotic syndrome (NPHS) is a heterogeneous group of disorders characterized by heavy proteinuria (more than 3.5 grams per day), hypoalbuminemia, hyperlipidemia, and edema. Congenital nephrotic syndrome ... Urinary system disease (NPHS1) NPHS1 [HSA:4868] [KO:K24496]
(NPHS2) NPHS2 [HSA:7827] [KO:K18268]
(NPHS3) PLCE1 [HSA:51196] [KO:K05860]
(NPHS4) WT1 [HSA:7490] [KO:K09234]
(NPHS5) LAMB2 [HSA:3913] [KO:K06243]
(NPHS6) PTPRO [HSA:5800] [KO:K18035]
(NPHS7) DGKE [HSA:8526] [KO:K00901]
(NPHS8) ARHGDIA [HSA:396] [KO:K12462]
(NPHS9) COQ8B [HSA:79934] [KO:K08869]
(NPHS10) EMP2 [HSA:2013] [KO:K26256]
(NPHS11) NUP107 [HSA:57122] [KO:K14301]
(NPHS12) NUP93 [HSA:9688] [KO:K14309]
(NPHS13) NUP205 [HSA:23165] [KO:K14310]
(NPHS14) SGPL1 [HSA:8879] [KO:K01634]
(NPHS15) MAGI2 [HSA:9863] [KO:K05629]
(NPHS16) KANK2 [HSA:25959] [KO:K22808]
(NPHS17) NUP85 [HSA:79902] [KO:K14304]
(NPHS18) NUP133 [HSA:55746] [KO:K14300]
(NPHS19) NUP160 [HSA:23279] [KO:K14303]
(NPHS20) TBC1D8B [HSA:54885] [KO:K19951]
(NPHS21/25) AVIL [HSA:10677] [KO:K08017]
(NPHS22) NOS1AP [HSA:9722] [KO:K16513]
(NPHS23) KIRREL1 [HSA:55243] [KO:K25874]
(NPHS24) DAAM2 [HSA:23500] [KO:K04512]
(NPHS26) LAMA5 [HSA:3911] [KO:K06240]
H02111 Autism
Autistic spectrum disorder
Pervasive developmental disorder 		Autism, also known as autistic spectrum disorder (ASD), is a common childhood onset neurodevelopmental disorder, characterised by severe deficits in socialisation, communication, and repetitive or unusual ... Mental and behavioural disorder (AUTS15) CNTNAP2 [HSA:26047] [KO:K07380]
(AUTS16) SLC9A9 [HSA:285195] [KO:K14725]
(AUTS17) SHANK2 [HSA:22941] [KO:K15009]
(AUTS18) CHD8 [HSA:57680] [KO:K04494]
(AUTS19) EIF4E [HSA:1977] [KO:K03259]
(AUTS20) NLGN1 [HSA:22871] [KO:K07378]
(AUTSX1) NLGN3 [HSA:54413] [KO:K07378]
(AUTSX2) NLGN4X [HSA:57502] [KO:K07378]
(AUTSX3) MECP2 [HSA:4204] [KO:K11588]
(AUTSX4) PTCHD1 [HSA:139411] [KO:K24682]
(AUTSX5) RPL10 [HSA:6134] [KO:K02866]
(AUTSX6) TMLHE [HSA:55217] [KO:K00474]
H02208 Pantothenate kinase-associated neurodegeneration
Hallervorden-Spatz disease
Neurodegeneration with brain iron accumulation 1 		... features include extrapyramidal dysfunction, onset in childhood, and a relentlessly progressive course. Mutations in PANK2 gene encoding the mitochondrial pantothenate kinase have been found in patients. Nervous system disease PANK2 [HSA:80025] [KO:K09680]
H02209 HARP syndrome ... neurodegeneration (PKAN). Both HARP and PKAN are caused by mutations in the gene encoding pantothenate kinase 2 (PANK2). HARP is distinguished by a specific lipoprotein abnormality. Patients have decreased or absent ... Nervous system disease PANK2 [HSA:80025] [KO:K09680]
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