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Entry Name Description Category Pathway Gene
H00493 Heparan sulfate proteoglycan gene defects ... proteoglycans (HSPGs), which present in cartilage, are associated with skeletal growth disorders. Mutations in either HS biosynthetic enzymes or HS proteoglycan core proteins have been reported so far. Congenital malformation (DDSH/SJS1) HSPG2 [HSA:3339] [KO:K06255]
(SGBS1) GPC3 [HSA:2719] [KO:K08109]
(OMOD1) GPC6 [HSA:10082] [KO:K08112]
(EXT1) EXT1 [HSA:2131] [KO:K02366]
(EXT2) EXT2 [HSA:2132] [KO:K02367]
H00494 Desbuquois syndrome
Desbuquois dysplasia (DBQD) 		... recessive chondrodysplasia. Highly characteristic appearance of proximal femur, called 'Swedish key', is reported in the disease. Mutations in the calcium-activated nucleotidase 1 gene (CANT1) and xylosyltransferase ... Congenital malformation (DBQD1) CANT1 [HSA:124583] [KO:K12304]
(DBQD2) XYLT1 [HSA:64131] [KO:K00771]
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]
H00504 Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome (RSTS) is an autosomal dominant disorder with distinctive facial features, broad thumbs and toes, and mental retardation. Mutations in CREBBP and EP300 have been reported in the syndrome. Congenital malformation (RSTS1) CREBBP [HSA:1387] [KO:K04498]
(RSTS2) EP300 [HSA:2033] [KO:K04498]
H00507 Dyskeratosis congenita ... inheritance pattern is X-linked recessive, while autosomal dominant and autosomal recessive forms have been reported. Remarkably, all causative gene mutations identified to date share a link to telomere/telomerase ... Ribosomopathy (DKCX) DKC1 [HSA:1736] [KO:K11131]
(DKCA1) TERC [HSA:7012] [KO:K22183]
(DKCA2/B4) TERT [HSA:7015] [KO:K11126]
(DKCA3/A5) TINF2 [HSA:26277] [KO:K11112]
(DKCA4/B5) RTEL1 [HSA:51750] [KO:K11136]
(DKCA6/B7) ACD [HSA:65057] [KO:K11114]
(DKCB1) NOP10 [HSA:55505] [KO:K11130]
(DKCB2) NHP2 [HSA:55651] [KO:K11129]
(DKCB3) WRAP53 [HSA:55135] [KO:K23314]
(DKCB6) PARN [HSA:5073] [KO:K01148]
(DKCB8) DCLRE1B [HSA:64858] [KO:K15341]
(DKCD) TYMS [HSA:7298] [KO:K00560]
H00522 Brachyolmia ... calcium-permeable nonselective cation channel, have been identified in an autosomal dominant form of brachyolmia (BCYM3). And it has been reported that PAPSS2 mutations cause autosomal recessive brachyolmia (BCRM4). Congenital malformation (BCYM3) TRPV4 [HSA:59341] [KO:K04973]
(BCYM4) PAPSS2 [HSA:9060] [KO:K13811]
H00532 Parkes Weber syndrome ... vascular stain with multiple underlying subcutaneous and intramuscular arteriovenous fistulas (AVF), and overgrowth of the affected extremity. It has been reported that PWS is caused by RASA1 mutations. Congenital malformation RASA1 [HSA:5921] [KO:K04352]
H00533 Hereditary hemorrhagic telangiectasia
Osler disease 		... hepatic, cerebral, and spinal circulations. The disease arises from defects in TGF-beta signaling. It has been reported that mutations in SMAD4 cause the combined juvenile polyposis and HHT (JPHT) syndrome. Congenital malformation (HHT1) ENG [HSA:2022] [KO:K06526]
(HHT2) ACVRL1 [HSA:94] [KO:K13594]
(HHT5) GDF2 [HSA:2658] [KO:K05503]
(JPHT) SMAD4 [HSA:4089] [KO:K04501]
H00560 Pseudoxanthoma elasticum ... and the arterial blood vessels. The mutated gene is identified as ABCC6, an ATP-binding cassette transporter. Recently, mutations in the GGCX gene in a family with PXE-like phenotypes have been reported. Congenital malformation (PXE) ABCC6 [HSA:368] [KO:K05669]
(PXE) XYLT1 [HSA:64131] [KO:K00771]
(PXE) XYLT2 [HSA:64132] [KO:K00771]
(PXE-like) GGCX [HSA:2677] [KO:K10106]
H00567 Limb-girdle muscular dystrophy 1C
Limb-girdle muscular dystrophy, caveolin myopathy 		... characterized by a progressive weakness of the pelvic and shoulder girdle musculature. It has been reported that loss-of-function mutations in caveolin-3 gene are associated with a form of muscular dystrophy ... Nervous system disease; Musculoskeletal disease CAV3 [HSA:859] [KO:K12959]
H00589 Familial exudative vitreoretinopathy ... creation of a fibrovascular membrane located behind the lens. Mutations in NDP, FZD4, and LRP5 have been reported to be responsible for ophthalmic diseases including Norrie disease, FEVR, and osteoporosis pseudoglioma ... Nervous system disease (EVR1) FZD4 [HSA:8322] [KO:K02354]
(EVR2) NDP [HSA:4693] [KO:K25688]
(EVR4) LRP5 [HSA:4041] [KO:K03068]
(EVR5) TSPAN12 [HSA:23554] [KO:K17355]
(EVR6) ZNF408 [HSA:79797] [KO:K24372]
(EVR7) CTNNB1 [HSA:1499] [KO:K02105]
H00592 Calpainopathy
Limb-girdle muscular dystrophy 2A 		... an elevated serum creatine kinase activity and a degeneration/regeneration pattern in muscular biopsy samples. Recently, families with autosomal dominant LGMD due to CAPN3 mutations have been reported. Nervous system disease; Musculoskeletal disease (LGMDR1/LGMDD4) CAPN3 [HSA:825] [KO:K08573]
H00600 Mullerian agenesis
Mayer Rokitansky Kuster Hauser syndrome 		... utero-vaginal atresia in an otherwise phenotypically normal female with a normal 46,XX karyotype. It has been reported that Mullerian aplasia and hyperandrogenism is caused by mutations in the WNT4 gene. WNT4, a ... Reproductive system disease WNT4 [HSA:54361] [KO:K00408]
H00601 Hutchinson-Gilford progeria syndrome ... year of life. Severe premature atherosclerosis can cause the death at an average age of 13.5 years. Mutations in lamin A/C, an important structural component of the nuclear envelope, have been reported. Inherited metabolic disorder LMNA [HSA:4000] [KO:K12641]
H00606 Early infantile epileptic encephalopathy
Developmental and epileptic encephalopathy
Ohtahara syndrome 		... suppression-burst pattern in electroencephalography (EEG). Many causes have been considered for EIEE. It has been reported that 75% of the cases subsequently evolve to West syndrome, and later a much smaller number progress ... Nervous system disease (DEE1) ARX [HSA:170302] [KO:K09452]
(DEE2) CDKL5 [HSA:6792] [KO:K08824]
(DEE3) SLC25A22 [HSA:79751] [KO:K15107]
(DEE4) STXBP1 [HSA:6812] [KO:K15292]
(DEE5) SPTAN1 [HSA:6709] [KO:K06114]
(DEE6B) SCN1A [HSA:6323] [KO:K04833]
(DEE7) KCNQ2 [HSA:3785] [KO:K04927]
(DEE8) ARHGEF9 [HSA:23229] [KO:K20686]
(DEE9) PCDH19 [HSA:57526] [KO:K16499]
(DEE10) PNKP [HSA:11284] [KO:K08073]
(DEE11) SCN2A [HSA:6326] [KO:K04834]
(DEE12) PLCB1 [HSA:23236] [KO:K05858]
(DEE13) SCN8A [HSA:6334] [KO:K04840]
(DEE14) KCNT1 [HSA:57582] [KO:K04946]
(DEE15) ST3GAL3 [HSA:6487] [KO:K00781]
(DEE16) TBC1D24 [HSA:57465] [KO:K21841]
(DEE17) GNAO1 [HSA:2775] [KO:K04534]
(DEE18) SZT2 [HSA:23334] [KO:K23298]
(DEE19) GABRA1 [HSA:2554] [KO:K05175]
(DEE21) NECAP1 [HSA:25977] [KO:K20069]
(DEE22) SLC35A2 [HSA:7355] [KO:K15272]
(DEE23) DOCK7 [HSA:85440] [KO:K21852]
(DEE24) HCN1 [HSA:348980] [KO:K04954]
(DEE25) SLC13A5 [HSA:284111] [KO:K14445]
(DEE26) KCNB1 [HSA:3745] [KO:K04885]
(DEE27) GRIN2B [HSA:2904] [KO:K05210]
(DEE28) WWOX [HSA:51741] [KO:K19329]
(DEE29) AARS [HSA:16] [KO:K01872]
(DEE30) SIK1 [HSA:150094] [KO:K19008]
(DEE31A/31B) DNM1 [HSA:1759] [KO:K01528]
(DEE32) KCNA2 [HSA:3737] [KO:K04875]
(DEE33) EEF1A2 [HSA:1917] [KO:K03231]
(DEE34) SLC12A5 [HSA:57468] [KO:K23967]
(DEE35) ITPA [HSA:3704] [KO:K01519]
(DEE36) ALG13 [HSA:79868] [KO:K07432]
(DEE37) FRRS1L [HSA:23732] [KO:K25381]
(DEE38) ARV1 [HSA:64801] [KO:K21848]
(DEE39) SLC25A12 [HSA:8604] [KO:K15105]
(DEE40) GUF1 [HSA:60558] [KO:K21594]
(DEE41) SLC1A2 [HSA:6506] [KO:K05613]
(DEE42) CACNA1A [HSA:773] [KO:K04344]
(DEE43) GABRB3 [HSA:2562] [KO:K05181]
(DEE44) UBA5 [HSA:79876] [KO:K12164]
(DEE45) GABRB1 [HSA:2560] [KO:K05181]
(DEE46) GRIN2D [HSA:2906] [KO:K05212]
(DEE47) FGF12 [HSA:2257] [KO:K22413]
(DEE48) AP3B2 [HSA:8120] [KO:K12397]
(DEE49) DENND5A [HSA:23258] [KO:K20164]
(DEE50) CAD [HSA:790] [KO:K11540]
(DEE51) MDH2 [HSA:4191] [KO:K00026]
(DEE52) SCN1B [HSA:6324] [KO:K04845]
(DEE53) SYNJ1 [HSA:8867] [KO:K20279]
(DEE54) HNRNPU [HSA:3192] [KO:K12888]
(DEE55) PIGP [HSA:51227] [KO:K03861]
(DEE56) YWHAG [HSA:7532] [KO:K16198]
(DEE57) KCNT2 [HSA:343450] [KO:K04947]
(DEE58) NTRK2 [HSA:4915] [KO:K04360]
(DEE59) GABBR2 [HSA:9568] [KO:K04615]
(DEE60) CNPY3 [HSA:10695] [KO:K22816]
(DEE61) ADAM22 [HSA:53616] [KO:K16068]
(DEE62) SCN3A [HSA:6328] [KO:K04836]
(DEE63) CPLX1 [HSA:10815] [KO:K15294]
(DEE64) RHOBTB2 [HSA:23221] [KO:K07868]
(DEE65) CYFIP2 [HSA:26999] [KO:K05749]
(DEE66) PACS2 [HSA:23241] [KO:K23294]
(DEE67) CUX2 [HSA:23316] [KO:K09313]
(DEE68) TRAK1 [HSA:22906] [KO:K15369]
(DEE69) CACNA1E [HSA:777] [KO:K04852]
(DEE70) PHACTR1 [HSA:221692] [KO:K17594]
(DEE71) GLS [HSA:2744] [KO:K01425]
(DEE72) NEUROD2 [HSA:4761] [KO:K09078]
(DEE73) RNF13 [HSA:11342] [KO:K15692]
(DEE74) GABRG2 [HSA:2566] [KO:K05186]
(DEE75) PARS2 [HSA:25973] [KO:K01881]
(DEE76) ACTL6B [HSA:51412] [KO:K11652]
(DEE77) PIGQ [HSA:9091] [KO:K03860]
(DEE78) GABRA2 [HSA:2555] [KO:K05175]
(DEE79) GABRA5 [HSA:2558] [KO:K05175]
(DEE80) PIGB [HSA:9488] [KO:K05286]
(DEE81) DMXL2 [HSA:23312] [KO:K24155]
(DEE82) GOT2 [HSA:2806] [KO:K14455]
(DEE83) UGP2 [HSA:7360] [KO:K00963]
(DEE84) UGDH [HSA:7358] [KO:K00012]
(DEE85) SMC1A [HSA:8243] [KO:K06636]
(DEE86) DALRD3 [HSA:55152] [KO:K24973]
(DEE87) CDK19 [HSA:23097] [KO:K02208]
(DEE88) MDH1 [HSA:4190] [KO:K00025]
(DEE89) GAD1 [HSA:2571] [KO:K01580]
(DEE90) FGF13 [HSA:2258] [KO:K22413]
(DEE91) PPP3CA [HSA:5530] [KO:K04348]
(DEE92) GABRB2 [HSA:2561] [KO:K05181]
(DEE93) ATP6V1A [HSA:523] [KO:K02145]
(DEE94) CHD2 [HSA:1106] [KO:K20091]
(DEE95) PIGS [HSA:94005] [KO:K05291]
(DEE96) NSF [HSA:4905] [KO:K06027]
(DEE97) CELF2 [HSA:10659] [KO:K13207]
(DEE98) ATP1A2 [HSA:477] [KO:K01539]
(DEE99) ATP1A3 [HSA:478] [KO:K01539]
(DEE100) FBXO28 [HSA:23219] [KO:K10306]
(DEE101) GRIN1 [HSA:2902] [KO:K05208]
(DEE102) SLC38A3 [HSA:10991] [KO:K13576]
(DEE103) KCNC2 [HSA:3747] [KO:K04888]
(DEE104) ATP6V0A1 [HSA:535] [KO:K02154]
(DEE105) HID1 [HSA:283987]
(DEE106) UFSP2 [HSA:55325] [KO:K01376]
(DEE107) NAPB [HSA:63908] [KO:K26120]
(DEE108) MAST3 [HSA:23031] [KO:K08789]
(DEE109) FZR1 [HSA:51343] [KO:K03364]
(DEE110) CACNA2D1 [HSA:781] [KO:K04858]
(DEE111) DEPDC5 [HSA:9681] [KO:K20404]
(DEE112) KCNH5 [HSA:27133] [KO:K04908]
(DEE113) SV2A [HSA:9900] [KO:K06258]
(DEE114) SLC32A1 [HSA:140679] [KO:K15015]
(DEE115) SNF8 [HSA:11267] [KO:K12188]
(DEE116) GLUL [HSA:2752] [KO:K01915]
H00608 46,XY disorder of sex development due to testosterone secretion defect ... structures. Several enzymatic defects that result in insufficient production of testosterone have been reported. And impaired differentiation of Leydig cell, which secretes testosterone, can lead to 46,XY ... Reproductive system disease LHCGR [HSA:3973] [KO:K04248]
HSD17B3 [HSA:3293] [KO:K10207]
SRD5A2 [HSA:6716] [KO:K12344]
H00612 Primary open angle glaucoma
Glaucoma 1 		... atrophy of the optic nerve, and visual field loss. To date, at least 20 genetic loci for POAG have been reported. And four causative genes (CYP1B1, MYOC, OPTN, and WDR36) are identified from these loci. In ... 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]
H00616 Bowen-Conradi syndrome ... complications associated with reduced mobility and failure to thrive. Recently, a missense mutation in EMG1 was reported to be the cause of BCS. EMG1 is a putative methyltransferase that is required for biogenesis ... Ribosomopathy EMG1 [HSA:10436] [KO:K14568]
H00622 Hypoparathyroidism-retardation-dysmorphism syndrome
Sanjad-Sakati syndrome 		Hypoparathyroidism-retardation-dysmorphism (HRD) syndrome is an autosomal recessively inherited condition reported in patients of Middle Eastern origin. It is characterized by permanent congenital hypocalcemia ... Congenital malformation TBCE [HSA:6905] [KO:K21768]
H00633 Duane retraction syndrome ... cranial motor neurons and their target, extraocular muscles. In DRS patients, absence of the abducens motor neurons and aberrant innervation of extraocular muscles by third cranial nerve have been reported. Nervous system disease (DURS2) CHN1 [HSA:1123] [KO:K20630]
(DURS3) MAFB [HSA:9935] [KO:K09036]
H00635 Aniridia ... a master regulatory gene that induces eye formation in a broad range of animals. Recently, it has been reported that aniridia is also caused by heterozygous mutations in the ELP4 gene and TRIM44 gene. Congenital malformation (AN1) PAX6 [HSA:5080] [KO:K08031]
(AN2) ELP4 [HSA:26610] [KO:K11375]
(AN3) TRIM44 [HSA:54765] [KO:K12020]
H00636 Tetra-amelia syndrome ... heart, nervous system, and urogenital system. Homozygous Wnt3 mutation is responsible for tetra-amelia. Recently, it has been reported that RSPO2 mutations cause tetra-amelia syndrome with lung aplasia. Congenital malformation (TETAMS1) WNT3 [HSA:7473] [KO:K00312]
(TETAMS2) RSPO2 [HSA:340419] [KO:K23097]
H00665 Mandibuloacral dysplasia ... in LMNA or ZMPSTE24 are responsible for the disorder. Recently, a novel MAD progeroid syndrome due to recessive mutations in MTX2 has been reported. MTX2 encodes an outer mitochondrial membrane protein. Congenital malformation (MADA) LMNA [HSA:4000] [KO:K12641]
(MADB) ZMPSTE24 [HSA:10269] [KO:K06013]
(MDPS) MTX2 [HSA:10651] [KO:K17776]
H00688 Familial advanced sleep phase syndrome ... time. FASPS is associated with mutations in PER2, whose level oscillates with a nearly 24 hour period. Recently, it has been reported that FASPS is also caused by mutations in CSNK1D gene and PER3 gene. Nervous system disease (FASPS1) PER2 [HSA:8864] [KO:K02633]
(FASPS2) CSNK1D [HSA:1453] [KO:K08959]
(FASPS3) PER3 [HSA:8863] [KO:K21945]
(FASPS4) TIMELESS [HSA:8914] [KO:K10997]
H00699 Central core disease ... and non-progressive; however, more severe forms including the fetal akinesia syndrome have also been reported associated with recessive or de novo dominant mutations. CCD typically presents in infancy with ... Nervous system disease; Musculoskeletal disease RYR1 [HSA:6261] [KO:K04961]
H00700 Centronuclear myopathy ... DNM2 gene; and an autosomal recessive (AR) form presenting severe and moderate phenotypes caused by mutations in the BIN1 gene. Recently, heterozygous MYF6 mutation is reported to be associated with CNM. Nervous system disease; Musculoskeletal disease (CNMX) MTM1 [HSA:4534] [KO:K01108]
(CNM1) DNM2 [HSA:1785] [KO:K23484]
(CNM2) BIN1 [HSA:274] [KO:K12562]
(CNM3) MYF6 [HSA:4618] [KO:K18485]
(CNM4) CCDC78 [HSA:124093] [KO:K23693]
(CNM5) SPEG [HSA:10290] [KO:K08809]
(CNM6) MAP3K20 [HSA:51776] [KO:K04424]
H00704 Oculopharyngeal muscular dystrophy ... morphologic evidence for neurogenic etiology, though the peripheral nervous system (PNS) seems to be affected in some rare cases. Recently, it has been reported that mutations in HNRNPA2B1 cause this disease. Nervous system disease; Musculoskeletal disease (OPMD1) PABPN1 [HSA:8106] [KO:K14396]
(OPMD2) HNRNPA2B1 [HSA:3181] [KO:K13158]
H00712 KID/HID syndrome ... and photophobia. KID/HID syndrome is an autosomal dominant trait but most cases are sporadic. Recently, autosomal recessive KID syndrome (KIDAR) has been reported. KIDAR is caused by mutations in AP1B1. Congenital malformation (KIDAD/HID) GJB2 [HSA:2706] [KO:K07621]
(KIDAR) AP1B1 [HSA:162] [KO:K12392]
H00713 Beckwith-Wiedemann syndrome ... In the telomeric ICR1, hypermethylation of the H19 promoter and loss of imprinting of IGF2 have been reported in a small fraction of patients with BWS. A few BWS cases could be related to NSD1 deletions ... Congenital malformation CDKN1C [HSA:1028] [KO:K09993]
IGF2 [HSA:3481] [KO:K13769]
KCNQ1 [HSA:3784] [KO:K04926]
H00718 Sotos syndrome ... is characterised by overgrowth, multiple congenital anomalies, and developmental delay. It has been reported that the majority of patients with typical Sotos and Weaver syndrome have intragenic mutations ... Congenital malformation (SOTOS1) NSD1 [HSA:64324] [KO:K15588]
(SOTOS2) NFIX [HSA:4784] [KO:K09171]
(SOTOS3) APC2 [HSA:10297] [KO:K02085]
H00730 Familial idiopathic ventricular fibrillation ... sudden cardiac death in individuals with an apparently normal heart. It has been found that a novel SCN5A missense mutation causes the disease. Recently, IVF linked to the DPP6 gene has been reported. Cardiovascular disease (IVF1) SCN5A [HSA:6331] [KO:K04838]
(IVF2) DPP6 [HSA:1804] [KO:K23013]
H00740 Ichthyosis follicularis, alopecia, and photophobia syndrome ... membrane-embedded zinc metalloprotease involved in endoplasmic reticulum stress response. Recently, it has been reported that mutations in SREBF1, encoding sterol regulatory element binding transcription factor 1, ... Congenital malformation (IFAP1) MBTPS2 [HSA:51360] [KO:K07765]
(IFAP2) SREBF1 [HSA:6720] [KO:K07197]
H00761 SEMD, Pakistani type
Brachyolmia type 4 		... limbs, mild brachydactyly, enlarged knee joints, and early-onset osteoarthropathy. Radiographs show delayed epiphyseal ossification in hips and knees. Nonsense mutation in ATPSK2/PAPSS2 has been reported. Congenital malformation PAPSS2 [HSA:9060] [KO:K13811]
H00779 Usher syndrome ... USH shows significant genetic heterogeneity, and at least 11 distinct loci have been identified and genes for 9 of them have been cloned. Recently, USH4 caused by mutations in ARSG has been reported. Nervous system disease (USH1B) MYO7A [HSA:4647] [KO:K10359]
(USH1C) USH1C [HSA:10083] [KO:K21877]
(USH1D/1DF) CDH23, USH1D [HSA:64072] [KO:K06813]
(USH1F/1DF) PCDH15 [HSA:65217] [KO:K16500]
(USH1G) USH1G [HSA:124590] [KO:K21878]
(USH1J) CIB2 [HSA:10518] [KO:K23837]
(USH1M) ESPN [HSA:83715] [KO:K24047]
(USH2A) USH2A [HSA:7399] [KO:K19636]
(USH2A/2C) PDZD7 [HSA:79955] [KO:K21882]
(USH2B/2C) GPR98 [HSA:84059] [KO:K18263]
(USH2D) WHRN [HSA:25861] [KO:K21879]
(USH3A) CLRN1 [HSA:7401] [KO:K23841]
(USH3B) HARS [HSA:3035] [KO:K01892]
(USH4) ARSG [HSA:22901] [KO:K12381]
H00793 Poikiloderma with neutropenia ... the trunk and the face, evolving into poikiloderma. Patients with this disease have recurrent bacterial infections and chronic neutropenia. It has been reported mutations in USB1 cause this condition. Skin disease USB1 [HSA:79650] [KO:K23093]
H00795 Seborrhea-like dermatitis with psoriasiform element ... Enhanced keratinocyte proliferation and dermal infiltration of inflammatory cells are observed in the disease. Mutations in ZNF750, which encodes a putative C2H2 zinc finger protein, have been reported. Immune system disease; Skin disease ZNF750 [HSA:79755] [KO:K24377]
H00798 Familial carpal tunnel syndrome ... The cause of the disease is the compression of the median nerve by thickened transverse carpal ligament. Mutations in transthyretin, a gene that plays a role in deposition of amyloid, have been reported. Nervous system disease (CTS1) TTR [HSA:7276] [KO:K20731]
(CTS2) COMP [HSA:1311] [KO:K04659]
H00807 Nocturnal frontal lobe epilepsy ... which encodes the alpha4-, beta2-, and alpha2-subunit of neuronal nicotinic acetylcholine receptor, have been reported. These mutations are concentrated in the pore-forming M2 transmembrane segments. Nervous system disease (ENFL1) CHRNA4 [HSA:1137] [KO:K04806]
(ENFL3) CHRNB2 [HSA:1141] [KO:K04813]
(ENFL4) CHRNA2 [HSA:1135] [KO:K04804]
(ENFL5) KCNT1 [HSA:57582] [KO:K04946]
H00809 Familial epilepsy temporal lobe (ETL) ... lateral temporal lobe cortex. Mutations in the leucine-rich glioma-inactivated 1 (LGI1) gene have been reported in up to 50% of ADTLE/ADPEAF pedigrees. In addition, de novo LGI1 mutations are found in about ... Nervous system disease (ETL1) LGI1 [HSA:9211] [KO:K25428]
(ETL5) CPA6 [HSA:57094] [KO:K08782]
(ETL7) RELN [HSA:5649] [KO:K06249]
(ETL8) GAL [HSA:51083] [KO:K05244]
H00812 Trichomoniasis ... symptoms, ranging from a relatively asymptomatic state in one-third of cases to severe irritation and inflammation. Several complications associated with adverse pregnancy outcomes have been reported. Parasitic infectious disease
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