Epilepsy

Disease Term Disease ID Gene Symbol References
Epilepsy C0014544 ACTG1 8941379
ADRA2A 17341653
AKT1 20064661
ALB 15356194, 17121744
AMPD2
ASTN1 26539891
ATP1A2 30690204
ATP1A3
BBS1
BDNF 15282290
CACNB4 9442082, 10762541, 27959697, 24875574, 18755274, 9039265
CHD2 29942082, 23708187
CHRM1 18333967
CHRM2 18333967
CHRM3 22949513
DDX3X 29942082
DIAPH1
DNM1 29942082
DYRK1A 29942082
EEF1A2 29942082
EIF2S3 28055140
EPHB1 26220383
ERN1 19558813
FGFR3 18000976
FOXG1 29942082
FLNA 11914408
FOLR1 19732866
FOS 15973680
FOSB 16391389
GABRB2 29942082
GABRB3 15878204, 29942082
GABRG2 27066572, 27864268, 31004928, 23408872, 27340224, 28460589, 11326274, 12117362
GFAP 21177194
GLUD1 11214910
GNAO1 29942082
GPX1 19499324
GRIN2A 23933818, 20890276
GRIN2B 16407536, 29942082
GRM1 19853022
HNRNPU 29942082
ILK 20064661
KCND2 29581270
KCNH1 29942082, 25420144
KCNQ2 29942082, 16464983
MECP2 29942082
MEF2C 29942082, 20412115
COX3 28027978
MTR
NPY 8868293, 20064661
NPY2R 8868293
OPRD1 2415332
OPRM1 2415332
P2RX4 12941474
ABCB1 8001500, 19570321
PIGH 29573052
POLG 18716558
POMC 20708863
PTPRD 23962720
PURA 29942082
PEX5 26220973
SCN1A 19694741, 23708187, 15805193, 25087078, 30531953, 29942082
SCN2A 29942082, 16464983, 23708187, 20956790
SCN8A 23708187, 29942082, 26677014
SCN9A 29500686, 23895530, 19763161, 27504264, 15314237, 28704742
SELENOW 19499324
SLC1A1 12151515
SLC1A2 19853022
SLC1A3 19853022
SLC2A1
SLC6A1 29942082
SLC12A2 18550034
SNAP25 29942082
CDKL5 29942082
STXBP1 29942082
TGFB1 29483653
TSC1 12112044, 21062901
TSC2 21062901
TSHR
TXNRD1 19499324
UBE3A 15878204
SLC35A2 30746764
VDAC1 17893921
VDAC2 17893921
KDM5C 18697827, 26919706
SMC1A 29942082
SPARCL1 18488994
KCNAB2 11580756
MATN4
SYNGAP1 23708187, 29942082
SLC5A6 27904971
PIGQ 31148362
CACNA2D2 15331424
UBE4A
HDAC9 26220383
SETD1A 31197650
SEC24D
CERT1 29942082
ARFGEF2
STAMBP 23542699
WDR45 29942082
WDR37
P2RX2 12941474
IQSEC2 29942082
CAMSAP2 22116939
COTL1 26220383
PTPN23
CNTNAP2 20502679, 21962519
AUTS2 20502679
TANC2 31616000
KCNH5 23647072
ANKRD11 29942082
ZDHHC9 29681091
PCDH12 29556033, 27164683, 18477666, 30459466
OTUD6B
INO80
KMT2E
PCDHB4
OLFML3 30868120
RARS2 20635367
CPA6
SLC4A10 18165320
SLC12A5 12000122, 18550034
ARID1B 29942082
PCDH19 18469813, 19214208, 21480887
CRAMP1 26220383
ALG13 29942082
L2HGDH 15385440
ASXL3 29942082
LMAN2L 26566883
BCO2 30868120
EIF2A 31130284
TBCK
PRRT2 23126439
TUBA3E
STX1B 25362483
C12orf57
RAB39B 20159109
TSEN15
EARS2 22492562
DMBX1
SYT2 26220383
CEP128
ZDHHC24
SLC13A5
IQCM 22949513
NEXMIF 29942082
KCNT2 29740868
HCN1 12890777
MAST4 22949513
AGMO 27000257, 31555905
C9orf92 26220383
LINC00558 26220383
LINC02109 26220383
SCN1A-AS1 25087078, 30531953
Epilepsies, Partial C0014547 ADCY9 20522523
FGFR3 18000976
MECP2
NID1
SCN1A 30531953, 25087078
SCN2A
SCN3A 24157691
SCN8A
SNAP25
SPTAN1
CDKL5
SLC33A1 30531953
KCNT1 23086397
SNAP25-AS1
SCN1A-AS1 30531953, 25087078
Epilepsy, Cryptogenic C0086237 ADRA2A 17341653
AKT1 20064661
ALB 17121744, 15356194
BDNF 15282290
CHD2 29942082, 23708187
CHRM1 18333967
CHRM2 18333967
DDX3X 29942082
DNM1 29942082
DYRK1A 29942082
EEF1A2 29942082
ERN1 19558813
FOXG1 29942082
FLNA 11914408
FOLR1 19732866
FOS 15973680
FOSB 16391389
GABRB2 29942082
GABRB3 15878204, 29942082
GFAP 21177194
GNAO1 29942082
GPX1 19499324
GRIN2A 20890276, 23933818
GRIN2B 29942082, 16407536
GRM1 19853022
HNRNPU 29942082
ILK 20064661
KCNH1 29942082, 25420144
KCNQ2 16464983, 29942082
MECP2 29942082
MEF2C 29942082, 20412115
NPY 8868293, 20064661
NPY2R 8868293
OPRD1 2415332
OPRM1 2415332
P2RX4 12941474
ABCB1 8001500, 19570321
POLG 18716558
POMC 20708863
PURA 29942082
SCN1A 15805193, 29942082, 19694741, 23708187
SCN2A 23708187, 16464983, 29942082
SCN8A 29942082, 23708187
SELENOW 19499324
SLC1A1 12151515
SLC1A2 19853022
SLC1A3 19853022
SLC6A1 29942082
SLC12A2 18550034
SNAP25 29942082
CDKL5 29942082
STXBP1 29942082
TGFB1 29483653
TSC1 21062901, 12112044
TSC2 21062901
TXNRD1 19499324
UBE3A 15878204
VDAC1 17893921
VDAC2 17893921
SMC1A 29942082
SPARCL1 18488994
KCNAB2 11580756
SYNGAP1 23708187, 29942082
CERT1 29942082
STAMBP 23542699
WDR45 29942082
P2RX2 12941474
IQSEC2 29942082
CNTNAP2 21962519, 20502679
AUTS2 20502679
ANKRD11 29942082
SLC4A10 18165320
SLC12A5 12000122, 18550034
ARID1B 29942082
PCDH19 18469813
ALG13 29942082
L2HGDH 15385440
ASXL3 29942082
STX1B 25362483
RAB39B 20159109
NEXMIF 29942082
HCN1 12890777
Awakening Epilepsy C0751111 ADRA2A 17341653
AKT1 20064661
ALB 15356194, 17121744
BDNF 15282290
CHD2 23708187, 29942082
CHRM1 18333967
CHRM2 18333967
DDX3X 29942082
DNM1 29942082
DYRK1A 29942082
EEF1A2 29942082
ERN1 19558813
FOXG1 29942082
FLNA 11914408
FOLR1 19732866
FOS 15973680
FOSB 16391389
GABRB2 29942082
GABRB3 15878204, 29942082
GFAP 21177194
GNAO1 29942082
GPX1 19499324
GRIN2A 23933818, 20890276
GRIN2B 16407536, 29942082
GRM1 19853022
HNRNPU 29942082
ILK 20064661
KCNH1 25420144, 29942082
KCNQ2 29942082, 16464983
MECP2 29942082
MEF2C 20412115, 29942082
NPY 8868293, 20064661
NPY2R 8868293
OPRD1 2415332
OPRM1 2415332
P2RX4 12941474
ABCB1 8001500, 19570321
POLG 18716558
POMC 20708863
PURA 29942082
SCN1A 19694741, 23708187, 29942082, 15805193
SCN2A 29942082, 16464983, 23708187
SCN8A 29942082, 23708187
SELENOW 19499324
SLC1A1 12151515
SLC1A2 19853022
SLC1A3 19853022
SLC6A1 29942082
SLC12A2 18550034
SNAP25 29942082
CDKL5 29942082
STXBP1 29942082
TGFB1 29483653
TSC1 21062901, 12112044
TSC2 21062901
TXNRD1 19499324
UBE3A 15878204
VDAC1 17893921
VDAC2 17893921
SMC1A 29942082
SPARCL1 18488994
KCNAB2 11580756
SYNGAP1 29942082, 23708187
CERT1 29942082
STAMBP 23542699
WDR45 29942082
P2RX2 12941474
IQSEC2 29942082
CNTNAP2 21962519, 20502679
AUTS2 20502679
ANKRD11 29942082
SLC4A10 18165320
SLC12A5 18550034, 12000122
ARID1B 29942082
PCDH19 18469813
ALG13 29942082
L2HGDH 15385440
ASXL3 29942082
STX1B 25362483
RAB39B 20159109
NEXMIF 29942082
HCN1 12890777
Epilepsy, Generalized C0014548 ASAH1
CACNB4 10762541
CHRNA7 19136953
GABRA2 30531953
GLDC 10873393
MMP8 25087078
PCDH7 30531953, 25087078
POLG 18546365, 12707443
PTPRK 30531953
SCN1A 21480876, 30531953
JRK 11463517
CACNA1H 10648900, 17696120, 29468672, 19144837, 9930755, 15852375
DDHD2 23176823, 24337409, 25417924, 24517879
CDK5RAP3 30531953
CLPB 25597511
KLHL29 30531953
SCN1A-AS1 30531953
Epilepsy, Rolandic C0376532 ASAH1 29358611
SCARB2 29358611
CHD2 29358611
CSTB 29358611
GABRG2 25726841
GRIN1 29358611
GRIN2A 23933819
KCNQ3 29358611
RELN 29358611
SCN1A 29358611
SCN1B 29358611
SCN2A 29358611
SCN9A 29358611
SLC2A1 29358611
SLC6A1 29358611
SPTAN1 29358611
EPM2A 29358611
DEPDC5 29358611
PLCB1 29358611
SZT2 29358611
CNTNAP2 29358611
SRPX2
IER3IP1 29358611
RBFOX1 29358611
CPA6 29358611
TBC1D24 29358611
PCDH19 29358611
KCNT1 29358611
SNIP1 29358611
STRADA 29358611
RBFOX3 29358611
PRICKLE2 29358611
SCN1A-AS1 29358611
LOC102724428 29358611
EPILEPSY, PYRIDOXINE-DEPENDENT C1849508 ALDH7A1 17068770, 20554659, 24122892, 18717709, 22529283, 26232297, 23430810, 17721876, 22784480, 28087462, 22371912, 27604308, 16491085, 19128417, 26101365, 20370816, 23054014, 23022070, 29061647, 27438048, 26224730, 20814824, 29053735, 23350806
PLPBP 27912044
SLC13A5 27912044
Epilepsy, Tonic-Clonic, Familial C0751118 BCHE 15121994
BDNF 16023256
CYP2D6 16835697
HBEGF 16023256
FGF2 16023256
NGF 16023256
NTF3 16023256
OXT 6407273, 4988877
POMC 4371370
NES 16137769
Epilepsy, Tonic-Clonic, Symptomatic C0751119 BCHE 15121994
BDNF 16023256
CYP2D6 16835697
HBEGF 16023256
FGF2 16023256
NGF 16023256
NTF3 16023256
OXT 6407273, 4988877
POMC 4371370
NES 16137769
Epilepsy, Temporal Lobe C0014556 BDKRB1 15196965
BDKRB2 15196965
CNR1 20498848
GRM1 15694259
GRM2 18804094
GRM3 18804094
GRM4 15694259
GRM5 15694259
KCNC4 20971086
KDR 17533168
COX3 17092649
NPY 15716408
NPY2R 15716408
P2RX4 19084381
P2RX7 12121326, 19084381
SLC1A1 11906504
SLC12A2 19674083
TEK 17533168
VDR 18534255
VEGFA 17533168
TRPV1 20144892
SLIT2 20153733
SLC12A5 19674083
Uncinate Epilepsy C0014558 BDKRB1 15196965
BDKRB2 15196965
CNR1 20498848
GRM1 15694259
GRM2 18804094
GRM3 18804094
GRM4 15694259
GRM5 15694259
KCNC4 20971086
KDR 17533168
COX3 17092649
NPY 15716408
NPY2R 15716408
P2RX4 19084381
P2RX7 19084381, 12121326
SLC1A1 11906504
SLC12A2 19674083
TEK 17533168
VDR 18534255
VEGFA 17533168
TRPV1 20144892
SLIT2 20153733
SLC12A5 19674083
Epilepsy, Benign Psychomotor, Childhood C0393672 BDKRB1 15196965
BDKRB2 15196965
CNR1 20498848
GRM1 15694259
GRM2 18804094
GRM3 18804094
GRM4 15694259
GRM5 15694259
KCNC4 20971086
KDR 17533168
COX3 17092649
NPY 15716408
NPY2R 15716408
P2RX4 19084381
P2RX7 19084381, 12121326
SLC1A1 11906504
SLC12A2 19674083
TEK 17533168
VDR 18534255
VEGFA 17533168
TRPV1 20144892
SLIT2 20153733
SLC12A5 19674083
Epilepsy, Lateral Temporal C0393682 BDKRB1 15196965
BDKRB2 15196965
CNR1 20498848
GRM1 15694259
GRM2 18804094
GRM3 18804094
GRM4 15694259
GRM5 15694259
KCNC4 20971086
KDR 17533168
COX3 17092649
NPY 15716408
NPY2R 15716408
P2RX4 19084381
P2RX7 12121326, 19084381
SLC1A1 11906504
SLC12A2 19674083
TEK 17533168
VDR 18534255
VEGFA 17533168
TRPV1 20144892
SLIT2 20153733
SLC12A5 19674083
Epilepsy, Absence, Atypical C0751124 CACNA1A 17196942
GABRB3 18514161
JRK 11463517
CACNA1H
CACNA2D2 14660671
KCNK9 15781965
EFHC1
Epilepsy, Minor C4552765 CACNA1A 17196942
GABRB3 18514161
JRK 11463517
CACNA1H
CACNA2D2 14660671
KCNK9 15781965
EFHC1
Epilepsy, Atonic C0086236 CACNB4 10762541
CHRNA7 19136953
SCN1A 21480876
JRK 11463517
Epilepsy, Tonic C0086241 CACNB4 10762541
CHRNA7 19136953
SCN1A 21480876
JRK 11463517
Idiopathic generalized epilepsy C0270850 CACNB4
CASR
CLCN2
GABRA1 27353043, 27521439, 24623842, 26918889
GABRD
SCN1A
SLC2A1 27725288, 18577546
SLC12A5
SCN1A-AS1
Symptomatic Generalized Epilepsy C0270854 CACNB4 10762541
CHRNA7 19136953
SCN1A 21480876
JRK 11463517
Epilepsy, Akinetic C0347869 CACNB4 10762541
CHRNA7 19136953
SCN1A 21480876
JRK 11463517
Impulsive Petit Mal Epilepsy C4553298 CACNB4 10762541
GABRA1
JRK 11463517
EFHC1
Epilepsy, Nocturnal Frontal Lobe, Type 4 C1835905 CHRNA2 16826524, 25847220
CHRNA4
CHRNB2
Epilepsy, Frontal Lobe C0085541 CHRNA4 14996991, 12823585, 17881519
CHRNB2 14996991
SLC4A10 18413482
KCNT1 23086396
Frontal Epilepsy, Benign, Childhood C0393671 CHRNA4 12823585, 14996991, 17881519
CHRNB2 14996991
SLC4A10 18413482
KCNT1 23086396
Epilepsy, Supplementary Motor C0393683 CHRNA4 14996991, 17881519, 12823585
CHRNB2 14996991
SLC4A10 18413482
KCNT1 23086396
Epilepsy, Cingulate C0393684 CHRNA4 17881519, 14996991, 12823585
CHRNB2 14996991
SLC4A10 18413482
KCNT1 23086396
Epilepsy, Opercular C0393688 CHRNA4 14996991, 12823585, 17881519
CHRNB2 14996991
SLC4A10 18413482
KCNT1 23086396
Epilepsy, Anterior Fronto-Polar C0751642 CHRNA4 12823585, 17881519, 14996991
CHRNB2 14996991
SLC4A10 18413482
KCNT1 23086396
Epilepsy, Orbito-Frontal C0751643 CHRNA4 17881519, 12823585, 14996991
CHRNB2 14996991
SLC4A10 18413482
KCNT1 23086396
Epilepsy, Nocturnal Frontal Lobe, Type 1 C1838049 CHRNA4 7647781, 14623738, 7550350, 10563623
Epilepsy, Nocturnal Frontal Lobe, Type 3 C1854335 CHRNA4
CHRNB2 11094099, 11062464, 11104662
EPILEPSY, CHILDHOOD ABSENCE, 1 C1838604 GABRA1 16718694
GABRB3 28544625, 18514161, 28053010
GABRG2
SLC2A1 19798636, 23280796
JRK 11463517
CACNA1H 12891677
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2 C1843244 GABRG2 15342642, 11326274, 28460589, 11326275, 23708187
Gelastic Epilepsy C0270820 GLI3
MTHFS
PHGDH
PACS1
NGLY1
KCNT1 23086397
ST20-MTHFS
EPILEPSY, BENIGN NEONATAL, 2 C1852581 KCNQ2 18625963, 19464834, 12742592, 15249611, 17129708
KCNQ3 9425900, 9872318, 14534157, 10852552, 25982755
Epilepsy, Complex Partial C0085417 MECP2
SCN3A 18242854
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 2 C4310709 NPR2
NPRL2 30093711, 26505888, 27173016
SPAG8
EPILEPSY, FAMILIAL TEMPORAL LOBE, 7 C4225327 RELN 26046367
Epilepsy, Familial Temporal Lobe 1 C4551957 RELN
LGI1 11978770, 26773249, 18711109, 17562837, 24206907, 11810107, 15079010, 15349881, 17067999, 12771268, 22496201, 17296837, 19552651, 14510822, 12205652, 12601709, 18625862, 15857855, 15079011
MICAL1
Epilepsy, Symptomatic, Partial Complex C0751641 SCN3A 18242854
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 4 C4693694 SCN3A 28235671, 24157691
Immersion Related Epilepsy C0393729 SLC1A1 28324217
EPILEPSY, HOT WATER, 1 C4551550 SLC1A1 28324217
Epilepsy, Partial, Motor C0016399 SMS
ATXN10
EPILEPSY, NOCTURNAL FRONTAL LOBE, 5 C3554306 SPAG1
KCNT1 26740507, 26369628, 23086396, 27029629, 26122718, 25590979, 26993267, 26269628, 24591078, 25326637, 25482562, 26648591, 29100083, 26597493, 27652284, 23086397, 24029078, 29186148, 26140313
Epilepsy, Partial, with Variable Foci C1858477 NPRL3 26505888, 27173016
DEPDC5 28102150, 28199897, 23542701, 23542697, 29481864, 26505888, 26000329, 24283814, 24814846, 29950950, 29708509, 27066554, 29761115, 26704558, 29861134, 24585383
NPRL2 26505888, 27173016
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 3 C4310708 NPRL3 27173016, 26285051, 26505888
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 C4551983 DEPDC5 23542697, 25366275, 26000329, 24591017, 23542701, 27066554, 26216793, 26505888, 24585383, 24283814, 25599672, 24814846, 25623524, 27066544, 27066565, 27159400, 27173016, 26704558, 10577924
EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT C4310632 PLPBP 27912044
EPILEPSY, FAMILIAL TEMPORAL LOBE, 8 C4225318 GAL 25691535
EPILEPSY, FAMILIAL TEMPORAL LOBE, 5 C3280730 CPA6 21922598, 23105115
Epilepsy, Simple Partial C0086240 KCNT1 23086397
Benign familial neonatal epilepsy 1949 KCNQ2
KCNQ3
Benign familial infantile epilepsy 306 SCN8A
SCN2A
KCNQ2
KCNQ3
PRRT2
Familial focal epilepsy with variable foci 98820 DEPDC5
NPRL2
NPRL3