General Information of Disease (ID: DIS372XH)

Disease Name Neurodevelopmental disorder
Definition A behavioral and cognitive disorder with onset during the developmental period that involves impaired or aberrant development of intellectual, motor, or social functions.
Disease Hierarchy
DISCFBRD: Neurological disorder
DIS372XH: Neurodevelopmental disorder
Disease Identifiers
MONDO ID
MONDO_0700092
MESH ID
D065886
UMLS CUI
C1535926
MedGen ID
453059
SNOMED CT ID
700364009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 79 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
ADGRL3 TTQST3U Limited Biomarker [1]
CACNA1D TT7RGTM Limited Genetic Variation [2]
EIF4EBP2 TTNBTCW Limited Altered Expression [3]
GABRA1 TT1MPAY Limited Genetic Variation [4]
GABRG2 TT06RH5 Limited Genetic Variation [4]
GRIN2B TTN9D8E Limited Genetic Variation [4]
GRM2 TTXJ47W Limited Biomarker [5]
KCNQ3 TTIVDM3 Limited Genetic Variation [6]
PPP2CA TTHTKNY Limited Genetic Variation [7]
PPP3CA TTA4LDE Limited Biomarker [8]
RAC3 TT9BQ50 Limited Genetic Variation [9]
SCN3A TTAXZ0K Limited Genetic Variation [10]
UBE3A TTUZX6V Limited Biomarker [11]
BRSK2 TTHZN4X moderate Genetic Variation [12]
CACNA1E TTYRP0M moderate Biomarker [13]
CHRNA7 TTLA931 moderate Biomarker [14]
DAGLA TTRQ6UD moderate Biomarker [15]
ENPEP TT9PBIL moderate Biomarker [16]
FBXO11 TT6G10V moderate Biomarker [17]
GABRG3 TTEX6LM moderate Biomarker [18]
OXTR TTSCIUP moderate Genetic Variation [19]
PAK1 TTFN95D moderate Biomarker [20]
PDE10A TTJW4LU moderate Genetic Variation [21]
PNKP TTHR3IE moderate Genetic Variation [22]
RORB TTGB2LZ moderate Genetic Variation [23]
SERPINH1 TTPSWQG moderate Biomarker [24]
SLC12A5 TTH6UZY moderate Altered Expression [25]
TPH2 TT3KLDP moderate Biomarker [26]
BCL11A TTR61MW Strong Biomarker [27]
CACNA1A TTX4QDJ Strong Biomarker [28]
CACNA1C TTZIFHC Strong Genetic Variation [29]
DHPS TTBO2A9 Strong Genetic Variation [30]
DLG4 TT9PB26 Strong Biomarker [31]
DNM1 TTE3JW9 Strong Biomarker [13]
DYRK1A TTSBVFO Strong Genetic Variation [32]
EIF5A TTIVCNR Strong Genetic Variation [30]
FOXP1 TT0MUCI Strong Biomarker [33]
GABRB2 TTZA1NY Strong Genetic Variation [13]
GNAO1 TTAXD8Z Strong Biomarker [13]
GREM1 TTOUZN5 Strong Biomarker [34]
GRIA2 TTWM461 Strong Genetic Variation [35]
GRIA4 TTPJR0G Strong Genetic Variation [36]
GRIK2 TT0K5RG Strong Genetic Variation [37]
GRIN2A TTKJEMQ Strong Biomarker [38]
GRM5 TTHS256 Strong Biomarker [39]
GRM7 TT0I76D Strong Biomarker [40]
HTR7 TTO9X1H Strong Biomarker [41]
HTT TTIWZ0O Strong Genetic Variation [42]
KAT6A TT6O1J0 Strong Genetic Variation [43]
KCNA2 TTVFB0O Strong Biomarker [44]
KCNB1 TT5OEKU Strong Biomarker [45]
KCNH1 TT9XKUC Strong Biomarker [13]
KCNQ2 TTPXI3S Strong Genetic Variation [6]
KDM5B TTCLI75 Strong Altered Expression [46]
KDM5C TT94UCF Strong Altered Expression [47]
L1CAM TTC9D3K Strong Genetic Variation [48]
PHF8 TT81PFE Strong Altered Expression [47]
PPM1D TTENJAB Strong Biomarker [33]
PTEN TTXJ3W7 Strong Genetic Variation [49]
SCN1A TTANOZH Strong Genetic Variation [50]
SCN2A TTLJTUF Strong Genetic Variation [51]
SCN8A TT54ERL Strong Biomarker [13]
SLC6A1 TTPRKM0 Strong Biomarker [13]
SNAP25 TTYQWA0 Strong Biomarker [13]
SOX5 TTXHSZK Strong Genetic Variation [52]
TAOK1 TTQY9DH Strong Biomarker [53]
TRIP12 TTG2CRH Strong Biomarker [33]
USP7 TTXU3EQ Strong Genetic Variation [54]
ADCY5 TTN64VU Definitive Biomarker [33]
CACNA2D3 TTN7T29 Definitive Biomarker [33]
CUL3 TTPCU0Q Definitive Biomarker [33]
ITPR1 TT5HWAT Definitive Biomarker [33]
KMT2A TT1GNDM Definitive Biomarker [33]
KMT5B TTJGV7F Definitive Biomarker [33]
PAX5 TTA4REJ Definitive Biomarker [33]
PTK7 TTXH2ZN Definitive Biomarker [33]
PTPN11 TT7WUAV Definitive Biomarker [33]
SETD2 TTPC3H4 Definitive Biomarker [33]
TBL1XR1 TTYXT16 Definitive Biomarker [33]
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⏷ Show the Full List of 79 DTT(s)
This Disease Is Related to 2 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC1A4 DTC54PX Strong Genetic Variation [55]
SLC35A2 DT0567K Strong Genetic Variation [42]
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This Disease Is Related to 4 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
ASNS DEXISVQ Limited Biomarker [56]
DIO3 DET89OV Limited Biomarker [57]
VARS1 DEUPF5K Limited Biomarker [58]
WARS2 DEPTKBQ Limited Genetic Variation [59]
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This Disease Is Related to 259 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
AGMO OTGMAHAT Limited Genetic Variation [60]
ALDH1L1 OT15HOJX Limited Altered Expression [61]
AMBRA1 OTY0YGT9 Limited Altered Expression [62]
AP1S2 OTZHJFYI Limited Genetic Variation [63]
CALB2 OTSNMCG9 Limited Biomarker [64]
CCDC88C OTIU02BS Limited Biomarker [65]
CHD4 OTBDEHDP Limited Biomarker [66]
CNOT3 OT4D5Z9L Limited Genetic Variation [67]
COL9A3 OTCUJOEK Limited Biomarker [68]
CPQ OTTNZNLD Limited Biomarker [69]
CUX2 OTDJTQAJ Limited Biomarker [70]
DARS1 OT0WGC2T Limited Biomarker [71]
DARS2 OTVPFTBG Limited Biomarker [71]
DGCR2 OTEGL17Z Limited Biomarker [68]
DLGAP4 OTNELLIN Limited Biomarker [72]
DMXL2 OTB4JWN3 Limited Biomarker [73]
DOCK3 OTF3YS2W Limited Genetic Variation [74]
DPH1 OT0QU3JY Limited Genetic Variation [75]
DPYSL5 OT6F9T6F Limited Altered Expression [61]
EEF1B2 OTW64NPU Limited Biomarker [58]
EEF1D OTM5ZD8Y Limited Biomarker [58]
EIF4A1 OTMTBX6N Limited Biomarker [76]
EXOSC3 OTNCF906 Limited Genetic Variation [77]
FBLIM1 OTFHXMON Limited Biomarker [78]
FEM1B OTFE2ELA Limited Biomarker [79]
FMN2 OTUY7BSV Limited Biomarker [80]
GNAI2 OTTLGRGH Limited Biomarker [79]
GNB5 OT3ZSAXH Limited Genetic Variation [81]
GNPAT OTF6LWPO Limited Biomarker [82]
GTPBP2 OTOJ1KUA Limited Biomarker [83]
GUK1 OTLI0HRU Limited Biomarker [84]
H2AZ1 OT3KJJNQ Limited Genetic Variation [85]
IMMP2L OT9WGAFD Limited Biomarker [86]
INTS1 OT7TY1M1 Limited Genetic Variation [87]
KANK1 OT2E7A6W Limited Genetic Variation [88]
KCTD13 OTSKZ1KM Limited Biomarker [89]
KIF21A OT511XD9 Limited Biomarker [90]
LHX2 OTK61NP8 Limited Biomarker [70]
LMX1B OTM8145D Limited Biomarker [91]
MACROD2 OTNQCHC6 Limited Biomarker [92]
MEF2A OTV2SF6E Limited Biomarker [93]
MEF2C OTZGF1Y5 Limited Altered Expression [94]
MEPCE OTRBQEYP Limited Genetic Variation [95]
NAA15 OT53SIZG Limited Biomarker [96]
NAXE OTRZPISQ Limited Biomarker [97]
NFASC OTBDUXZT Limited Genetic Variation [98]
NFIC OTLMCUIB Limited Biomarker [99]
NLGN3 OTKDEC1Q Limited Biomarker [100]
NPAS3 OT8D1ILB Limited Altered Expression [101]
PCDH19 OTSOW3MV Limited Genetic Variation [4]
PHF6 OT8DXI40 Limited Biomarker [102]
POGZ OT4CYWC1 Limited Biomarker [103]
PRR12 OTY2ILFT Limited Biomarker [104]
PRUNE1 OTQ3UHWQ Limited Genetic Variation [105]
PSD OTUZIXUZ Limited Biomarker [106]
PTPN4 OT6SXU5Y Limited Biomarker [107]
RARS1 OTHPZ6JN Limited Biomarker [71]
RARS2 OT3WLAD8 Limited Biomarker [71]
SCAMP5 OT9MXA2J Limited Biomarker [108]
SMARCA5 OT5GR4Z2 Limited Biomarker [109]
SOX3 OT1CRCOB Limited Genetic Variation [110]
SRPX2 OT6A63TX Limited Biomarker [111]
ST3GAL3 OTOORKUE Limited Genetic Variation [112]
TAF1 OTDYS5G4 Limited Genetic Variation [113]
TANC1 OTF6TZ8E Limited Biomarker [114]
TAOK2 OTNUMOZ1 Limited Biomarker [115]
TBC1D24 OTKZUSMD Limited Biomarker [116]
TLK1 OTICTXI8 Limited Altered Expression [117]
TMEM94 OTT4ZSUA Limited Biomarker [118]
TNPO3 OTOT3HH0 Limited Biomarker [119]
TOP3B OTNFEUOO Limited Biomarker [120]
TSPYL2 OTGGW2EF Limited Genetic Variation [121]
AFF3 OTR0705Z moderate Biomarker [122]
AP4M1 OT2BG2Z3 moderate Genetic Variation [123]
APH1B OTQHPTGC moderate Biomarker [124]
ARHGEF9 OTB1FLIW moderate Genetic Variation [125]
ASTN2 OTF0W2FJ moderate Altered Expression [126]
ATL1 OTR2788Y moderate Genetic Variation [127]
BRINP1 OTEUVSCP moderate Genetic Variation [128]
CAPS2 OT45M743 moderate Biomarker [129]
CC2D1A OTVPU04K moderate Genetic Variation [130]
CDYL OTCUK5KZ moderate Biomarker [131]
CHD8 OTS7A6AF moderate Genetic Variation [132]
CNTNAP1 OT5Y03EU moderate Genetic Variation [133]
CPA6 OT43RD23 moderate Biomarker [134]
DHX30 OT7W9CEZ moderate Biomarker [135]
DIAPH1 OTZBYPLH moderate Genetic Variation [136]
EIF3A OTFABY9G moderate Biomarker [137]
ELP4 OTP5GZ9V moderate Genetic Variation [138]
EN2 OT7EZCM2 moderate Genetic Variation [139]
EPG5 OT3P5HQD moderate Biomarker [140]
FAM124B OTL2A8O8 moderate Biomarker [141]
FZD9 OTTZ9MKK moderate Genetic Variation [142]
GDI1 OTYM3928 moderate Biomarker [143]
GIT1 OTHO92S5 moderate Biomarker [144]
GTDC1 OT8OBXKK moderate Biomarker [145]
GTF2IRD1 OTEG9KU1 moderate Biomarker [146]
HCFC1 OT0UCK62 moderate Biomarker [147]
HMGN1 OTSMGH99 moderate Biomarker [148]
KIF5C OT35570Y moderate Genetic Variation [149]
KLF16 OTTPV4NB moderate Genetic Variation [150]
LAMB1 OT6J9LJR moderate Altered Expression [151]
LRRC4C OT5QI5EP moderate Biomarker [152]
LRRTM1 OTKI3IU9 moderate Biomarker [153]
MICU2 OTZY0PM2 moderate Genetic Variation [154]
MSANTD2 OTDNNUJZ moderate Genetic Variation [150]
NCAM2 OT8LBJN8 moderate Genetic Variation [155]
NDE1 OT2N8Q17 moderate Biomarker [156]
NDEL1 OTAGFML5 moderate Biomarker [156]
NDP OTGDJ4US moderate Genetic Variation [157]
NEDD4L OT1B19RU moderate Genetic Variation [158]
NLGN2 OTHDYL3H moderate Genetic Variation [125]
NLGN4X OTDJGBK8 moderate Genetic Variation [125]
NRXN2 OTB04QSU moderate Genetic Variation [125]
NRXN3 OTJ0I7HJ moderate Genetic Variation [125]
NTNG1 OTF48IID moderate Biomarker [159]
NUDT2 OTMHM1DH moderate Genetic Variation [160]
NUFIP2 OTZBZ224 moderate Genetic Variation [161]
PHF21A OTU3FFG4 moderate Genetic Variation [162]
PHOX2B OT3SFR2O moderate Genetic Variation [163]
PIK3C3 OTLUM9L7 moderate Biomarker [164]
PPP1R9A OTJL2TOC moderate Biomarker [144]
PRKN OTJBN41W moderate Genetic Variation [165]
PTCHD1 OTFDLU5S moderate Biomarker [166]
RAB40AL OTZWO8A5 moderate Genetic Variation [167]
RAI1 OTKLQU00 moderate Genetic Variation [168]
RBFOX3 OTL0F3D6 moderate Biomarker [169]
RNF2 OTFPLOIN moderate Altered Expression [170]
SECISBP2 OTBXUURJ moderate Biomarker [171]
SEPSECS OTP0FHOV moderate Genetic Variation [171]
SETDB1 OTWVUA1B moderate Genetic Variation [172]
SH2B1 OTJZO2CI moderate Genetic Variation [173]
SLU7 OTZUUICN moderate Biomarker [174]
TANC2 OTDXY7PX moderate Biomarker [175]
ACTL6B OTO7EJIS Strong Genetic Variation [176]
AHDC1 OTQ1VL2W Strong Biomarker [177]
ALG13 OTOH9PMY Strong Biomarker [13]
ANK3 OTJ3IRBP Strong Genetic Variation [178]
ANKRD11 OTV0V70M Strong Biomarker [13]
ANKS1B OT26DGM9 Strong Biomarker [179]
ARHGEF2 OTBQTFRT Strong Biomarker [180]
ARSD OTAHW9M8 Strong Biomarker [181]
ARX OTBGYH25 Strong Genetic Variation [47]
ASH1L OTUT5NLJ Strong Genetic Variation [182]
ASTN1 OT23FQIB Strong Altered Expression [183]
ASXL3 OTNDJWEZ Strong Biomarker [13]
ATP1A3 OTM8EG6H Strong Biomarker [184]
AUTS2 OTAEXHSC Strong Biomarker [185]
BANF1 OTP7Z38L Strong Genetic Variation [186]
BCL11B OT8KKCVJ Strong Genetic Variation [187]
BPTF OTD1RZAD Strong Biomarker [188]
CASK OT8EF7ZF Strong Biomarker [84]
CBLL2 OTB4AD3V Strong Genetic Variation [165]
CCNK OTZ7JBPK Strong Genetic Variation [189]
CERT1 OTNUCNHX Strong Biomarker [13]
CHD2 OTRKL6YC Strong Genetic Variation [190]
CNTN4 OTULXVE0 Strong Biomarker [191]
CNTN5 OTWU5FLZ Strong Genetic Variation [192]
CNTN6 OTXVGVOR Strong Biomarker [193]
CSNK2B OT2WW7R1 Strong Genetic Variation [194]
CTCF OT8ZB70U Strong Genetic Variation [195]
CYFIP2 OTCAY35T Strong Biomarker [196]
DDX3X OTDO4TRX Strong Biomarker [135]
DDX6 OTKWXVDY Strong Biomarker [135]
DEAF1 OTCLX3ZW Strong Genetic Variation [197]
DISC1 OT43AW4H Strong Genetic Variation [198]
DLG2 OTQ3BD8U Strong Biomarker [31]
DOCK8 OTNQLL21 Strong Genetic Variation [199]
DPP6 OTWW3H0K Strong Biomarker [200]
DTNBP1 OT9UQT2S Strong Biomarker [201]
EEF1A2 OT9Z23K5 Strong Biomarker [202]
EIF2B2 OTQQMHM1 Strong Genetic Variation [42]
EIF4G1 OT2CF1E6 Strong Genetic Variation [42]
FMR1 OTWEV0T5 Strong Genetic Variation [203]
FOXG1 OTAW57J4 Strong Biomarker [204]
FOXP2 OTVX6A59 Strong Biomarker [205]
FZR1 OT0WGWZS Strong Genetic Variation [206]
GABBR2 OT67RIFY Strong Genetic Variation [42]
GABRB3 OT80C3D4 Strong Biomarker [13]
GATAD2B OTJL128N Strong Biomarker [207]
GNB1 OTLL7L74 Strong Genetic Variation [208]
GPHN OTAKK1SV Strong Genetic Variation [209]
HACE1 OTEZULKD Strong Genetic Variation [210]
HECW2 OTP2IN12 Strong Genetic Variation [211]
HERC2 OTNQYKOB Strong Genetic Variation [212]
HNRNPH2 OTMGP4J7 Strong Genetic Variation [213]
HNRNPU OTLQN1E2 Strong Biomarker [13]
HUWE1 OTFH6BJS Strong Genetic Variation [43]
IQSEC2 OTYFRM4Q Strong Biomarker [13]
KIRREL3 OTW7PENS Strong Biomarker [214]
KMT2E OTYOLNOG Strong Genetic Variation [215]
MAB21L1 OT8FJMU8 Strong Genetic Variation [216]
MAGEL2 OTXEL4R7 Strong Genetic Variation [217]
MBD5 OTFHT4MO Strong Genetic Variation [80]
MCPH1 OTYT3TT5 Strong Genetic Variation [218]
MED13 OTP5LEJE Strong Genetic Variation [219]
MUL1 OT2JC9YR Strong Genetic Variation [165]
MYT1L OTV45MAS Strong Biomarker [33]
NEXMIF OT576F40 Strong Biomarker [220]
NPAS4 OTA3HH6W Strong Altered Expression [221]
NRG3 OTIFZ5CT Strong Biomarker [222]
NSUN2 OTZCNM33 Strong Biomarker [223]
NTNG2 OTTY88DL Strong Genetic Variation [224]
PHACTR1 OTAMPX9V Strong Genetic Variation [225]
PIK3AP1 OTMW1B47 Strong Biomarker [226]
POU3F3 OT6BBXPD Strong Genetic Variation [227]
PRPF8 OTU39JZI Strong Autosomal dominant [228]
PSMD12 OTWICA51 Strong Genetic Variation [229]
PURA OT975ELW Strong Biomarker [13]
PVALB OTZW1WVQ Strong Biomarker [221]
RAB11A OTC4FW0J Strong Genetic Variation [230]
RBFOX1 OTFPKEL7 Strong Genetic Variation [231]
RELN OTLKMW1O Strong Biomarker [232]
RHOBTB2 OT2DATFX Strong Genetic Variation [42]
RPL10 OTBHOZGC Strong Genetic Variation [233]
SATB2 OT2W80XC Strong Genetic Variation [234]
SETD1A OTVVWRIC Strong Genetic Variation [235]
SETD5 OTRPAVEO Strong Genetic Variation [236]
SHANK2 OTSQTPFQ Strong Genetic Variation [237]
SHROOM4 OT33GO6E Strong Genetic Variation [42]
SLC2A4RG OTW3LX8D Strong Biomarker [180]
SMARCA1 OT0Y6PTU Strong Genetic Variation [238]
SMARCA2 OTSGJ8SV Strong Genetic Variation [239]
SMARCC2 OTC5SNMZ Strong Genetic Variation [240]
SMC1A OT9ZMRK9 Strong Biomarker [13]
SNRPN OTQB1ID1 Strong Biomarker [21]
STRADA OTG1Z6TY Strong Genetic Variation [241]
STXBP1 OTRYA8C3 Strong Biomarker [242]
SYNGAP1 OT41HVYQ Strong Genetic Variation [243]
TBR1 OT14JQT8 Strong Genetic Variation [244]
TCF4 OTB9ASTK Strong Biomarker [245]
TFE3 OTM99ZWH Strong Biomarker [246]
TLK2 OTZ09CG8 Strong Genetic Variation [117]
TRAK1 OTMQVYNP Strong Biomarker [247]
TRIM32 OTJOV0PG Strong Biomarker [248]
TRIO OT71X1AK Strong Biomarker [249]
ADNP OTEGICWR Definitive Biomarker [33]
ANK2 OTWB4R1Y Definitive Biomarker [33]
CDC42BPB OTO6NT7Q Definitive Biomarker [33]
DLGAP1 OTF2PUUI Definitive Biomarker [33]
DSCAM OTL7PRMK Definitive Biomarker [33]
GIGYF2 OTFNVEJ4 Definitive Biomarker [33]
HIVEP3 OTM3QT3L Definitive Biomarker [33]
ILF2 OTWWVM9X Definitive Biomarker [33]
KATNAL2 OTL33OIT Definitive Biomarker [33]
KMT2C OTC59BCO Definitive Biomarker [33]
MED13L OTSP1W0F Definitive Biomarker [33]
NCKAP1 OTEZQXXJ Definitive Biomarker [33]
PARD3B OTGZ43YI Definitive Biomarker [33]
PHF2 OTJCIQR2 Definitive Biomarker [33]
PLXNB1 OTCA7JIT Definitive Biomarker [33]
PPP2R5D OT43TTX0 Definitive Biomarker [33]
RIMS1 OT10T7CK Definitive Biomarker [33]
SETBP1 OTKGCOSR Definitive Biomarker [33]
SMC3 OTWGFRHD Definitive Biomarker [33]
SPAST OTIF3AJI Definitive Biomarker [33]
SRCAP OT82P6CN Definitive Biomarker [33]
SRGAP3 OT9ZS72C Definitive Biomarker [33]
TNRC6B OTGVT0SH Definitive Biomarker [33]
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⏷ Show the Full List of 259 DOT(s)

References

1 ADGRL3 rs6551665 as a Common Vulnerability Factor Underlying Attention-Deficit/Hyperactivity Disorder and Autism Spectrum Disorder.Neuromolecular Med. 2019 Mar;21(1):60-67. doi: 10.1007/s12017-019-08525-x. Epub 2019 Jan 16.
2 Gating defects of disease-causing de novo mutations in Ca(v)1.3 Ca(2+) channels.Channels (Austin). 2018;12(1):388-402. doi: 10.1080/19336950.2018.1546518.
3 Raptor-Mediated Proteasomal Degradation of Deamidated 4E-BP2 Regulates Postnatal Neuronal Translation and NF-B Activity.Cell Rep. 2019 Dec 10;29(11):3620-3635.e7. doi: 10.1016/j.celrep.2019.11.023.
4 High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders.Genet Med. 2018 Apr;20(4):403-410. doi: 10.1038/gim.2017.114. Epub 2017 Aug 24.
5 Epigenetic Alterations in Prenatal Stress Mice as an Endophenotype Model for Schizophrenia: Role of Metabotropic Glutamate 2/3 Receptors.Front Mol Neurosci. 2018 Nov 30;11:423. doi: 10.3389/fnmol.2018.00423. eCollection 2018.
6 Heterozygous loss of epilepsy gene KCNQ2 alters social, repetitive and exploratory behaviors.Genes Brain Behav. 2020 Jan;19(1):e12599. doi: 10.1111/gbb.12599. Epub 2019 Jul 31.
7 De Novo Mutations Affecting the Catalytic C Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.Am J Hum Genet. 2019 Jan 3;104(1):139-156. doi: 10.1016/j.ajhg.2018.12.002. Epub 2018 Dec 27.
8 Novel calcineurin A (PPP3CA) variant associated with epilepsy, constitutive enzyme activation and downregulation of protein expression.Eur J Hum Genet. 2019 Jan;27(1):61-69. doi: 10.1038/s41431-018-0254-8. Epub 2018 Sep 25.
9 A de novo variant in RAC3 causes severe global developmental delay and a middle interhemispheric variant of holoprosencephaly.J Hum Genet. 2019 Nov;64(11):1127-1132. doi: 10.1038/s10038-019-0656-7. Epub 2019 Aug 16.
10 Neurodevelopmental disorder associated with de novo SCN3A pathogenic variants: two new cases and review of the literature.Brain Dev. 2020 Feb;42(2):211-216. doi: 10.1016/j.braindev.2019.09.004. Epub 2019 Oct 31.
11 Analysis of ubiquitin recognition by the HECT ligase E6AP provides insight into its linkage specificity.J Biol Chem. 2019 Apr 12;294(15):6113-6129. doi: 10.1074/jbc.RA118.007014. Epub 2019 Feb 8.
12 Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder. Am J Hum Genet. 2019 Apr 4;104(4):701-708. doi: 10.1016/j.ajhg.2019.02.002. Epub 2019 Mar 14.
13 De novo variants in neurodevelopmental disorders with epilepsy.Nat Genet. 2018 Jul;50(7):1048-1053. doi: 10.1038/s41588-018-0143-7. Epub 2018 Jun 25.
14 15q13.3 duplication in two patients with childhood-onset schizophrenia.Am J Med Genet B Neuropsychiatr Genet. 2016 Sep;171(6):777-83. doi: 10.1002/ajmg.b.32439. Epub 2016 Mar 10.
15 Rare genetic variants in the endocannabinoid system genes CNR1 and DAGLA are associated with neurological phenotypes in humans.PLoS One. 2017 Nov 16;12(11):e0187926. doi: 10.1371/journal.pone.0187926. eCollection 2017.
16 How Stuttering Develops: The Multifactorial Dynamic Pathways Theory.J Speech Lang Hear Res. 2017 Sep 18;60(9):2483-2505. doi: 10.1044/2017_JSLHR-S-16-0343.
17 De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder.Am J Hum Genet. 2018 Aug 2;103(2):305-316. doi: 10.1016/j.ajhg.2018.07.003. Epub 2018 Jul 26.
18 No evidence for significant association between GABA receptor genes in chromosome 15q11-q13 and autism in a Japanese population.J Hum Genet. 2007;52(12):985-989. doi: 10.1007/s10038-007-0207-5. Epub 2007 Oct 24.
19 Oxytocin Receptor Polymorphisms are Differentially Associated with Social Abilities across Neurodevelopmental Disorders.Sci Rep. 2017 Sep 14;7(1):11618. doi: 10.1038/s41598-017-10821-0.
20 Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder. Am J Hum Genet. 2018 Oct 4;103(4):579-591. doi: 10.1016/j.ajhg.2018.09.005.
21 Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.Cell. 2012 Apr 27;149(3):525-37. doi: 10.1016/j.cell.2012.03.028. Epub 2012 Apr 19.
22 Microcephalic primordial dwarfism in an Emirati patient with PNKP mutation.Am J Med Genet A. 2016 Aug;170(8):2127-32. doi: 10.1002/ajmg.a.37766. Epub 2016 May 27.
23 Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy.Eur J Hum Genet. 2016 Dec;24(12):1761-1770. doi: 10.1038/ejhg.2016.80. Epub 2016 Jun 29.
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188 Association of 17q24.2-q24.3 deletions with recognizable phenotype and short telomeres.Am J Med Genet A. 2018 Jun;176(6):1438-1442. doi: 10.1002/ajmg.a.38711. Epub 2018 Apr 25.
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193 CNTN6 copy number variations: Uncertain clinical significance in individuals with neurodevelopmental disorders.Eur J Med Genet. 2020 Jan;63(1):103636. doi: 10.1016/j.ejmg.2019.02.008. Epub 2019 Mar 2.
194 Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizures.J Hum Genet. 2019 Apr;64(4):313-322. doi: 10.1038/s10038-018-0559-z. Epub 2019 Jan 17.
195 Three additional de novo CTCF mutations in Chinese patients help to define an emerging neurodevelopmental disorder.Am J Med Genet C Semin Med Genet. 2019 Jun;181(2):218-225. doi: 10.1002/ajmg.c.31698. Epub 2019 Mar 20.
196 Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures.Eur J Hum Genet. 2019 May;27(5):747-759. doi: 10.1038/s41431-018-0331-z. Epub 2019 Jan 21.
197 Impaired memory and marble burying activity in deformed epidermal autoregulatory factor 1 (Deaf1) conditional knockout mice.Behav Brain Res. 2020 Feb 17;380:112383. doi: 10.1016/j.bbr.2019.112383. Epub 2019 Nov 26.
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199 Rare structural variants in the DOCK8 gene identified in a cohort of 439 patients with neurodevelopmental disorders.Sci Rep. 2018 Jun 21;8(1):9449. doi: 10.1038/s41598-018-27824-0.
200 Gonadal mosaicism of large terminal de novo duplication and deletion in siblings with variable intellectual disability phenotypes.Mol Genet Genomic Med. 2019 Oct;7(10):e00954. doi: 10.1002/mgg3.954. Epub 2019 Sep 1.
201 Dysbindin Deficiency Modifies the Expression of GABA Neuron and Ion Permeation Transcripts in the Developing Hippocampus.Front Genet. 2017 Mar 10;8:28. doi: 10.3389/fgene.2017.00028. eCollection 2017.
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204 The role of FOXG1 in the postnatal development and survival of mouse cochlear hair cells.Neuropharmacology. 2019 Jan;144:43-57. doi: 10.1016/j.neuropharm.2018.10.021. Epub 2018 Oct 15.
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208 Novel GNB1 de novo mutation in a patient with neurodevelopmental disorder and cutaneous mastocytosis: Clinical report and literature review.Eur J Med Genet. 2018 Mar;61(3):157-160. doi: 10.1016/j.ejmg.2017.11.010. Epub 2017 Nov 23.
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210 HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome. J Med Genet. 2015 Dec;52(12):797-803. doi: 10.1136/jmedgenet-2015-103344. Epub 2015 Sep 30.
211 De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia. J Med Genet. 2017 Feb;54(2):84-86. doi: 10.1136/jmedgenet-2016-103943. Epub 2016 Jul 7.
212 Proteomic investigations of human HERC2 mutants: Insights into the pathobiology of a neurodevelopmental disorder.Biochem Biophys Res Commun. 2019 Apr 30;512(2):421-427. doi: 10.1016/j.bbrc.2019.02.149. Epub 2019 Mar 19.
213 Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females. Am J Hum Genet. 2016 Sep 1;99(3):728-734. doi: 10.1016/j.ajhg.2016.06.028. Epub 2016 Aug 18.
214 Abnormal behaviours relevant to neurodevelopmental disorders in Kirrel3-knockout mice.Sci Rep. 2018 Jan 23;8(1):1408. doi: 10.1038/s41598-018-19844-7.
215 Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy. Am J Hum Genet. 2019 Jun 6;104(6):1210-1222. doi: 10.1016/j.ajhg.2019.03.021. Epub 2019 May 9.
216 MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome). J Med Genet. 2019 May;56(5):332-339. doi: 10.1136/jmedgenet-2018-105623. Epub 2018 Nov 28.
217 mTOR and autophagy pathways are dysregulated in murine and human models of Schaaf-Yang syndrome.Sci Rep. 2019 Nov 4;9(1):15935. doi: 10.1038/s41598-019-52287-2.
218 The E3 ubiquitin ligase APC/C(C)(dh1) degrades MCPH1 after MCPH1-TrCP2-Cdc25A-mediated mitotic entry to ensure neurogenesis.EMBO J. 2017 Dec 15;36(24):3666-3681. doi: 10.15252/embj.201694443. Epub 2017 Nov 17.
219 De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder. Hum Genet. 2018 May;137(5):375-388. doi: 10.1007/s00439-018-1887-y. Epub 2018 May 8.
220 NEXMIF/KIDLIA Knock-out Mouse Demonstrates Autism-Like Behaviors, Memory Deficits, and Impairments in Synapse Formation and Function.J Neurosci. 2020 Jan 2;40(1):237-254. doi: 10.1523/JNEUROSCI.0222-19.2019. Epub 2019 Nov 8.
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222 Thyroid hormone influences brain gene expression programs and behaviors in later generations by altering germ line epigenetic information.Mol Psychiatry. 2020 May;25(5):939-950. doi: 10.1038/s41380-018-0281-4. Epub 2018 Oct 24.
223 NSUN2 introduces 5-methylcytosines in mammalian mitochondrial tRNAs.Nucleic Acids Res. 2019 Sep 19;47(16):8720-8733. doi: 10.1093/nar/gkz559.
224 Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder. Am J Hum Genet. 2019 Nov 7;105(5):1048-1056. doi: 10.1016/j.ajhg.2019.09.025. Epub 2019 Oct 24.
225 De novo PHACTR1 mutations in West syndrome and their pathophysiological effects. Brain. 2018 Nov 1;141(11):3098-3114. doi: 10.1093/brain/awy246.
226 The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study. Eur J Hum Genet. 2019 Mar;27(3):408-421. doi: 10.1038/s41431-018-0299-8. Epub 2018 Dec 14.
227 De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder. Am J Hum Genet. 2019 Aug 1;105(2):403-412. doi: 10.1016/j.ajhg.2019.06.007. Epub 2019 Jul 11.
228 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
229 PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features.Am J Med Genet B Neuropsychiatr Genet. 2018 Dec;177(8):736-745. doi: 10.1002/ajmg.b.32688. Epub 2018 Nov 13.
230 Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts. J Med Genet. 2018 Nov;55(11):753-764. doi: 10.1136/jmedgenet-2018-105441. Epub 2018 Aug 17.
231 RBFOX1, encoding a splicing regulator, is a candidate gene for aggressive behavior.Eur Neuropsychopharmacol. 2020 Jan;30:44-55. doi: 10.1016/j.euroneuro.2017.11.012. Epub 2017 Nov 23.
232 Reelin controls the positioning of brainstem serotonergic raphe neurons.PLoS One. 2018 Jul 12;13(7):e0200268. doi: 10.1371/journal.pone.0200268. eCollection 2018.
233 RPL10 mutation segregating in a family with X-linked syndromic Intellectual Disability.Am J Med Genet A. 2015 Aug;167A(8):1908-12. doi: 10.1002/ajmg.a.37094. Epub 2015 Apr 6.
234 Mutation update for the SATB2 gene.Hum Mutat. 2019 Aug;40(8):1013-1029. doi: 10.1002/humu.23771. Epub 2019 Jun 18.
235 De Novo and Inherited SETD1A Variants in Early-onset Epilepsy.Neurosci Bull. 2019 Dec;35(6):1045-1057. doi: 10.1007/s12264-019-00400-w. Epub 2019 Jun 13.
236 Genetic variations on SETD5 underlying autistic conditions.Dev Neurobiol. 2018 May;78(5):500-518. doi: 10.1002/dneu.22584. Epub 2018 Mar 5.
237 A direct regulatory link between microRNA-137 and SHANK2: implications for neuropsychiatric disorders.J Neurodev Disord. 2018 Apr 17;10(1):15. doi: 10.1186/s11689-018-9233-1.
238 A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies. Am J Hum Genet. 2019 Apr 4;104(4):596-610. doi: 10.1016/j.ajhg.2019.02.001. Epub 2019 Mar 14.
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241 Novel Homozygous Deletion in STRADA Gene Associated With Polyhydramnios, Megalencephaly, and Epilepsy in 2 Siblings: Implications for Diagnosis and Treatment.J Child Neurol. 2018 Dec;33(14):925-929. doi: 10.1177/0883073818802724. Epub 2018 Oct 12.
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245 TCF4 (E2-2) harbors tumor suppressive functions in SHH medulloblastoma.Acta Neuropathol. 2019 Apr;137(4):657-673. doi: 10.1007/s00401-019-01982-5. Epub 2019 Mar 4.
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248 Expression of the Parkinson's Disease-Associated Gene Alpha-Synuclein is Regulated by the Neuronal Cell Fate Determinant TRIM32.Mol Neurobiol. 2017 Aug;54(6):4257-4270. doi: 10.1007/s12035-016-9989-9. Epub 2016 Jun 23.
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