18p11.32-q23CNV Type: Duplication
Largest CNV size: 75983193 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
Duplication identified in a case with developmental delay/intellectual disability (Girirajan et al., 2012)
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
No Minor Reports
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
girirajan_12_ASD/DD/ID_discovery_cases
Samples from affected children submitted to Signature Genomic Laboratories from 2008-2010.
32587
Developmental delay with or without congenital malformations
75983193
0
1
1
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
76025515
0
8
8
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
girirajan_12_ASD/DD/ID_discovery_controls
Persons found to have no overt neurological disorders during screening for other studies
8329
Control
75983193
NA
NA
NA
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
girirajan_12_ASD/DD/ID_discovery_cases
aCGH
BACs aCGH, SignatureChipOS
FISH, aCGH, or confirmation by inheritance
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
girirajan_12_ASD/DD/ID_discovery_controls
aCGH
BACs ACGH (SignatureChipoWG) or oligoarray (SignatureChipOS)
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
girirajan_12_ASD/DD/ID_discovery_cases-case66683
NA
NA
Developmental delay
NA
NA
141491
80255827
80114337
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001009
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
148963
80252149
80103187
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002299
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
53345
80209986
80156642
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003815
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
148763
80252290
80103528
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004102
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
148763
80252290
80103528
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004781
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
148963
80244381
80095419
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005197
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
148963
80252149
80103187
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005337
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
148963
80252149
80103187
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005429
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
53345
80209986
80156642
GRCh38
Duplication
Yes
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
girirajan_12_ASD/DD/ID_discovery_cases-case66683
FISH, aCGH, or confirmation by inheritance
Unknown
Unknown
Unknown
LINC01925,CETN1,RN7SKP146,RNU1-109P,BOLA2P1,ADCYAP1,LINC01904,COX6CP3,RN7SKP72,KATNBL1P3,RNU6-340P,SNRPCP4,RNU7-25P,MYL12A,LINC01895,RPL31P59,IGLJCOR18,RPL21P127,BOD1P1,RN7SL39P,DLGAP1-AS1,MIR6718,RNU6-831P,GAPDHP66,PPIAP14,BOD1P2,LINC00526,MIR3976,TMEM200C,RNU5F-3P,MIR4317,RNU6-349P,RPL6P27,RN7SL282P,LINC00668,SCML2P1,RNU6-916P,SLC25A51P2,LRRC30,RFWD2P1,RN7SL50P,AKR1B1P6,TOMM20P3,RPS4XP19,RNU2-27P,RNU6-903P,KRT18P8,ZNF415P1,RNA5SP449,PIGPP4,TXNDC2,RNA5SP450,LINC01254,CCDC58P1,PMM2P1,KIAA0895LP1,MIR6788,LINC01928,SLC35G4,MIR7153,CHMP1B,CHMP1B-AS1,RNU6-324P,SDHDP1,CCDC58P3,PPIAP56,RNU6-170P,RNU7-129P,STK25P1,EIF4A2P1,C18orf15,LDLRAD4-AS1,MIR5190,MIR4526,RN7SL362P,MC5R,FRG2LP,RNU6-316P,RHOT1P1,CYP4F35P,TERF1P2,FEM1AP2,GRAMD4P7,RNU6-1021P,OR4K7P,OR4K8P,VN1R74P,RNU6-1210P,MIR3156-2,LINC01906,FGF7P1,LINC01444,BNIP3P3,RNU6-721P,RNU6-120P,EXOGP1,MIR320C1,RN7SL233P,MIR133A1HG,MIR133A1,MIR1-2,RNU6-1038P,RNA5SP451,RNU6ATAC20P,RNU6-702P,CTAGE1,RPS4XP18,RNU6-1032P,UBE2CP2,MIR4741,RN7SL745P,RPS10P27,RPL23AP77,RNU5A-6P,RNA5SP452,RNU6-435P,MIR320C2,EIF4A3P1,RAC1P1,PPIAP57,WBP2P1,RN7SL97P,RPS24P18,DHFRP1,NPM1P2,SINHCAFP1,RNU6-1289P,LINC01543,MIR8057,CIAPIN1P,UBA52P9,RBM22P1,PA2G4P3,ARIH2P1,RNU6-408P,MIR302F,RNU6-857P,RNU6-167P,RN7SKP44,LRRC37A7P,SLC25A52,RNU6-1050P,PGDP1,RNA5SP453,CLUHP6,HNRNPA1P7,WBP11P1,MIR3975,NRBF2P1,MIR187,MIR3929,MIR4318,RPL12P40,RN7SKP182,RNU6-706P,RPL7AP66,MIR924,MIR5583-2,MIR5583-1,RNU6-1242P,RPL17P45,RNA5SP454,RNA5SP455,KRT8P5,MLECP1,MIR4319,RNY4P37,RNU6-1278P,ELOA3D,ELOA3C,ELOA3B,ELOA3,ELOA2,RNU6-1131P,MIR4527,TPMTP1,MTCO2P2,RNU6-708P,C18orf12,RNA5SP456,POLR3GP2,MIR4743,MIR4744,PRR13P4,RPL17-C18orf32,MIR1539,RPL17,SNORD58C,SNORD58A,SNORD58B,SMUG1P1,SCARNA17,RNA5SP457,ADAD1P2,MIR4320,RN7SL310P,MBD1,RNA5SP458,RPLP0P11,HNRNPA3P16,RPL17P46,SRSF10P1,RNU1-46P,SS18L2P2,RSL24D1P9,RPS8P3,VN1R76P,MIR4528,RPL29P32,SNORA37,SNRPGP2,RPSAP57,MAP1LC3P,RNA5SP459,MIR4529,RPL21P126,LINC01415,LINC02565,RNU6-737P,RNU6-742P,RSL24D1P11,LINC01897,HMGN1P30,MIR122HG,MIR122,MIR3591,SNORA108,RPL9P31,MRPL37P1,RNU6-219P,RNU2-69P,RAX,RPS26P54,GLUD1P4,PMAIP1,NFE2L3P1,RN7SL342P,SDCCAG3P1,SINHCAFP2,RNU6-567P,RPS3AP49,RNU4-17P,MC4R,MRPS5P4,CTBP2P3,HMGN1P31,RNU6-116P,RPL30P14,RPIAP1,RPL17P44,ACTBP9,RN7SL705P,RNU6-142P,ATP5MC1P6,SERPINB12,SERPINB4,SERPINB3,RPL12P39,PRPF19P1,RNU6-1037P,MIR5011,RPL31P9,DSEL,LINC01912,AKR1B10P2,RNU6-39P,SDHCP1,LINC01910,LARP7P3,RPS2P6,RN7SL795P,HNRNPA1P11,RNA5SP460,MIR548AV,RN7SL401P,RN7SL551P,FAUP1,LINC01922,LINC01893,LINC00683,ARL2BPP1,CCND3P2,RNU6-346P,RPL26P35,BDP1P,RNA5SP461,RNU6-655P,LINC01896,SLC25A6P4,USP14,CLUL1,TYMS,ENOSF1,METTL4,NDC80,CBX3P2,LPIN2,TGIF1,GAPLINC,DLGAP1-AS2,DLGAP1-AS3,DLGAP1-AS4,DLGAP1-AS5,LINC01892,AKAIN1,ZBTB14,L3MBTL4-AS1,THEMIS3P,RAB12,GACAT2,NDUFV2,NDUFV2-AS1,TWSG1,RALBP1,PPP4R1-AS1,VAPA,NAPG,LINC01255,NPIPB1P,ASNSP6,MPPE1,IMPA2,ANKRD62,CIDEA,AFG3L2,PRELID3A,CEP76,FAM210A,ZNF519,ANKRD20A5P,LONRF2P1,CXADRP3,POTEC,SNX19P3,GTF2IP8,LINC01443,ESCO1,ABHD3,GATA6-AS1,GATA6,RMC1,NPC1,ANKRD29,TTC39C-AS1,CABYR,IMPACT,HRH4,LINC01894,PSMA8,PCAT18,AQP4,LINC01908,DSC3,DSCAS,DSC1,DSG1-AS1,DSG4,DSG2,DSG2-AS1,B4GALT6,RNF125,MEP1B,ZNF271P,ZNF24,ZNF396,INO80C,C18orf21,SLC39A6,MOCOS,TPGS2,LINC01477,SYT4,SIGLEC15,RN7SKP26,ATP5F1A,HAUS1,C18orf25,ST8SIA5,PIAS2,HDHD2,IER3IP1,SKOR2,SMAD7,C18orf32,SRP72P1,LIPG,SNHG22,CFAP53,CXXC1,SKA1,MRO,ME2,SMAD4,MEX3C,LINC01917,LINC01919,MBD2,POLI,STARD6,C18orf54,DYNAP,LINC01929,TCF4-AS1,TCF4-AS2,LINC01416,LINC01905,WDR7-OT1,LINC-ROR,ST8SIA3,ONECUT2,FECH,NARS,LINC01926,OACYLP,SEC11C,GRP,CPLX4,LMAN1,LINC01544,ZCCHC2,KDSR,VPS4B,SERPINB5,SERPINB13,SERPINB7,SERPINB2,SERPINB10,SERPINB8,LINC01916,LINC01903,SOCS6,LINC01909,LIVAR,LINC01899,LINC02582,FBXO15,TIMM21,CYB5A,CNDP2,LINC00909,ZADH2,SMIM21,LINC01898,C18orf65,LINC01927,LINC01879,GALR1,SALL3,KCNG2,PQLC1,HSBP1L1,TXNL4A,RBFA,ADNP2,PARD6G-AS1,THOC1,COLEC12,TYMSOS,YES1,LINC00470,SMCHD1,EMILIN2,MYL12B,EPB41L3,MIR3976HG,LINC01387,ARHGAP28,LAMA1,MTCL1,ANKRD12,PPP4R1,RAB31,RN7SL862P,LINC01887,PIEZO2,GNAL,TUBB6,PSMG2,PTPN2,SEH1L,CEP192,RNMT,MC2R,NF1P5,ANKRD30B,GREB1L,SNRPD1,MIB1,RBBP8,CABLES1,TMEM241,RIOK3,LAMA3,OSBPL1A,LINC01915,SS18,TAF4B,KCTD1,AQP4-AS1,CHST9,CDH2,DSC2,DSG1,TTR,TRAPPC8,RNF138,GAREM1,KLHL14,CCDC178,ASXL3,NOL4,MAPRE2,ZNF397,ZSCAN30,RPRD1A,ELP2,KIAA1328,CELF4,KC6,PIK3C3,LINC00907,LINC01478,SETBP1,SLC14A2,SLC14A2-AS1,SLC14A1,EPG5,PSTPIP2,RNF165,LOXHD1,KATNAL2,MIR4527HG,SMAD2,CTIF,ACAA2,MYO5B,MAPK4,ELAC1,RAB27B,CCDC68,LINC01539,WDR7,BOD1L2,NEDD4L,ALPK2,ZNF532,CCBE1,CDH20,PIGN,RELCH,TNFRSF11A,BCL2,SERPINB11,LINC01924,LINC00305,LINC01538,CDH7,CDH19,TMX3,CCDC102B,DOK6,CD226,RTTN,GTSCR1,LINC01541,CBLN2,NETO1,C18orf63,CNDP1,ZNF407,TSHZ1,ZNF516,ZNF236-DT,ZNF236,MBP,LINC01029,ATP9B,NFATC1,RBFADN,PARD6G,MYOM1,DLGAP1,LINC00667,L3MBTL4,APCDD1,SPIRE1,LDLRAD4,ROCK1,LINC01900,TTC39C,DSG3,DTNA,GALNT1,FHOD3,LINC01901,LINC01902,RIT2,ZBTB7C,DYM,LINC01630,DCC,TCF4,TXNL1,ATP8B1,RNF152,PHLPP1,HMSD,LINC00908,CTDP1,PTPRM,ZNF521,MALT1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001009
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC01925,CETN1,RN7SKP146,RNU1-109P,BOLA2P1,ADCYAP1,LINC01904,COX6CP3,RN7SKP72,KATNBL1P3,RNU6-340P,SNRPCP4,RNU7-25P,MYL12A,LINC01895,RPL31P59,IGLJCOR18,RPL21P127,BOD1P1,RN7SL39P,DLGAP1-AS1,MIR6718,RNU6-831P,GAPDHP66,PPIAP14,BOD1P2,LINC00526,MIR3976,TMEM200C,RNU5F-3P,MIR4317,RNU6-349P,RPL6P27,RN7SL282P,LINC00668,SCML2P1,RNU6-916P,SLC25A51P2,LRRC30,RFWD2P1,RN7SL50P,AKR1B1P6,TOMM20P3,RPS4XP19,RNU2-27P,RNU6-903P,KRT18P8,ZNF415P1,RNA5SP449,PIGPP4,TXNDC2,RNA5SP450,LINC01254,CCDC58P1,PMM2P1,KIAA0895LP1,MIR6788,LINC01928,SLC35G4,MIR7153,CHMP1B,CHMP1B-AS1,RNU6-324P,SDHDP1,CCDC58P3,PPIAP56,RNU6-170P,RNU7-129P,STK25P1,EIF4A2P1,C18orf15,LDLRAD4-AS1,MIR5190,MIR4526,RN7SL362P,MC5R,FRG2LP,RNU6-316P,RHOT1P1,CYP4F35P,TERF1P2,FEM1AP2,GRAMD4P7,RNU6-1021P,OR4K7P,OR4K8P,VN1R74P,RNU6-1210P,MIR3156-2,LINC01906,FGF7P1,LINC01444,BNIP3P3,RNU6-721P,RNU6-120P,EXOGP1,MIR320C1,RN7SL233P,MIR133A1HG,MIR133A1,MIR1-2,RNU6-1038P,RNA5SP451,RNU6ATAC20P,RNU6-702P,CTAGE1,RPS4XP18,RNU6-1032P,UBE2CP2,MIR4741,RN7SL745P,RPS10P27,RPL23AP77,RNU5A-6P,RNA5SP452,RNU6-435P,MIR320C2,EIF4A3P1,RAC1P1,PPIAP57,WBP2P1,RN7SL97P,RPS24P18,DHFRP1,NPM1P2,SINHCAFP1,RNU6-1289P,LINC01543,MIR8057,CIAPIN1P,UBA52P9,RBM22P1,PA2G4P3,ARIH2P1,RNU6-408P,MIR302F,RNU6-857P,RNU6-167P,RN7SKP44,LRRC37A7P,SLC25A52,RNU6-1050P,PGDP1,RNA5SP453,CLUHP6,HNRNPA1P7,WBP11P1,MIR3975,NRBF2P1,MIR187,MIR3929,MIR4318,RPL12P40,RN7SKP182,RNU6-706P,RPL7AP66,MIR924,MIR5583-2,MIR5583-1,RNU6-1242P,RPL17P45,RNA5SP454,RNA5SP455,KRT8P5,MLECP1,MIR4319,RNY4P37,RNU6-1278P,ELOA3D,ELOA3C,ELOA3B,ELOA3,ELOA2,RNU6-1131P,MIR4527,TPMTP1,MTCO2P2,RNU6-708P,C18orf12,RNA5SP456,POLR3GP2,MIR4743,MIR4744,PRR13P4,RPL17-C18orf32,MIR1539,RPL17,SNORD58C,SNORD58A,SNORD58B,SMUG1P1,SCARNA17,RNA5SP457,ADAD1P2,MIR4320,RN7SL310P,MBD1,RNA5SP458,RPLP0P11,HNRNPA3P16,RPL17P46,SRSF10P1,RNU1-46P,SS18L2P2,RSL24D1P9,RPS8P3,VN1R76P,MIR4528,RPL29P32,SNORA37,SNRPGP2,RPSAP57,MAP1LC3P,RNA5SP459,MIR4529,RPL21P126,LINC01415,LINC02565,RNU6-737P,RNU6-742P,RSL24D1P11,LINC01897,HMGN1P30,MIR122HG,MIR122,MIR3591,SNORA108,RPL9P31,MRPL37P1,RNU6-219P,RNU2-69P,RAX,RPS26P54,GLUD1P4,PMAIP1,NFE2L3P1,RN7SL342P,SDCCAG3P1,SINHCAFP2,RNU6-567P,RPS3AP49,RNU4-17P,MC4R,MRPS5P4,CTBP2P3,HMGN1P31,RNU6-116P,RPL30P14,RPIAP1,RPL17P44,ACTBP9,RN7SL705P,RNU6-142P,ATP5MC1P6,SERPINB12,SERPINB4,SERPINB3,RPL12P39,PRPF19P1,RNU6-1037P,MIR5011,RPL31P9,DSEL,LINC01912,AKR1B10P2,RNU6-39P,SDHCP1,LINC01910,LARP7P3,RPS2P6,RN7SL795P,HNRNPA1P11,RNA5SP460,MIR548AV,RN7SL401P,RN7SL551P,FAUP1,LINC01922,LINC01893,LINC00683,ARL2BPP1,CCND3P2,RNU6-346P,RPL26P35,BDP1P,RNA5SP461,RNU6-655P,LINC01896,SLC25A6P4,USP14,CLUL1,TYMS,ENOSF1,METTL4,NDC80,CBX3P2,LPIN2,TGIF1,GAPLINC,DLGAP1-AS2,DLGAP1-AS3,DLGAP1-AS4,DLGAP1-AS5,LINC01892,AKAIN1,ZBTB14,L3MBTL4-AS1,THEMIS3P,RAB12,GACAT2,NDUFV2,NDUFV2-AS1,TWSG1,RALBP1,PPP4R1-AS1,VAPA,NAPG,LINC01255,NPIPB1P,ASNSP6,MPPE1,IMPA2,ANKRD62,CIDEA,AFG3L2,PRELID3A,CEP76,FAM210A,ZNF519,ANKRD20A5P,LONRF2P1,CXADRP3,POTEC,SNX19P3,GTF2IP8,LINC01443,ESCO1,ABHD3,GATA6-AS1,GATA6,RMC1,NPC1,ANKRD29,TTC39C-AS1,CABYR,IMPACT,HRH4,LINC01894,PSMA8,PCAT18,AQP4,LINC01908,DSC3,DSCAS,DSC1,DSG1-AS1,DSG4,DSG2,DSG2-AS1,B4GALT6,RNF125,MEP1B,ZNF271P,ZNF24,ZNF396,INO80C,C18orf21,SLC39A6,MOCOS,TPGS2,LINC01477,SYT4,SIGLEC15,RN7SKP26,ATP5F1A,HAUS1,C18orf25,ST8SIA5,PIAS2,HDHD2,IER3IP1,SKOR2,SMAD7,C18orf32,SRP72P1,LIPG,SNHG22,CFAP53,CXXC1,SKA1,MRO,ME2,SMAD4,MEX3C,LINC01917,LINC01919,MBD2,POLI,STARD6,C18orf54,DYNAP,LINC01929,TCF4-AS1,TCF4-AS2,LINC01416,LINC01905,WDR7-OT1,LINC-ROR,ST8SIA3,ONECUT2,FECH,NARS,LINC01926,OACYLP,SEC11C,GRP,CPLX4,LMAN1,LINC01544,ZCCHC2,KDSR,VPS4B,SERPINB5,SERPINB13,SERPINB7,SERPINB2,SERPINB10,SERPINB8,LINC01916,LINC01903,SOCS6,LINC01909,LIVAR,LINC01899,LINC02582,FBXO15,TIMM21,CYB5A,CNDP2,LINC00909,ZADH2,SMIM21,LINC01898,C18orf65,LINC01927,LINC01879,GALR1,SALL3,KCNG2,PQLC1,HSBP1L1,TXNL4A,RBFA,ADNP2,PARD6G-AS1,THOC1,COLEC12,TYMSOS,YES1,LINC00470,SMCHD1,EMILIN2,MYL12B,EPB41L3,MIR3976HG,LINC01387,ARHGAP28,LAMA1,MTCL1,ANKRD12,PPP4R1,RAB31,RN7SL862P,LINC01887,PIEZO2,GNAL,TUBB6,PSMG2,PTPN2,SEH1L,CEP192,RNMT,MC2R,NF1P5,ANKRD30B,GREB1L,SNRPD1,MIB1,RBBP8,CABLES1,TMEM241,RIOK3,LAMA3,OSBPL1A,LINC01915,SS18,TAF4B,KCTD1,AQP4-AS1,CHST9,CDH2,DSC2,DSG1,TTR,TRAPPC8,RNF138,GAREM1,KLHL14,CCDC178,ASXL3,NOL4,MAPRE2,ZNF397,ZSCAN30,RPRD1A,ELP2,KIAA1328,CELF4,KC6,PIK3C3,LINC00907,LINC01478,SETBP1,SLC14A2,SLC14A2-AS1,SLC14A1,EPG5,PSTPIP2,RNF165,LOXHD1,KATNAL2,MIR4527HG,SMAD2,CTIF,ACAA2,MYO5B,MAPK4,ELAC1,RAB27B,CCDC68,LINC01539,WDR7,BOD1L2,NEDD4L,ALPK2,ZNF532,CCBE1,CDH20,PIGN,RELCH,TNFRSF11A,BCL2,SERPINB11,LINC01924,LINC00305,LINC01538,CDH7,CDH19,TMX3,CCDC102B,DOK6,CD226,RTTN,GTSCR1,LINC01541,CBLN2,NETO1,C18orf63,CNDP1,ZNF407,TSHZ1,ZNF516,ZNF236-DT,ZNF236,MBP,LINC01029,ATP9B,NFATC1,RBFADN,PARD6G,MYOM1,DLGAP1,LINC00667,L3MBTL4,APCDD1,SPIRE1,LDLRAD4,ROCK1,LINC01900,TTC39C,DSG3,DTNA,GALNT1,FHOD3,LINC01901,LINC01902,RIT2,ZBTB7C,DYM,LINC01630,DCC,TCF4,TXNL1,ATP8B1,RNF152,PHLPP1,HMSD,LINC00908,CTDP1,PTPRM,ZNF521,MALT1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002299
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR8078,LINC01925,CETN1,RN7SKP146,RNU1-109P,BOLA2P1,ADCYAP1,LINC01904,COX6CP3,RN7SKP72,KATNBL1P3,RNU6-340P,SNRPCP4,RNU7-25P,MYL12A,LINC01895,RPL31P59,IGLJCOR18,RPL21P127,BOD1P1,RN7SL39P,DLGAP1-AS1,MIR6718,RNU6-831P,GAPDHP66,PPIAP14,BOD1P2,LINC00526,MIR3976,TMEM200C,RNU5F-3P,MIR4317,RNU6-349P,RPL6P27,RN7SL282P,LINC00668,SCML2P1,RNU6-916P,SLC25A51P2,LRRC30,RFWD2P1,RN7SL50P,AKR1B1P6,TOMM20P3,RPS4XP19,RNU2-27P,RNU6-903P,KRT18P8,ZNF415P1,RNA5SP449,PIGPP4,TXNDC2,RNA5SP450,LINC01254,CCDC58P1,PMM2P1,KIAA0895LP1,MIR6788,LINC01928,SLC35G4,MIR7153,CHMP1B,CHMP1B-AS1,RNU6-324P,SDHDP1,CCDC58P3,PPIAP56,RNU6-170P,RNU7-129P,STK25P1,EIF4A2P1,C18orf15,LDLRAD4-AS1,MIR5190,MIR4526,RN7SL362P,MC5R,FRG2LP,RNU6-316P,RHOT1P1,CYP4F35P,TERF1P2,FEM1AP2,GRAMD4P7,RNU6-1021P,OR4K7P,OR4K8P,VN1R74P,RNU6-1210P,MIR3156-2,LINC01906,FGF7P1,LINC01444,BNIP3P3,RNU6-721P,RNU6-120P,EXOGP1,MIR320C1,RN7SL233P,MIR133A1HG,MIR133A1,MIR1-2,RNU6-1038P,RNA5SP451,RNU6ATAC20P,RNU6-702P,CTAGE1,RPS4XP18,RNU6-1032P,UBE2CP2,MIR4741,RN7SL745P,RPS10P27,RPL23AP77,RNU5A-6P,RNA5SP452,RNU6-435P,MIR320C2,EIF4A3P1,RAC1P1,PPIAP57,WBP2P1,RN7SL97P,RPS24P18,DHFRP1,NPM1P2,SINHCAFP1,RNU6-1289P,LINC01543,MIR8057,CIAPIN1P,UBA52P9,RBM22P1,PA2G4P3,ARIH2P1,RNU6-408P,MIR302F,RNU6-857P,RNU6-167P,RN7SKP44,LRRC37A7P,SLC25A52,RNU6-1050P,PGDP1,RNA5SP453,CLUHP6,HNRNPA1P7,WBP11P1,MIR3975,NRBF2P1,MIR187,MIR3929,MIR4318,RPL12P40,RN7SKP182,RNU6-706P,RPL7AP66,MIR924,MIR5583-2,MIR5583-1,RNU6-1242P,RPL17P45,RNA5SP454,RNA5SP455,KRT8P5,MLECP1,MIR4319,RNY4P37,RNU6-1278P,ELOA3D,ELOA3C,ELOA3B,ELOA3,ELOA2,RNU6-1131P,MIR4527,TPMTP1,MTCO2P2,RNU6-708P,C18orf12,RNA5SP456,POLR3GP2,MIR4743,MIR4744,PRR13P4,RPL17-C18orf32,MIR1539,RPL17,SNORD58C,SNORD58A,SNORD58B,SMUG1P1,SCARNA17,RNA5SP457,ADAD1P2,MIR4320,RN7SL310P,MBD1,RNA5SP458,RPLP0P11,HNRNPA3P16,RPL17P46,SRSF10P1,RNU1-46P,SS18L2P2,RSL24D1P9,RPS8P3,VN1R76P,MIR4528,RPL29P32,SNORA37,SNRPGP2,RPSAP57,MAP1LC3P,RNA5SP459,MIR4529,RPL21P126,LINC01415,LINC02565,RNU6-737P,RNU6-742P,RSL24D1P11,LINC01897,HMGN1P30,MIR122HG,MIR122,MIR3591,SNORA108,RPL9P31,MRPL37P1,RNU6-219P,RNU2-69P,RAX,RPS26P54,GLUD1P4,PMAIP1,NFE2L3P1,RN7SL342P,SDCCAG3P1,SINHCAFP2,RNU6-567P,RPS3AP49,RNU4-17P,MC4R,MRPS5P4,CTBP2P3,HMGN1P31,RNU6-116P,RPL30P14,RPIAP1,RPL17P44,ACTBP9,RN7SL705P,RNU6-142P,ATP5MC1P6,SERPINB12,SERPINB4,SERPINB3,RPL12P39,PRPF19P1,RNU6-1037P,MIR5011,RPL31P9,DSEL,LINC01912,AKR1B10P2,RNU6-39P,SDHCP1,LINC01910,LARP7P3,RPS2P6,RN7SL795P,HNRNPA1P11,RNA5SP460,MIR548AV,RN7SL401P,RN7SL551P,FAUP1,LINC01922,LINC01893,LINC00683,ARL2BPP1,CCND3P2,RNU6-346P,RPL26P35,BDP1P,RNA5SP461,RNU6-655P,LINC01896,SLC25A6P4,IL9RP4,ROCK1P1,USP14,CLUL1,TYMS,ENOSF1,METTL4,NDC80,CBX3P2,LPIN2,TGIF1,GAPLINC,DLGAP1-AS2,DLGAP1-AS3,DLGAP1-AS4,DLGAP1-AS5,LINC01892,AKAIN1,ZBTB14,L3MBTL4-AS1,THEMIS3P,RAB12,GACAT2,NDUFV2,NDUFV2-AS1,TWSG1,RALBP1,PPP4R1-AS1,VAPA,NAPG,LINC01255,NPIPB1P,ASNSP6,MPPE1,IMPA2,ANKRD62,CIDEA,AFG3L2,PRELID3A,CEP76,FAM210A,ZNF519,ANKRD20A5P,LONRF2P1,CXADRP3,POTEC,SNX19P3,GTF2IP8,LINC01443,ESCO1,ABHD3,GATA6-AS1,GATA6,RMC1,NPC1,ANKRD29,TTC39C-AS1,CABYR,IMPACT,HRH4,LINC01894,PSMA8,PCAT18,AQP4,LINC01908,DSC3,DSCAS,DSC1,DSG1-AS1,DSG4,DSG2,DSG2-AS1,B4GALT6,RNF125,MEP1B,ZNF271P,ZNF24,ZNF396,INO80C,C18orf21,SLC39A6,MOCOS,TPGS2,LINC01477,SYT4,SIGLEC15,RN7SKP26,ATP5F1A,HAUS1,C18orf25,ST8SIA5,PIAS2,HDHD2,IER3IP1,SKOR2,SMAD7,C18orf32,SRP72P1,LIPG,SNHG22,CFAP53,CXXC1,SKA1,MRO,ME2,SMAD4,MEX3C,LINC01917,LINC01919,MBD2,POLI,STARD6,C18orf54,DYNAP,LINC01929,TCF4-AS1,TCF4-AS2,LINC01416,LINC01905,WDR7-OT1,LINC-ROR,ST8SIA3,ONECUT2,FECH,NARS,LINC01926,OACYLP,SEC11C,GRP,CPLX4,LMAN1,LINC01544,ZCCHC2,KDSR,VPS4B,SERPINB5,SERPINB13,SERPINB7,SERPINB2,SERPINB10,SERPINB8,LINC01916,LINC01903,SOCS6,LINC01909,LIVAR,LINC01899,LINC02582,FBXO15,TIMM21,CYB5A,CNDP2,LINC00909,ZADH2,SMIM21,LINC01898,C18orf65,LINC01927,LINC01879,GALR1,SALL3,KCNG2,PQLC1,HSBP1L1,TXNL4A,RBFA,ADNP2,PARD6G-AS1,THOC1,COLEC12,TYMSOS,YES1,LINC00470,SMCHD1,EMILIN2,MYL12B,EPB41L3,MIR3976HG,LINC01387,ARHGAP28,LAMA1,MTCL1,ANKRD12,PPP4R1,RAB31,RN7SL862P,LINC01887,PIEZO2,GNAL,TUBB6,PSMG2,PTPN2,SEH1L,CEP192,RNMT,MC2R,NF1P5,ANKRD30B,GREB1L,SNRPD1,MIB1,RBBP8,CABLES1,TMEM241,RIOK3,LAMA3,OSBPL1A,LINC01915,SS18,TAF4B,KCTD1,AQP4-AS1,CHST9,CDH2,DSC2,DSG1,TTR,TRAPPC8,RNF138,GAREM1,KLHL14,CCDC178,ASXL3,NOL4,MAPRE2,ZNF397,ZSCAN30,RPRD1A,ELP2,KIAA1328,CELF4,KC6,PIK3C3,LINC00907,LINC01478,SETBP1,SLC14A2,SLC14A2-AS1,SLC14A1,EPG5,PSTPIP2,RNF165,LOXHD1,KATNAL2,MIR4527HG,SMAD2,CTIF,ACAA2,MYO5B,MAPK4,ELAC1,RAB27B,CCDC68,LINC01539,WDR7,BOD1L2,NEDD4L,ALPK2,ZNF532,CCBE1,CDH20,PIGN,RELCH,TNFRSF11A,BCL2,SERPINB11,LINC01924,LINC00305,LINC01538,CDH7,CDH19,TMX3,CCDC102B,DOK6,CD226,RTTN,GTSCR1,LINC01541,CBLN2,NETO1,C18orf63,CNDP1,ZNF407,TSHZ1,ZNF516,ZNF236-DT,ZNF236,MBP,LINC01029,ATP9B,NFATC1,RBFADN,PARD6G,MYOM1,DLGAP1,LINC00667,L3MBTL4,APCDD1,SPIRE1,LDLRAD4,ROCK1,LINC01900,TTC39C,DSG3,DTNA,GALNT1,FHOD3,LINC01901,LINC01902,RIT2,ZBTB7C,DYM,LINC01630,DCC,TCF4,TXNL1,ATP8B1,RNF152,PHLPP1,HMSD,LINC00908,CTDP1,PTPRM,ZNF521,MALT1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003815
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC01925,CETN1,RN7SKP146,RNU1-109P,BOLA2P1,ADCYAP1,LINC01904,COX6CP3,RN7SKP72,KATNBL1P3,RNU6-340P,SNRPCP4,RNU7-25P,MYL12A,LINC01895,RPL31P59,IGLJCOR18,RPL21P127,BOD1P1,RN7SL39P,DLGAP1-AS1,MIR6718,RNU6-831P,GAPDHP66,PPIAP14,BOD1P2,LINC00526,MIR3976,TMEM200C,RNU5F-3P,MIR4317,RNU6-349P,RPL6P27,RN7SL282P,LINC00668,SCML2P1,RNU6-916P,SLC25A51P2,LRRC30,RFWD2P1,RN7SL50P,AKR1B1P6,TOMM20P3,RPS4XP19,RNU2-27P,RNU6-903P,KRT18P8,ZNF415P1,RNA5SP449,PIGPP4,TXNDC2,RNA5SP450,LINC01254,CCDC58P1,PMM2P1,KIAA0895LP1,MIR6788,LINC01928,SLC35G4,MIR7153,CHMP1B,CHMP1B-AS1,RNU6-324P,SDHDP1,CCDC58P3,PPIAP56,RNU6-170P,RNU7-129P,STK25P1,EIF4A2P1,C18orf15,LDLRAD4-AS1,MIR5190,MIR4526,RN7SL362P,MC5R,FRG2LP,RNU6-316P,RHOT1P1,CYP4F35P,TERF1P2,FEM1AP2,GRAMD4P7,RNU6-1021P,OR4K7P,OR4K8P,VN1R74P,RNU6-1210P,MIR3156-2,LINC01906,FGF7P1,LINC01444,BNIP3P3,RNU6-721P,RNU6-120P,EXOGP1,MIR320C1,RN7SL233P,MIR133A1HG,MIR133A1,MIR1-2,RNU6-1038P,RNA5SP451,RNU6ATAC20P,RNU6-702P,CTAGE1,RPS4XP18,RNU6-1032P,UBE2CP2,MIR4741,RN7SL745P,RPS10P27,RPL23AP77,RNU5A-6P,RNA5SP452,RNU6-435P,MIR320C2,EIF4A3P1,RAC1P1,PPIAP57,WBP2P1,RN7SL97P,RPS24P18,DHFRP1,NPM1P2,SINHCAFP1,RNU6-1289P,LINC01543,MIR8057,CIAPIN1P,UBA52P9,RBM22P1,PA2G4P3,ARIH2P1,RNU6-408P,MIR302F,RNU6-857P,RNU6-167P,RN7SKP44,LRRC37A7P,SLC25A52,RNU6-1050P,PGDP1,RNA5SP453,CLUHP6,HNRNPA1P7,WBP11P1,MIR3975,NRBF2P1,MIR187,MIR3929,MIR4318,RPL12P40,RN7SKP182,RNU6-706P,RPL7AP66,MIR924,MIR5583-2,MIR5583-1,RNU6-1242P,RPL17P45,RNA5SP454,RNA5SP455,KRT8P5,MLECP1,MIR4319,RNY4P37,RNU6-1278P,ELOA3D,ELOA3C,ELOA3B,ELOA3,ELOA2,RNU6-1131P,MIR4527,TPMTP1,MTCO2P2,RNU6-708P,C18orf12,RNA5SP456,POLR3GP2,MIR4743,MIR4744,PRR13P4,RPL17-C18orf32,MIR1539,RPL17,SNORD58C,SNORD58A,SNORD58B,SMUG1P1,SCARNA17,RNA5SP457,ADAD1P2,MIR4320,RN7SL310P,MBD1,RNA5SP458,RPLP0P11,HNRNPA3P16,RPL17P46,SRSF10P1,RNU1-46P,SS18L2P2,RSL24D1P9,RPS8P3,VN1R76P,MIR4528,RPL29P32,SNORA37,SNRPGP2,RPSAP57,MAP1LC3P,RNA5SP459,MIR4529,RPL21P126,LINC01415,LINC02565,RNU6-737P,RNU6-742P,RSL24D1P11,LINC01897,HMGN1P30,MIR122HG,MIR122,MIR3591,SNORA108,RPL9P31,MRPL37P1,RNU6-219P,RNU2-69P,RAX,RPS26P54,GLUD1P4,PMAIP1,NFE2L3P1,RN7SL342P,SDCCAG3P1,SINHCAFP2,RNU6-567P,RPS3AP49,RNU4-17P,MC4R,MRPS5P4,CTBP2P3,HMGN1P31,RNU6-116P,RPL30P14,RPIAP1,RPL17P44,ACTBP9,RN7SL705P,RNU6-142P,ATP5MC1P6,SERPINB12,SERPINB4,SERPINB3,RPL12P39,PRPF19P1,RNU6-1037P,MIR5011,RPL31P9,DSEL,LINC01912,AKR1B10P2,RNU6-39P,SDHCP1,LINC01910,LARP7P3,RPS2P6,RN7SL795P,HNRNPA1P11,RNA5SP460,MIR548AV,RN7SL401P,RN7SL551P,FAUP1,LINC01922,LINC01893,LINC00683,ARL2BPP1,CCND3P2,RNU6-346P,RPL26P35,BDP1P,RNA5SP461,RNU6-655P,LINC01896,SLC25A6P4,USP14,CLUL1,TYMS,ENOSF1,METTL4,NDC80,CBX3P2,LPIN2,TGIF1,GAPLINC,DLGAP1-AS2,DLGAP1-AS3,DLGAP1-AS4,DLGAP1-AS5,LINC01892,AKAIN1,ZBTB14,L3MBTL4-AS1,THEMIS3P,RAB12,GACAT2,NDUFV2,NDUFV2-AS1,TWSG1,RALBP1,PPP4R1-AS1,VAPA,NAPG,LINC01255,NPIPB1P,ASNSP6,MPPE1,IMPA2,ANKRD62,CIDEA,AFG3L2,PRELID3A,CEP76,FAM210A,ZNF519,ANKRD20A5P,LONRF2P1,CXADRP3,POTEC,SNX19P3,GTF2IP8,LINC01443,ESCO1,ABHD3,GATA6-AS1,GATA6,RMC1,NPC1,ANKRD29,TTC39C-AS1,CABYR,IMPACT,HRH4,LINC01894,PSMA8,PCAT18,AQP4,LINC01908,DSC3,DSCAS,DSC1,DSG1-AS1,DSG4,DSG2,DSG2-AS1,B4GALT6,RNF125,MEP1B,ZNF271P,ZNF24,ZNF396,INO80C,C18orf21,SLC39A6,MOCOS,TPGS2,LINC01477,SYT4,SIGLEC15,RN7SKP26,ATP5F1A,HAUS1,C18orf25,ST8SIA5,PIAS2,HDHD2,IER3IP1,SKOR2,SMAD7,C18orf32,SRP72P1,LIPG,SNHG22,CFAP53,CXXC1,SKA1,MRO,ME2,SMAD4,MEX3C,LINC01917,LINC01919,MBD2,POLI,STARD6,C18orf54,DYNAP,LINC01929,TCF4-AS1,TCF4-AS2,LINC01416,LINC01905,WDR7-OT1,LINC-ROR,ST8SIA3,ONECUT2,FECH,NARS,LINC01926,OACYLP,SEC11C,GRP,CPLX4,LMAN1,LINC01544,ZCCHC2,KDSR,VPS4B,SERPINB5,SERPINB13,SERPINB7,SERPINB2,SERPINB10,SERPINB8,LINC01916,LINC01903,SOCS6,LINC01909,LIVAR,LINC01899,LINC02582,FBXO15,TIMM21,CYB5A,CNDP2,LINC00909,ZADH2,SMIM21,LINC01898,C18orf65,LINC01927,LINC01879,GALR1,SALL3,KCNG2,PQLC1,HSBP1L1,TXNL4A,RBFA,ADNP2,PARD6G-AS1,THOC1,COLEC12,TYMSOS,YES1,LINC00470,SMCHD1,EMILIN2,MYL12B,EPB41L3,MIR3976HG,LINC01387,ARHGAP28,LAMA1,MTCL1,ANKRD12,PPP4R1,RAB31,RN7SL862P,LINC01887,PIEZO2,GNAL,TUBB6,PSMG2,PTPN2,SEH1L,CEP192,RNMT,MC2R,NF1P5,ANKRD30B,GREB1L,SNRPD1,MIB1,RBBP8,CABLES1,TMEM241,RIOK3,LAMA3,OSBPL1A,LINC01915,SS18,TAF4B,KCTD1,AQP4-AS1,CHST9,CDH2,DSC2,DSG1,TTR,TRAPPC8,RNF138,GAREM1,KLHL14,CCDC178,ASXL3,NOL4,MAPRE2,ZNF397,ZSCAN30,RPRD1A,ELP2,KIAA1328,CELF4,KC6,PIK3C3,LINC00907,LINC01478,SETBP1,SLC14A2,SLC14A2-AS1,SLC14A1,EPG5,PSTPIP2,RNF165,LOXHD1,KATNAL2,MIR4527HG,SMAD2,CTIF,ACAA2,MYO5B,MAPK4,ELAC1,RAB27B,CCDC68,LINC01539,WDR7,BOD1L2,NEDD4L,ALPK2,ZNF532,CCBE1,CDH20,PIGN,RELCH,TNFRSF11A,BCL2,SERPINB11,LINC01924,LINC00305,LINC01538,CDH7,CDH19,TMX3,CCDC102B,DOK6,CD226,RTTN,GTSCR1,LINC01541,CBLN2,NETO1,C18orf63,CNDP1,ZNF407,TSHZ1,ZNF516,ZNF236-DT,ZNF236,MBP,LINC01029,ATP9B,NFATC1,RBFADN,PARD6G,MYOM1,DLGAP1,LINC00667,L3MBTL4,APCDD1,SPIRE1,LDLRAD4,ROCK1,LINC01900,TTC39C,DSG3,DTNA,GALNT1,FHOD3,LINC01901,LINC01902,RIT2,ZBTB7C,DYM,LINC01630,DCC,TCF4,TXNL1,ATP8B1,RNF152,PHLPP1,HMSD,LINC00908,CTDP1,PTPRM,ZNF521,MALT1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004102
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC01925,CETN1,RN7SKP146,RNU1-109P,BOLA2P1,ADCYAP1,LINC01904,COX6CP3,RN7SKP72,KATNBL1P3,RNU6-340P,SNRPCP4,RNU7-25P,MYL12A,LINC01895,RPL31P59,IGLJCOR18,RPL21P127,BOD1P1,RN7SL39P,DLGAP1-AS1,MIR6718,RNU6-831P,GAPDHP66,PPIAP14,BOD1P2,LINC00526,MIR3976,TMEM200C,RNU5F-3P,MIR4317,RNU6-349P,RPL6P27,RN7SL282P,LINC00668,SCML2P1,RNU6-916P,SLC25A51P2,LRRC30,RFWD2P1,RN7SL50P,AKR1B1P6,TOMM20P3,RPS4XP19,RNU2-27P,RNU6-903P,KRT18P8,ZNF415P1,RNA5SP449,PIGPP4,TXNDC2,RNA5SP450,LINC01254,CCDC58P1,PMM2P1,KIAA0895LP1,MIR6788,LINC01928,SLC35G4,MIR7153,CHMP1B,CHMP1B-AS1,RNU6-324P,SDHDP1,CCDC58P3,PPIAP56,RNU6-170P,RNU7-129P,STK25P1,EIF4A2P1,C18orf15,LDLRAD4-AS1,MIR5190,MIR4526,RN7SL362P,MC5R,FRG2LP,RNU6-316P,RHOT1P1,CYP4F35P,TERF1P2,FEM1AP2,GRAMD4P7,RNU6-1021P,OR4K7P,OR4K8P,VN1R74P,RNU6-1210P,MIR3156-2,LINC01906,FGF7P1,LINC01444,BNIP3P3,RNU6-721P,RNU6-120P,EXOGP1,MIR320C1,RN7SL233P,MIR133A1HG,MIR133A1,MIR1-2,RNU6-1038P,RNA5SP451,RNU6ATAC20P,RNU6-702P,CTAGE1,RPS4XP18,RNU6-1032P,UBE2CP2,MIR4741,RN7SL745P,RPS10P27,RPL23AP77,RNU5A-6P,RNA5SP452,RNU6-435P,MIR320C2,EIF4A3P1,RAC1P1,PPIAP57,WBP2P1,RN7SL97P,RPS24P18,DHFRP1,NPM1P2,SINHCAFP1,RNU6-1289P,LINC01543,MIR8057,CIAPIN1P,UBA52P9,RBM22P1,PA2G4P3,ARIH2P1,RNU6-408P,MIR302F,RNU6-857P,RNU6-167P,RN7SKP44,LRRC37A7P,SLC25A52,RNU6-1050P,PGDP1,RNA5SP453,CLUHP6,HNRNPA1P7,WBP11P1,MIR3975,NRBF2P1,MIR187,MIR3929,MIR4318,RPL12P40,RN7SKP182,RNU6-706P,RPL7AP66,MIR924,MIR5583-2,MIR5583-1,RNU6-1242P,RPL17P45,RNA5SP454,RNA5SP455,KRT8P5,MLECP1,MIR4319,RNY4P37,RNU6-1278P,ELOA3D,ELOA3C,ELOA3B,ELOA3,ELOA2,RNU6-1131P,MIR4527,TPMTP1,MTCO2P2,RNU6-708P,C18orf12,RNA5SP456,POLR3GP2,MIR4743,MIR4744,PRR13P4,RPL17-C18orf32,MIR1539,RPL17,SNORD58C,SNORD58A,SNORD58B,SMUG1P1,SCARNA17,RNA5SP457,ADAD1P2,MIR4320,RN7SL310P,MBD1,RNA5SP458,RPLP0P11,HNRNPA3P16,RPL17P46,SRSF10P1,RNU1-46P,SS18L2P2,RSL24D1P9,RPS8P3,VN1R76P,MIR4528,RPL29P32,SNORA37,SNRPGP2,RPSAP57,MAP1LC3P,RNA5SP459,MIR4529,RPL21P126,LINC01415,LINC02565,RNU6-737P,RNU6-742P,RSL24D1P11,LINC01897,HMGN1P30,MIR122HG,MIR122,MIR3591,SNORA108,RPL9P31,MRPL37P1,RNU6-219P,RNU2-69P,RAX,RPS26P54,GLUD1P4,PMAIP1,NFE2L3P1,RN7SL342P,SDCCAG3P1,SINHCAFP2,RNU6-567P,RPS3AP49,RNU4-17P,MC4R,MRPS5P4,CTBP2P3,HMGN1P31,RNU6-116P,RPL30P14,RPIAP1,RPL17P44,ACTBP9,RN7SL705P,RNU6-142P,ATP5MC1P6,SERPINB12,SERPINB4,SERPINB3,RPL12P39,PRPF19P1,RNU6-1037P,MIR5011,RPL31P9,DSEL,LINC01912,AKR1B10P2,RNU6-39P,SDHCP1,LINC01910,LARP7P3,RPS2P6,RN7SL795P,HNRNPA1P11,RNA5SP460,MIR548AV,RN7SL401P,RN7SL551P,FAUP1,LINC01922,LINC01893,LINC00683,ARL2BPP1,CCND3P2,RNU6-346P,RPL26P35,BDP1P,RNA5SP461,RNU6-655P,LINC01896,SLC25A6P4,USP14,CLUL1,TYMS,ENOSF1,METTL4,NDC80,CBX3P2,LPIN2,TGIF1,GAPLINC,DLGAP1-AS2,DLGAP1-AS3,DLGAP1-AS4,DLGAP1-AS5,LINC01892,AKAIN1,ZBTB14,L3MBTL4-AS1,THEMIS3P,RAB12,GACAT2,NDUFV2,NDUFV2-AS1,TWSG1,RALBP1,PPP4R1-AS1,VAPA,NAPG,LINC01255,NPIPB1P,ASNSP6,MPPE1,IMPA2,ANKRD62,CIDEA,AFG3L2,PRELID3A,CEP76,FAM210A,ZNF519,ANKRD20A5P,LONRF2P1,CXADRP3,POTEC,SNX19P3,GTF2IP8,LINC01443,ESCO1,ABHD3,GATA6-AS1,GATA6,RMC1,NPC1,ANKRD29,TTC39C-AS1,CABYR,IMPACT,HRH4,LINC01894,PSMA8,PCAT18,AQP4,LINC01908,DSC3,DSCAS,DSC1,DSG1-AS1,DSG4,DSG2,DSG2-AS1,B4GALT6,RNF125,MEP1B,ZNF271P,ZNF24,ZNF396,INO80C,C18orf21,SLC39A6,MOCOS,TPGS2,LINC01477,SYT4,SIGLEC15,RN7SKP26,ATP5F1A,HAUS1,C18orf25,ST8SIA5,PIAS2,HDHD2,IER3IP1,SKOR2,SMAD7,C18orf32,SRP72P1,LIPG,SNHG22,CFAP53,CXXC1,SKA1,MRO,ME2,SMAD4,MEX3C,LINC01917,LINC01919,MBD2,POLI,STARD6,C18orf54,DYNAP,LINC01929,TCF4-AS1,TCF4-AS2,LINC01416,LINC01905,WDR7-OT1,LINC-ROR,ST8SIA3,ONECUT2,FECH,NARS,LINC01926,OACYLP,SEC11C,GRP,CPLX4,LMAN1,LINC01544,ZCCHC2,KDSR,VPS4B,SERPINB5,SERPINB13,SERPINB7,SERPINB2,SERPINB10,SERPINB8,LINC01916,LINC01903,SOCS6,LINC01909,LIVAR,LINC01899,LINC02582,FBXO15,TIMM21,CYB5A,CNDP2,LINC00909,ZADH2,SMIM21,LINC01898,C18orf65,LINC01927,LINC01879,GALR1,SALL3,KCNG2,PQLC1,HSBP1L1,TXNL4A,RBFA,ADNP2,PARD6G-AS1,THOC1,COLEC12,TYMSOS,YES1,LINC00470,SMCHD1,EMILIN2,MYL12B,EPB41L3,MIR3976HG,LINC01387,ARHGAP28,LAMA1,MTCL1,ANKRD12,PPP4R1,RAB31,RN7SL862P,LINC01887,PIEZO2,GNAL,TUBB6,PSMG2,PTPN2,SEH1L,CEP192,RNMT,MC2R,NF1P5,ANKRD30B,GREB1L,SNRPD1,MIB1,RBBP8,CABLES1,TMEM241,RIOK3,LAMA3,OSBPL1A,LINC01915,SS18,TAF4B,KCTD1,AQP4-AS1,CHST9,CDH2,DSC2,DSG1,TTR,TRAPPC8,RNF138,GAREM1,KLHL14,CCDC178,ASXL3,NOL4,MAPRE2,ZNF397,ZSCAN30,RPRD1A,ELP2,KIAA1328,CELF4,KC6,PIK3C3,LINC00907,LINC01478,SETBP1,SLC14A2,SLC14A2-AS1,SLC14A1,EPG5,PSTPIP2,RNF165,LOXHD1,KATNAL2,MIR4527HG,SMAD2,CTIF,ACAA2,MYO5B,MAPK4,ELAC1,RAB27B,CCDC68,LINC01539,WDR7,BOD1L2,NEDD4L,ALPK2,ZNF532,CCBE1,CDH20,PIGN,RELCH,TNFRSF11A,BCL2,SERPINB11,LINC01924,LINC00305,LINC01538,CDH7,CDH19,TMX3,CCDC102B,DOK6,CD226,RTTN,GTSCR1,LINC01541,CBLN2,NETO1,C18orf63,CNDP1,ZNF407,TSHZ1,ZNF516,ZNF236-DT,ZNF236,MBP,LINC01029,ATP9B,NFATC1,RBFADN,PARD6G,MYOM1,DLGAP1,LINC00667,L3MBTL4,APCDD1,SPIRE1,LDLRAD4,ROCK1,LINC01900,TTC39C,DSG3,DTNA,GALNT1,FHOD3,LINC01901,LINC01902,RIT2,ZBTB7C,DYM,LINC01630,DCC,TCF4,TXNL1,ATP8B1,RNF152,PHLPP1,HMSD,LINC00908,CTDP1,PTPRM,ZNF521,MALT1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004781
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC01925,CETN1,RN7SKP146,RNU1-109P,BOLA2P1,ADCYAP1,LINC01904,COX6CP3,RN7SKP72,KATNBL1P3,RNU6-340P,SNRPCP4,RNU7-25P,MYL12A,LINC01895,RPL31P59,IGLJCOR18,RPL21P127,BOD1P1,RN7SL39P,DLGAP1-AS1,MIR6718,RNU6-831P,GAPDHP66,PPIAP14,BOD1P2,LINC00526,MIR3976,TMEM200C,RNU5F-3P,MIR4317,RNU6-349P,RPL6P27,RN7SL282P,LINC00668,SCML2P1,RNU6-916P,SLC25A51P2,LRRC30,RFWD2P1,RN7SL50P,AKR1B1P6,TOMM20P3,RPS4XP19,RNU2-27P,RNU6-903P,KRT18P8,ZNF415P1,RNA5SP449,PIGPP4,TXNDC2,RNA5SP450,LINC01254,CCDC58P1,PMM2P1,KIAA0895LP1,MIR6788,LINC01928,SLC35G4,MIR7153,CHMP1B,CHMP1B-AS1,RNU6-324P,SDHDP1,CCDC58P3,PPIAP56,RNU6-170P,RNU7-129P,STK25P1,EIF4A2P1,C18orf15,LDLRAD4-AS1,MIR5190,MIR4526,RN7SL362P,MC5R,FRG2LP,RNU6-316P,RHOT1P1,CYP4F35P,TERF1P2,FEM1AP2,GRAMD4P7,RNU6-1021P,OR4K7P,OR4K8P,VN1R74P,RNU6-1210P,MIR3156-2,LINC01906,FGF7P1,LINC01444,BNIP3P3,RNU6-721P,RNU6-120P,EXOGP1,MIR320C1,RN7SL233P,MIR133A1HG,MIR133A1,MIR1-2,RNU6-1038P,RNA5SP451,RNU6ATAC20P,RNU6-702P,CTAGE1,RPS4XP18,RNU6-1032P,UBE2CP2,MIR4741,RN7SL745P,RPS10P27,RPL23AP77,RNU5A-6P,RNA5SP452,RNU6-435P,MIR320C2,EIF4A3P1,RAC1P1,PPIAP57,WBP2P1,RN7SL97P,RPS24P18,DHFRP1,NPM1P2,SINHCAFP1,RNU6-1289P,LINC01543,MIR8057,CIAPIN1P,UBA52P9,RBM22P1,PA2G4P3,ARIH2P1,RNU6-408P,MIR302F,RNU6-857P,RNU6-167P,RN7SKP44,LRRC37A7P,SLC25A52,RNU6-1050P,PGDP1,RNA5SP453,CLUHP6,HNRNPA1P7,WBP11P1,MIR3975,NRBF2P1,MIR187,MIR3929,MIR4318,RPL12P40,RN7SKP182,RNU6-706P,RPL7AP66,MIR924,MIR5583-2,MIR5583-1,RNU6-1242P,RPL17P45,RNA5SP454,RNA5SP455,KRT8P5,MLECP1,MIR4319,RNY4P37,RNU6-1278P,ELOA3D,ELOA3C,ELOA3B,ELOA3,ELOA2,RNU6-1131P,MIR4527,TPMTP1,MTCO2P2,RNU6-708P,C18orf12,RNA5SP456,POLR3GP2,MIR4743,MIR4744,PRR13P4,RPL17-C18orf32,MIR1539,RPL17,SNORD58C,SNORD58A,SNORD58B,SMUG1P1,SCARNA17,RNA5SP457,ADAD1P2,MIR4320,RN7SL310P,MBD1,RNA5SP458,RPLP0P11,HNRNPA3P16,RPL17P46,SRSF10P1,RNU1-46P,SS18L2P2,RSL24D1P9,RPS8P3,VN1R76P,MIR4528,RPL29P32,SNORA37,SNRPGP2,RPSAP57,MAP1LC3P,RNA5SP459,MIR4529,RPL21P126,LINC01415,LINC02565,RNU6-737P,RNU6-742P,RSL24D1P11,LINC01897,HMGN1P30,MIR122HG,MIR122,MIR3591,SNORA108,RPL9P31,MRPL37P1,RNU6-219P,RNU2-69P,RAX,RPS26P54,GLUD1P4,PMAIP1,NFE2L3P1,RN7SL342P,SDCCAG3P1,SINHCAFP2,RNU6-567P,RPS3AP49,RNU4-17P,MC4R,MRPS5P4,CTBP2P3,HMGN1P31,RNU6-116P,RPL30P14,RPIAP1,RPL17P44,ACTBP9,RN7SL705P,RNU6-142P,ATP5MC1P6,SERPINB12,SERPINB4,SERPINB3,RPL12P39,PRPF19P1,RNU6-1037P,MIR5011,RPL31P9,DSEL,LINC01912,AKR1B10P2,RNU6-39P,SDHCP1,LINC01910,LARP7P3,RPS2P6,RN7SL795P,HNRNPA1P11,RNA5SP460,MIR548AV,RN7SL401P,RN7SL551P,FAUP1,LINC01922,LINC01893,LINC00683,ARL2BPP1,CCND3P2,RNU6-346P,RPL26P35,BDP1P,RNA5SP461,RNU6-655P,LINC01896,SLC25A6P4,USP14,CLUL1,TYMS,ENOSF1,METTL4,NDC80,CBX3P2,LPIN2,TGIF1,GAPLINC,DLGAP1-AS2,DLGAP1-AS3,DLGAP1-AS4,DLGAP1-AS5,LINC01892,AKAIN1,ZBTB14,L3MBTL4-AS1,THEMIS3P,RAB12,GACAT2,NDUFV2,NDUFV2-AS1,TWSG1,RALBP1,PPP4R1-AS1,VAPA,NAPG,LINC01255,NPIPB1P,ASNSP6,MPPE1,IMPA2,ANKRD62,CIDEA,AFG3L2,PRELID3A,CEP76,FAM210A,ZNF519,ANKRD20A5P,LONRF2P1,CXADRP3,POTEC,SNX19P3,GTF2IP8,LINC01443,ESCO1,ABHD3,GATA6-AS1,GATA6,RMC1,NPC1,ANKRD29,TTC39C-AS1,CABYR,IMPACT,HRH4,LINC01894,PSMA8,PCAT18,AQP4,LINC01908,DSC3,DSCAS,DSC1,DSG1-AS1,DSG4,DSG2,DSG2-AS1,B4GALT6,RNF125,MEP1B,ZNF271P,ZNF24,ZNF396,INO80C,C18orf21,SLC39A6,MOCOS,TPGS2,LINC01477,SYT4,SIGLEC15,RN7SKP26,ATP5F1A,HAUS1,C18orf25,ST8SIA5,PIAS2,HDHD2,IER3IP1,SKOR2,SMAD7,C18orf32,SRP72P1,LIPG,SNHG22,CFAP53,CXXC1,SKA1,MRO,ME2,SMAD4,MEX3C,LINC01917,LINC01919,MBD2,POLI,STARD6,C18orf54,DYNAP,LINC01929,TCF4-AS1,TCF4-AS2,LINC01416,LINC01905,WDR7-OT1,LINC-ROR,ST8SIA3,ONECUT2,FECH,NARS,LINC01926,OACYLP,SEC11C,GRP,CPLX4,LMAN1,LINC01544,ZCCHC2,KDSR,VPS4B,SERPINB5,SERPINB13,SERPINB7,SERPINB2,SERPINB10,SERPINB8,LINC01916,LINC01903,SOCS6,LINC01909,LIVAR,LINC01899,LINC02582,FBXO15,TIMM21,CYB5A,CNDP2,LINC00909,ZADH2,SMIM21,LINC01898,C18orf65,LINC01927,LINC01879,GALR1,SALL3,KCNG2,PQLC1,HSBP1L1,TXNL4A,RBFA,ADNP2,PARD6G-AS1,THOC1,COLEC12,TYMSOS,YES1,LINC00470,SMCHD1,EMILIN2,MYL12B,EPB41L3,MIR3976HG,LINC01387,ARHGAP28,LAMA1,MTCL1,ANKRD12,PPP4R1,RAB31,RN7SL862P,LINC01887,PIEZO2,GNAL,TUBB6,PSMG2,PTPN2,SEH1L,CEP192,RNMT,MC2R,NF1P5,ANKRD30B,GREB1L,SNRPD1,MIB1,RBBP8,CABLES1,TMEM241,RIOK3,LAMA3,OSBPL1A,LINC01915,SS18,TAF4B,KCTD1,AQP4-AS1,CHST9,CDH2,DSC2,DSG1,TTR,TRAPPC8,RNF138,GAREM1,KLHL14,CCDC178,ASXL3,NOL4,MAPRE2,ZNF397,ZSCAN30,RPRD1A,ELP2,KIAA1328,CELF4,KC6,PIK3C3,LINC00907,LINC01478,SETBP1,SLC14A2,SLC14A2-AS1,SLC14A1,EPG5,PSTPIP2,RNF165,LOXHD1,KATNAL2,MIR4527HG,SMAD2,CTIF,ACAA2,MYO5B,MAPK4,ELAC1,RAB27B,CCDC68,LINC01539,WDR7,BOD1L2,NEDD4L,ALPK2,ZNF532,CCBE1,CDH20,PIGN,RELCH,TNFRSF11A,BCL2,SERPINB11,LINC01924,LINC00305,LINC01538,CDH7,CDH19,TMX3,CCDC102B,DOK6,CD226,RTTN,GTSCR1,LINC01541,CBLN2,NETO1,C18orf63,CNDP1,ZNF407,TSHZ1,ZNF516,ZNF236-DT,ZNF236,MBP,LINC01029,ATP9B,NFATC1,RBFADN,PARD6G,MYOM1,DLGAP1,LINC00667,L3MBTL4,APCDD1,SPIRE1,LDLRAD4,ROCK1,LINC01900,TTC39C,DSG3,DTNA,GALNT1,FHOD3,LINC01901,LINC01902,RIT2,ZBTB7C,DYM,LINC01630,DCC,TCF4,TXNL1,ATP8B1,RNF152,PHLPP1,HMSD,LINC00908,CTDP1,PTPRM,ZNF521,MALT1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005197
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC01925,CETN1,RN7SKP146,RNU1-109P,BOLA2P1,ADCYAP1,LINC01904,COX6CP3,RN7SKP72,KATNBL1P3,RNU6-340P,SNRPCP4,RNU7-25P,MYL12A,LINC01895,RPL31P59,IGLJCOR18,RPL21P127,BOD1P1,RN7SL39P,DLGAP1-AS1,MIR6718,RNU6-831P,GAPDHP66,PPIAP14,BOD1P2,LINC00526,MIR3976,TMEM200C,RNU5F-3P,MIR4317,RNU6-349P,RPL6P27,RN7SL282P,LINC00668,SCML2P1,RNU6-916P,SLC25A51P2,LRRC30,RFWD2P1,RN7SL50P,AKR1B1P6,TOMM20P3,RPS4XP19,RNU2-27P,RNU6-903P,KRT18P8,ZNF415P1,RNA5SP449,PIGPP4,TXNDC2,RNA5SP450,LINC01254,CCDC58P1,PMM2P1,KIAA0895LP1,MIR6788,LINC01928,SLC35G4,MIR7153,CHMP1B,CHMP1B-AS1,RNU6-324P,SDHDP1,CCDC58P3,PPIAP56,RNU6-170P,RNU7-129P,STK25P1,EIF4A2P1,C18orf15,LDLRAD4-AS1,MIR5190,MIR4526,RN7SL362P,MC5R,FRG2LP,RNU6-316P,RHOT1P1,CYP4F35P,TERF1P2,FEM1AP2,GRAMD4P7,RNU6-1021P,OR4K7P,OR4K8P,VN1R74P,RNU6-1210P,MIR3156-2,LINC01906,FGF7P1,LINC01444,BNIP3P3,RNU6-721P,RNU6-120P,EXOGP1,MIR320C1,RN7SL233P,MIR133A1HG,MIR133A1,MIR1-2,RNU6-1038P,RNA5SP451,RNU6ATAC20P,RNU6-702P,CTAGE1,RPS4XP18,RNU6-1032P,UBE2CP2,MIR4741,RN7SL745P,RPS10P27,RPL23AP77,RNU5A-6P,RNA5SP452,RNU6-435P,MIR320C2,EIF4A3P1,RAC1P1,PPIAP57,WBP2P1,RN7SL97P,RPS24P18,DHFRP1,NPM1P2,SINHCAFP1,RNU6-1289P,LINC01543,MIR8057,CIAPIN1P,UBA52P9,RBM22P1,PA2G4P3,ARIH2P1,RNU6-408P,MIR302F,RNU6-857P,RNU6-167P,RN7SKP44,LRRC37A7P,SLC25A52,RNU6-1050P,PGDP1,RNA5SP453,CLUHP6,HNRNPA1P7,WBP11P1,MIR3975,NRBF2P1,MIR187,MIR3929,MIR4318,RPL12P40,RN7SKP182,RNU6-706P,RPL7AP66,MIR924,MIR5583-2,MIR5583-1,RNU6-1242P,RPL17P45,RNA5SP454,RNA5SP455,KRT8P5,MLECP1,MIR4319,RNY4P37,RNU6-1278P,ELOA3D,ELOA3C,ELOA3B,ELOA3,ELOA2,RNU6-1131P,MIR4527,TPMTP1,MTCO2P2,RNU6-708P,C18orf12,RNA5SP456,POLR3GP2,MIR4743,MIR4744,PRR13P4,RPL17-C18orf32,MIR1539,RPL17,SNORD58C,SNORD58A,SNORD58B,SMUG1P1,SCARNA17,RNA5SP457,ADAD1P2,MIR4320,RN7SL310P,MBD1,RNA5SP458,RPLP0P11,HNRNPA3P16,RPL17P46,SRSF10P1,RNU1-46P,SS18L2P2,RSL24D1P9,RPS8P3,VN1R76P,MIR4528,RPL29P32,SNORA37,SNRPGP2,RPSAP57,MAP1LC3P,RNA5SP459,MIR4529,RPL21P126,LINC01415,LINC02565,RNU6-737P,RNU6-742P,RSL24D1P11,LINC01897,HMGN1P30,MIR122HG,MIR122,MIR3591,SNORA108,RPL9P31,MRPL37P1,RNU6-219P,RNU2-69P,RAX,RPS26P54,GLUD1P4,PMAIP1,NFE2L3P1,RN7SL342P,SDCCAG3P1,SINHCAFP2,RNU6-567P,RPS3AP49,RNU4-17P,MC4R,MRPS5P4,CTBP2P3,HMGN1P31,RNU6-116P,RPL30P14,RPIAP1,RPL17P44,ACTBP9,RN7SL705P,RNU6-142P,ATP5MC1P6,SERPINB12,SERPINB4,SERPINB3,RPL12P39,PRPF19P1,RNU6-1037P,MIR5011,RPL31P9,DSEL,LINC01912,AKR1B10P2,RNU6-39P,SDHCP1,LINC01910,LARP7P3,RPS2P6,RN7SL795P,HNRNPA1P11,RNA5SP460,MIR548AV,RN7SL401P,RN7SL551P,FAUP1,LINC01922,LINC01893,LINC00683,ARL2BPP1,CCND3P2,RNU6-346P,RPL26P35,BDP1P,RNA5SP461,RNU6-655P,LINC01896,SLC25A6P4,USP14,CLUL1,TYMS,ENOSF1,METTL4,NDC80,CBX3P2,LPIN2,TGIF1,GAPLINC,DLGAP1-AS2,DLGAP1-AS3,DLGAP1-AS4,DLGAP1-AS5,LINC01892,AKAIN1,ZBTB14,L3MBTL4-AS1,THEMIS3P,RAB12,GACAT2,NDUFV2,NDUFV2-AS1,TWSG1,RALBP1,PPP4R1-AS1,VAPA,NAPG,LINC01255,NPIPB1P,ASNSP6,MPPE1,IMPA2,ANKRD62,CIDEA,AFG3L2,PRELID3A,CEP76,FAM210A,ZNF519,ANKRD20A5P,LONRF2P1,CXADRP3,POTEC,SNX19P3,GTF2IP8,LINC01443,ESCO1,ABHD3,GATA6-AS1,GATA6,RMC1,NPC1,ANKRD29,TTC39C-AS1,CABYR,IMPACT,HRH4,LINC01894,PSMA8,PCAT18,AQP4,LINC01908,DSC3,DSCAS,DSC1,DSG1-AS1,DSG4,DSG2,DSG2-AS1,B4GALT6,RNF125,MEP1B,ZNF271P,ZNF24,ZNF396,INO80C,C18orf21,SLC39A6,MOCOS,TPGS2,LINC01477,SYT4,SIGLEC15,RN7SKP26,ATP5F1A,HAUS1,C18orf25,ST8SIA5,PIAS2,HDHD2,IER3IP1,SKOR2,SMAD7,C18orf32,SRP72P1,LIPG,SNHG22,CFAP53,CXXC1,SKA1,MRO,ME2,SMAD4,MEX3C,LINC01917,LINC01919,MBD2,POLI,STARD6,C18orf54,DYNAP,LINC01929,TCF4-AS1,TCF4-AS2,LINC01416,LINC01905,WDR7-OT1,LINC-ROR,ST8SIA3,ONECUT2,FECH,NARS,LINC01926,OACYLP,SEC11C,GRP,CPLX4,LMAN1,LINC01544,ZCCHC2,KDSR,VPS4B,SERPINB5,SERPINB13,SERPINB7,SERPINB2,SERPINB10,SERPINB8,LINC01916,LINC01903,SOCS6,LINC01909,LIVAR,LINC01899,LINC02582,FBXO15,TIMM21,CYB5A,CNDP2,LINC00909,ZADH2,SMIM21,LINC01898,C18orf65,LINC01927,LINC01879,GALR1,SALL3,KCNG2,PQLC1,HSBP1L1,TXNL4A,RBFA,ADNP2,PARD6G-AS1,THOC1,COLEC12,TYMSOS,YES1,LINC00470,SMCHD1,EMILIN2,MYL12B,EPB41L3,MIR3976HG,LINC01387,ARHGAP28,LAMA1,MTCL1,ANKRD12,PPP4R1,RAB31,RN7SL862P,LINC01887,PIEZO2,GNAL,TUBB6,PSMG2,PTPN2,SEH1L,CEP192,RNMT,MC2R,NF1P5,ANKRD30B,GREB1L,SNRPD1,MIB1,RBBP8,CABLES1,TMEM241,RIOK3,LAMA3,OSBPL1A,LINC01915,SS18,TAF4B,KCTD1,AQP4-AS1,CHST9,CDH2,DSC2,DSG1,TTR,TRAPPC8,RNF138,GAREM1,KLHL14,CCDC178,ASXL3,NOL4,MAPRE2,ZNF397,ZSCAN30,RPRD1A,ELP2,KIAA1328,CELF4,KC6,PIK3C3,LINC00907,LINC01478,SETBP1,SLC14A2,SLC14A2-AS1,SLC14A1,EPG5,PSTPIP2,RNF165,LOXHD1,KATNAL2,MIR4527HG,SMAD2,CTIF,ACAA2,MYO5B,MAPK4,ELAC1,RAB27B,CCDC68,LINC01539,WDR7,BOD1L2,NEDD4L,ALPK2,ZNF532,CCBE1,CDH20,PIGN,RELCH,TNFRSF11A,BCL2,SERPINB11,LINC01924,LINC00305,LINC01538,CDH7,CDH19,TMX3,CCDC102B,DOK6,CD226,RTTN,GTSCR1,LINC01541,CBLN2,NETO1,C18orf63,CNDP1,ZNF407,TSHZ1,ZNF516,ZNF236-DT,ZNF236,MBP,LINC01029,ATP9B,NFATC1,RBFADN,PARD6G,MYOM1,DLGAP1,LINC00667,L3MBTL4,APCDD1,SPIRE1,LDLRAD4,ROCK1,LINC01900,TTC39C,DSG3,DTNA,GALNT1,FHOD3,LINC01901,LINC01902,RIT2,ZBTB7C,DYM,LINC01630,DCC,TCF4,TXNL1,ATP8B1,RNF152,PHLPP1,HMSD,LINC00908,CTDP1,PTPRM,ZNF521,MALT1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005337
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC01925,CETN1,RN7SKP146,RNU1-109P,BOLA2P1,ADCYAP1,LINC01904,COX6CP3,RN7SKP72,KATNBL1P3,RNU6-340P,SNRPCP4,RNU7-25P,MYL12A,LINC01895,RPL31P59,IGLJCOR18,RPL21P127,BOD1P1,RN7SL39P,DLGAP1-AS1,MIR6718,RNU6-831P,GAPDHP66,PPIAP14,BOD1P2,LINC00526,MIR3976,TMEM200C,RNU5F-3P,MIR4317,RNU6-349P,RPL6P27,RN7SL282P,LINC00668,SCML2P1,RNU6-916P,SLC25A51P2,LRRC30,RFWD2P1,RN7SL50P,AKR1B1P6,TOMM20P3,RPS4XP19,RNU2-27P,RNU6-903P,KRT18P8,ZNF415P1,RNA5SP449,PIGPP4,TXNDC2,RNA5SP450,LINC01254,CCDC58P1,PMM2P1,KIAA0895LP1,MIR6788,LINC01928,SLC35G4,MIR7153,CHMP1B,CHMP1B-AS1,RNU6-324P,SDHDP1,CCDC58P3,PPIAP56,RNU6-170P,RNU7-129P,STK25P1,EIF4A2P1,C18orf15,LDLRAD4-AS1,MIR5190,MIR4526,RN7SL362P,MC5R,FRG2LP,RNU6-316P,RHOT1P1,CYP4F35P,TERF1P2,FEM1AP2,GRAMD4P7,RNU6-1021P,OR4K7P,OR4K8P,VN1R74P,RNU6-1210P,MIR3156-2,LINC01906,FGF7P1,LINC01444,BNIP3P3,RNU6-721P,RNU6-120P,EXOGP1,MIR320C1,RN7SL233P,MIR133A1HG,MIR133A1,MIR1-2,RNU6-1038P,RNA5SP451,RNU6ATAC20P,RNU6-702P,CTAGE1,RPS4XP18,RNU6-1032P,UBE2CP2,MIR4741,RN7SL745P,RPS10P27,RPL23AP77,RNU5A-6P,RNA5SP452,RNU6-435P,MIR320C2,EIF4A3P1,RAC1P1,PPIAP57,WBP2P1,RN7SL97P,RPS24P18,DHFRP1,NPM1P2,SINHCAFP1,RNU6-1289P,LINC01543,MIR8057,CIAPIN1P,UBA52P9,RBM22P1,PA2G4P3,ARIH2P1,RNU6-408P,MIR302F,RNU6-857P,RNU6-167P,RN7SKP44,LRRC37A7P,SLC25A52,RNU6-1050P,PGDP1,RNA5SP453,CLUHP6,HNRNPA1P7,WBP11P1,MIR3975,NRBF2P1,MIR187,MIR3929,MIR4318,RPL12P40,RN7SKP182,RNU6-706P,RPL7AP66,MIR924,MIR5583-2,MIR5583-1,RNU6-1242P,RPL17P45,RNA5SP454,RNA5SP455,KRT8P5,MLECP1,MIR4319,RNY4P37,RNU6-1278P,ELOA3D,ELOA3C,ELOA3B,ELOA3,ELOA2,RNU6-1131P,MIR4527,TPMTP1,MTCO2P2,RNU6-708P,C18orf12,RNA5SP456,POLR3GP2,MIR4743,MIR4744,PRR13P4,RPL17-C18orf32,MIR1539,RPL17,SNORD58C,SNORD58A,SNORD58B,SMUG1P1,SCARNA17,RNA5SP457,ADAD1P2,MIR4320,RN7SL310P,MBD1,RNA5SP458,RPLP0P11,HNRNPA3P16,RPL17P46,SRSF10P1,RNU1-46P,SS18L2P2,RSL24D1P9,RPS8P3,VN1R76P,MIR4528,RPL29P32,SNORA37,SNRPGP2,RPSAP57,MAP1LC3P,RNA5SP459,MIR4529,RPL21P126,LINC01415,LINC02565,RNU6-737P,RNU6-742P,RSL24D1P11,LINC01897,HMGN1P30,MIR122HG,MIR122,MIR3591,SNORA108,RPL9P31,MRPL37P1,RNU6-219P,RNU2-69P,RAX,RPS26P54,GLUD1P4,PMAIP1,NFE2L3P1,RN7SL342P,SDCCAG3P1,SINHCAFP2,RNU6-567P,RPS3AP49,RNU4-17P,MC4R,MRPS5P4,CTBP2P3,HMGN1P31,RNU6-116P,RPL30P14,RPIAP1,RPL17P44,ACTBP9,RN7SL705P,RNU6-142P,ATP5MC1P6,SERPINB12,SERPINB4,SERPINB3,RPL12P39,PRPF19P1,RNU6-1037P,MIR5011,RPL31P9,DSEL,LINC01912,AKR1B10P2,RNU6-39P,SDHCP1,LINC01910,LARP7P3,RPS2P6,RN7SL795P,HNRNPA1P11,RNA5SP460,MIR548AV,RN7SL401P,RN7SL551P,FAUP1,LINC01922,LINC01893,LINC00683,ARL2BPP1,CCND3P2,RNU6-346P,RPL26P35,BDP1P,RNA5SP461,RNU6-655P,LINC01896,SLC25A6P4,USP14,CLUL1,TYMS,ENOSF1,METTL4,NDC80,CBX3P2,LPIN2,TGIF1,GAPLINC,DLGAP1-AS2,DLGAP1-AS3,DLGAP1-AS4,DLGAP1-AS5,LINC01892,AKAIN1,ZBTB14,L3MBTL4-AS1,THEMIS3P,RAB12,GACAT2,NDUFV2,NDUFV2-AS1,TWSG1,RALBP1,PPP4R1-AS1,VAPA,NAPG,LINC01255,NPIPB1P,ASNSP6,MPPE1,IMPA2,ANKRD62,CIDEA,AFG3L2,PRELID3A,CEP76,FAM210A,ZNF519,ANKRD20A5P,LONRF2P1,CXADRP3,POTEC,SNX19P3,GTF2IP8,LINC01443,ESCO1,ABHD3,GATA6-AS1,GATA6,RMC1,NPC1,ANKRD29,TTC39C-AS1,CABYR,IMPACT,HRH4,LINC01894,PSMA8,PCAT18,AQP4,LINC01908,DSC3,DSCAS,DSC1,DSG1-AS1,DSG4,DSG2,DSG2-AS1,B4GALT6,RNF125,MEP1B,ZNF271P,ZNF24,ZNF396,INO80C,C18orf21,SLC39A6,MOCOS,TPGS2,LINC01477,SYT4,SIGLEC15,RN7SKP26,ATP5F1A,HAUS1,C18orf25,ST8SIA5,PIAS2,HDHD2,IER3IP1,SKOR2,SMAD7,C18orf32,SRP72P1,LIPG,SNHG22,CFAP53,CXXC1,SKA1,MRO,ME2,SMAD4,MEX3C,LINC01917,LINC01919,MBD2,POLI,STARD6,C18orf54,DYNAP,LINC01929,TCF4-AS1,TCF4-AS2,LINC01416,LINC01905,WDR7-OT1,LINC-ROR,ST8SIA3,ONECUT2,FECH,NARS,LINC01926,OACYLP,SEC11C,GRP,CPLX4,LMAN1,LINC01544,ZCCHC2,KDSR,VPS4B,SERPINB5,SERPINB13,SERPINB7,SERPINB2,SERPINB10,SERPINB8,LINC01916,LINC01903,SOCS6,LINC01909,LIVAR,LINC01899,LINC02582,FBXO15,TIMM21,CYB5A,CNDP2,LINC00909,ZADH2,SMIM21,LINC01898,C18orf65,LINC01927,LINC01879,GALR1,SALL3,KCNG2,PQLC1,HSBP1L1,TXNL4A,RBFA,ADNP2,PARD6G-AS1,THOC1,COLEC12,TYMSOS,YES1,LINC00470,SMCHD1,EMILIN2,MYL12B,EPB41L3,MIR3976HG,LINC01387,ARHGAP28,LAMA1,MTCL1,ANKRD12,PPP4R1,RAB31,RN7SL862P,LINC01887,PIEZO2,GNAL,TUBB6,PSMG2,PTPN2,SEH1L,CEP192,RNMT,MC2R,NF1P5,ANKRD30B,GREB1L,SNRPD1,MIB1,RBBP8,CABLES1,TMEM241,RIOK3,LAMA3,OSBPL1A,LINC01915,SS18,TAF4B,KCTD1,AQP4-AS1,CHST9,CDH2,DSC2,DSG1,TTR,TRAPPC8,RNF138,GAREM1,KLHL14,CCDC178,ASXL3,NOL4,MAPRE2,ZNF397,ZSCAN30,RPRD1A,ELP2,KIAA1328,CELF4,KC6,PIK3C3,LINC00907,LINC01478,SETBP1,SLC14A2,SLC14A2-AS1,SLC14A1,EPG5,PSTPIP2,RNF165,LOXHD1,KATNAL2,MIR4527HG,SMAD2,CTIF,ACAA2,MYO5B,MAPK4,ELAC1,RAB27B,CCDC68,LINC01539,WDR7,BOD1L2,NEDD4L,ALPK2,ZNF532,CCBE1,CDH20,PIGN,RELCH,TNFRSF11A,BCL2,SERPINB11,LINC01924,LINC00305,LINC01538,CDH7,CDH19,TMX3,CCDC102B,DOK6,CD226,RTTN,GTSCR1,LINC01541,CBLN2,NETO1,C18orf63,CNDP1,ZNF407,TSHZ1,ZNF516,ZNF236-DT,ZNF236,MBP,LINC01029,ATP9B,NFATC1,RBFADN,PARD6G,MYOM1,DLGAP1,LINC00667,L3MBTL4,APCDD1,SPIRE1,LDLRAD4,ROCK1,LINC01900,TTC39C,DSG3,DTNA,GALNT1,FHOD3,LINC01901,LINC01902,RIT2,ZBTB7C,DYM,LINC01630,DCC,TCF4,TXNL1,ATP8B1,RNF152,PHLPP1,HMSD,LINC00908,CTDP1,PTPRM,ZNF521,MALT1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005429
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR8078,LINC01925,CETN1,RN7SKP146,RNU1-109P,BOLA2P1,ADCYAP1,LINC01904,COX6CP3,RN7SKP72,KATNBL1P3,RNU6-340P,SNRPCP4,RNU7-25P,MYL12A,LINC01895,RPL31P59,IGLJCOR18,RPL21P127,BOD1P1,RN7SL39P,DLGAP1-AS1,MIR6718,RNU6-831P,GAPDHP66,PPIAP14,BOD1P2,LINC00526,MIR3976,TMEM200C,RNU5F-3P,MIR4317,RNU6-349P,RPL6P27,RN7SL282P,LINC00668,SCML2P1,RNU6-916P,SLC25A51P2,LRRC30,RFWD2P1,RN7SL50P,AKR1B1P6,TOMM20P3,RPS4XP19,RNU2-27P,RNU6-903P,KRT18P8,ZNF415P1,RNA5SP449,PIGPP4,TXNDC2,RNA5SP450,LINC01254,CCDC58P1,PMM2P1,KIAA0895LP1,MIR6788,LINC01928,SLC35G4,MIR7153,CHMP1B,CHMP1B-AS1,RNU6-324P,SDHDP1,CCDC58P3,PPIAP56,RNU6-170P,RNU7-129P,STK25P1,EIF4A2P1,C18orf15,LDLRAD4-AS1,MIR5190,MIR4526,RN7SL362P,MC5R,FRG2LP,RNU6-316P,RHOT1P1,CYP4F35P,TERF1P2,FEM1AP2,GRAMD4P7,RNU6-1021P,OR4K7P,OR4K8P,VN1R74P,RNU6-1210P,MIR3156-2,LINC01906,FGF7P1,LINC01444,BNIP3P3,RNU6-721P,RNU6-120P,EXOGP1,MIR320C1,RN7SL233P,MIR133A1HG,MIR133A1,MIR1-2,RNU6-1038P,RNA5SP451,RNU6ATAC20P,RNU6-702P,CTAGE1,RPS4XP18,RNU6-1032P,UBE2CP2,MIR4741,RN7SL745P,RPS10P27,RPL23AP77,RNU5A-6P,RNA5SP452,RNU6-435P,MIR320C2,EIF4A3P1,RAC1P1,PPIAP57,WBP2P1,RN7SL97P,RPS24P18,DHFRP1,NPM1P2,SINHCAFP1,RNU6-1289P,LINC01543,MIR8057,CIAPIN1P,UBA52P9,RBM22P1,PA2G4P3,ARIH2P1,RNU6-408P,MIR302F,RNU6-857P,RNU6-167P,RN7SKP44,LRRC37A7P,SLC25A52,RNU6-1050P,PGDP1,RNA5SP453,CLUHP6,HNRNPA1P7,WBP11P1,MIR3975,NRBF2P1,MIR187,MIR3929,MIR4318,RPL12P40,RN7SKP182,RNU6-706P,RPL7AP66,MIR924,MIR5583-2,MIR5583-1,RNU6-1242P,RPL17P45,RNA5SP454,RNA5SP455,KRT8P5,MLECP1,MIR4319,RNY4P37,RNU6-1278P,ELOA3D,ELOA3C,ELOA3B,ELOA3,ELOA2,RNU6-1131P,MIR4527,TPMTP1,MTCO2P2,RNU6-708P,C18orf12,RNA5SP456,POLR3GP2,MIR4743,MIR4744,PRR13P4,RPL17-C18orf32,MIR1539,RPL17,SNORD58C,SNORD58A,SNORD58B,SMUG1P1,SCARNA17,RNA5SP457,ADAD1P2,MIR4320,RN7SL310P,MBD1,RNA5SP458,RPLP0P11,HNRNPA3P16,RPL17P46,SRSF10P1,RNU1-46P,SS18L2P2,RSL24D1P9,RPS8P3,VN1R76P,MIR4528,RPL29P32,SNORA37,SNRPGP2,RPSAP57,MAP1LC3P,RNA5SP459,MIR4529,RPL21P126,LINC01415,LINC02565,RNU6-737P,RNU6-742P,RSL24D1P11,LINC01897,HMGN1P30,MIR122HG,MIR122,MIR3591,SNORA108,RPL9P31,MRPL37P1,RNU6-219P,RNU2-69P,RAX,RPS26P54,GLUD1P4,PMAIP1,NFE2L3P1,RN7SL342P,SDCCAG3P1,SINHCAFP2,RNU6-567P,RPS3AP49,RNU4-17P,MC4R,MRPS5P4,CTBP2P3,HMGN1P31,RNU6-116P,RPL30P14,RPIAP1,RPL17P44,ACTBP9,RN7SL705P,RNU6-142P,ATP5MC1P6,SERPINB12,SERPINB4,SERPINB3,RPL12P39,PRPF19P1,RNU6-1037P,MIR5011,RPL31P9,DSEL,LINC01912,AKR1B10P2,RNU6-39P,SDHCP1,LINC01910,LARP7P3,RPS2P6,RN7SL795P,HNRNPA1P11,RNA5SP460,MIR548AV,RN7SL401P,RN7SL551P,FAUP1,LINC01922,LINC01893,LINC00683,ARL2BPP1,CCND3P2,RNU6-346P,RPL26P35,BDP1P,RNA5SP461,RNU6-655P,LINC01896,SLC25A6P4,IL9RP4,ROCK1P1,USP14,CLUL1,TYMS,ENOSF1,METTL4,NDC80,CBX3P2,LPIN2,TGIF1,GAPLINC,DLGAP1-AS2,DLGAP1-AS3,DLGAP1-AS4,DLGAP1-AS5,LINC01892,AKAIN1,ZBTB14,L3MBTL4-AS1,THEMIS3P,RAB12,GACAT2,NDUFV2,NDUFV2-AS1,TWSG1,RALBP1,PPP4R1-AS1,VAPA,NAPG,LINC01255,NPIPB1P,ASNSP6,MPPE1,IMPA2,ANKRD62,CIDEA,AFG3L2,PRELID3A,CEP76,FAM210A,ZNF519,ANKRD20A5P,LONRF2P1,CXADRP3,POTEC,SNX19P3,GTF2IP8,LINC01443,ESCO1,ABHD3,GATA6-AS1,GATA6,RMC1,NPC1,ANKRD29,TTC39C-AS1,CABYR,IMPACT,HRH4,LINC01894,PSMA8,PCAT18,AQP4,LINC01908,DSC3,DSCAS,DSC1,DSG1-AS1,DSG4,DSG2,DSG2-AS1,B4GALT6,RNF125,MEP1B,ZNF271P,ZNF24,ZNF396,INO80C,C18orf21,SLC39A6,MOCOS,TPGS2,LINC01477,SYT4,SIGLEC15,RN7SKP26,ATP5F1A,HAUS1,C18orf25,ST8SIA5,PIAS2,HDHD2,IER3IP1,SKOR2,SMAD7,C18orf32,SRP72P1,LIPG,SNHG22,CFAP53,CXXC1,SKA1,MRO,ME2,SMAD4,MEX3C,LINC01917,LINC01919,MBD2,POLI,STARD6,C18orf54,DYNAP,LINC01929,TCF4-AS1,TCF4-AS2,LINC01416,LINC01905,WDR7-OT1,LINC-ROR,ST8SIA3,ONECUT2,FECH,NARS,LINC01926,OACYLP,SEC11C,GRP,CPLX4,LMAN1,LINC01544,ZCCHC2,KDSR,VPS4B,SERPINB5,SERPINB13,SERPINB7,SERPINB2,SERPINB10,SERPINB8,LINC01916,LINC01903,SOCS6,LINC01909,LIVAR,LINC01899,LINC02582,FBXO15,TIMM21,CYB5A,CNDP2,LINC00909,ZADH2,SMIM21,LINC01898,C18orf65,LINC01927,LINC01879,GALR1,SALL3,KCNG2,PQLC1,HSBP1L1,TXNL4A,RBFA,ADNP2,PARD6G-AS1,THOC1,COLEC12,TYMSOS,YES1,LINC00470,SMCHD1,EMILIN2,MYL12B,EPB41L3,MIR3976HG,LINC01387,ARHGAP28,LAMA1,MTCL1,ANKRD12,PPP4R1,RAB31,RN7SL862P,LINC01887,PIEZO2,GNAL,TUBB6,PSMG2,PTPN2,SEH1L,CEP192,RNMT,MC2R,NF1P5,ANKRD30B,GREB1L,SNRPD1,MIB1,RBBP8,CABLES1,TMEM241,RIOK3,LAMA3,OSBPL1A,LINC01915,SS18,TAF4B,KCTD1,AQP4-AS1,CHST9,CDH2,DSC2,DSG1,TTR,TRAPPC8,RNF138,GAREM1,KLHL14,CCDC178,ASXL3,NOL4,MAPRE2,ZNF397,ZSCAN30,RPRD1A,ELP2,KIAA1328,CELF4,KC6,PIK3C3,LINC00907,LINC01478,SETBP1,SLC14A2,SLC14A2-AS1,SLC14A1,EPG5,PSTPIP2,RNF165,LOXHD1,KATNAL2,MIR4527HG,SMAD2,CTIF,ACAA2,MYO5B,MAPK4,ELAC1,RAB27B,CCDC68,LINC01539,WDR7,BOD1L2,NEDD4L,ALPK2,ZNF532,CCBE1,CDH20,PIGN,RELCH,TNFRSF11A,BCL2,SERPINB11,LINC01924,LINC00305,LINC01538,CDH7,CDH19,TMX3,CCDC102B,DOK6,CD226,RTTN,GTSCR1,LINC01541,CBLN2,NETO1,C18orf63,CNDP1,ZNF407,TSHZ1,ZNF516,ZNF236-DT,ZNF236,MBP,LINC01029,ATP9B,NFATC1,RBFADN,PARD6G,MYOM1,DLGAP1,LINC00667,L3MBTL4,APCDD1,SPIRE1,LDLRAD4,ROCK1,LINC01900,TTC39C,DSG3,DTNA,GALNT1,FHOD3,LINC01901,LINC01902,RIT2,ZBTB7C,DYM,LINC01630,DCC,TCF4,TXNL1,ATP8B1,RNF152,PHLPP1,HMSD,LINC00908,CTDP1,PTPRM,ZNF521,MALT1
Controls
No Control Data Available
No Animal Model Data Available