12p13.33-p11.1CNV Type: Duplication
Largest CNV size: 34200000 bp
Statistics Box:
Number of Reports: 5
Number of Reports: 5
Summary Information
Summary statement in development
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
Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies.
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization.
Duplication
Comprehensive genome sequencing analyses identify novel gene mutations and copy number variations associated with infant developmental delay or intellectual disability (DD/ID)
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
chaves_24_ASD/DD/ID_discovery_cases
CMA read files performed by the Laboratrio Neurogene in Florianpolis, Santa Catarina, Brazil, upon request by medical geneticists and neurologists for investigative/diagnostic purposes, primarily from the Joana de Gusmo Children's Hospital, but also from MDs from the University Hospital Professor Polydoro Ernani de So Thiago and from private clinics in Florianpolis, State of Santa Catarina, betwee
1012
83% of cases presented with developmental delay (DD) and/or intellectual disability (ID), with 33% of cases presented with autism spectrum disorder.
Mean age, 10yrs. (median7.15 yrs., standard deviation10.2).
60.77% Male
34541488
0
1
1
chen_22_DD/ID_discovery_cases
Patients recruited at the Children's Hospital of Chongqing Medical University, from September 2016 to April 2020.
69
Patients presented with developmental delay/intellectual disability (DD/ID), with or without multiple congenital anomalies (MCA).
Average age at diagnosis, 19 mos.
50.725% Male
34368245
0
1
1
iourov_12_ASD/ID/EP_discovery_cases
Individuals selected from a total of 2426 patients whom had been evaluated cytogenetically and molecularly between November 2007 and May 2012
54
Intellectual disability (ID), autism/ASD, epilepsy (EP), and/or congenital anomalies
Range, 3 mos.-11 yrs.
NA
33483133
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
34367764
0
3
3
tzetis_12_DD/ID_discovery_cases
Patients referred for aCGH analysis from 2008-present
334
Cases presented with at least one of the following clinical indications: developmental delay (DD), intellectual disability (ID), dysmorphic features, unique or multiple congenital anomalies (MCA), growth disorder, behavior disorder, and/or autism (ASD)
Range, 1 month-38 years (median age of 4 years)
34200000
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
chaves_24_ASD/DD/ID_discovery_cases
Brazil
Array SNP
Affymetrix CytoScan 750K, Affymetrix CytoScan HD
Affymetrix ChAS
chen_22_DD/ID_discovery_cases
China
WGS
Illumina NovaSeq 6000
NA
Chigene
None
iourov_12_ASD/ID/EP_discovery_cases
Russian
aCGH
BACs aCGH
FISH
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
tzetis_12_DD/ID_discovery_cases
Greece
aCGH
Agilent 244K, Agilent 4x180K
ADM-1
Agilent Feature Extraction V9.1, Agilent CGH Analytics V4.0, Illumina GenomeStudio V2011.1
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
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
chaves_24_ASD/DD/ID_discovery_cases-case961
M
Dysmorphic features, cleft palate, anal fistula, imperforate anus, hypertrophic cardiomyopathy, hypodense area affecting the cortical region, pigmentary lesion in the right eye.
64620
34606107
34541488
GRCh38
Duplication
No
chen_22_DD/ID_discovery_cases-case36
6 mos.
M
Intellectual disability
Gesell scores: 57-48-19-38-57. Clinical profile: abnormal face, hypertonia. Mosaic duplication (about 14%)
Intellectual disability.
300834
34669078
34368245
GRCh38
Duplication
No
iourov_12_ASD/ID/EP_discovery_cases-case1
10 mos.
M
Developmental delay/intellectual disability
Phenotypically similar to 1p36 deletion phenotype and Pallister-Killian syndrome phentoype. Karytoype: XXY.
Developmental delay/intellectual disability
45740
33483248
33437509
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002106
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
77187
34380176
34302990
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004498
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
212976
33926913
33713938
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005385
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
77187
34380176
34302990
GRCh38
Duplication
Yes
tzetis_12_DD/ID_discovery_cases-case32
F
DD/ID
Craniofacial dysmorphism, hypertelorism, low set and small malformed, anal atresia, sigle transverse palmar crease
85083
34245381
34160299
GRCh38
Duplication
No
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
chaves_24_ASD/DD/ID_discovery_cases-case961
Unknown
CD9,BICD1,CDKN1B,ASS1P14,CD4,C3AR1,CCND2,ART4,APOBEC1,A2M,C1R,BCAT1,A2MP1,ARHGDIB,C1S,CD69,CHD4,CD27,CACNA1C,EMP1,FKBP4,PHC1,FOXM1,DDX11,ATN1,FGF6,EPS8,ENO2,CREBL2,ETV6,SLCO1B3,GALNT8,GPR162,CLEC2D,MRPL51,CLEC1B,KLRF1,ING4,C1RL,GOLT1B,CLEC4A,TM7SF3,COPS7A,HEBP1,ERGIC2,TAS2R13,TAS2R7,CLEC1A,TAS2R10,TAS2R8,DERA,DDX47,TAS2R9,TAS2R14,YARS2,WBP11,TAPBPL,PLEKHG6,SLCO1C1,FAM90A1,DNAI7,PLEKHA5,ATF7IP,RESF1,INTS13,FAR2,MANSC1,GPRC5D,ETNK1,MAGOHB,CCDC91,STYK1,KLHL42,PARP11,MRPS35,ITFG2,ARNTL2,PRMT8,LPAR5,SINHCAF,AICDA,FOXJ2,CMAS,FAM234B,C12orf4,RIMKLB,TIGAR,ANO2,H2AJ,LMO3,RERGL,CAPRIN2,BHLHE41,CLEC7A,PLBD1,ADIPOR2,WNK1,PYROXD1,BCL2L14,NANOG,NRIP2,WNT5B,RHNO1,APOLD1,CCDC77,DUSP16,SPX,RBP5,TMTC1,CDCA3,GSG1,C12orf57,ACRBP,ALG10,CLEC6A,RPL7P6,CRACR2A,HTR7P1,CACNA2D4,PLCZ1,SPSB2,RERG,CAPZA3,BORCS5,TMEM52B,H4-16,AEBP2,FGD4,ERP27,C12orf60,LINC00477,SLC2A14,FBXL14,A2M-AS1,ETFRF1,A2ML1,IFITM3P2,DSTNP2,PIANP,DCP1B,CLEC4C,CLEC12A,AMN1,CLECL1,ZNF384,LMNTD1,DENND5B,LINC02909,GYS2,GRIN2B,IAPP,GNAI2P1,GPR19,GAPDH,GUCY2C,GNB3,ITFG2-AS1,CD163L1,TUBB8P4,ETFBKMT,HSPD1P12,OR7E148P,TAS2R15P,TAS2R31,TAS2R20,LINC00612,LINC01559,C1RL-AS1,TAS2R46,CLEC9A,TAS2R30,B4GALNT3,OR7E149P,TAS2R50,RPL13P5,TAS2R43,EIF2S3B,TAS2R19,SMCO2,CLEC4D,OVCH1,TAS2R63P,OR7E140P,RPL23AP14,SLCO1B7,RPL31P50,ACSM4,SYT10,TAS2R64P,LINC01252,DPPA3,CLEC12B,REP15,NANOGNB,CLEC2A,MRPS18CP4,EEF1A1P16,OTUD4P1,RPL13AP20,TAS2R42,TCP1P3,HADHAP2,HSPA8P5,PSMC1P8,SRP14P1,HNRNPABP1,TIMM17BP1,SUPT16HP1,CLEC12A-AS1,LINC00937,DDX12P,IQSEC3,ZNF705A,FAM66C,BRI3P2,MIR141,NANOGP1,MIR200C,TSPAN11,H3-5,SMCO3,LOH12CR2,POU5F1P3,AK4P3,TDGP1,VDAC2P2,GOT2P3,GAPDHP31,PSMC1P9,RPS3AP43,LRTM2,SCARNA10,MIR614,SCARNA12,SKP1P2,SCARNA11,C12orf71,PRB2,CD27-AS1,METTL8P1,SNORA75,FAM86FP,ATP5MFP5,SLC15A5,MIR613,BORCS8P1,NINJ2-AS1,MIR920,RPS4XP14,BTG1P1,KNOP1P1,DDX55P1,SMIM10L1,KRT17P8,IRAG2,NINJ2,KCNA6,MGST1,KCNA5,KLRD1,KRAS,KLRB1,OLR1,KLRC1,LRP6,LTBR,KLRC2,NDUFA9,KCNJ8,ITPR2,KCNA1,MGP,KLRC3,NOP2,M6PR,LDHB,NTF3,LAG3,RNU7-60P,IQSEC3P1,RNU7-1,DUX4L27,AK6P1,RPL12P32,RPS27P22,NIFKP3,RPL30P11,GCSHP4,RPL21P99,RPL7P40,SUPT4H1P2,RPL23AP66,HSPE1P12,LINC00941,MANSC4,RPSAP51,LINC00940,LRRC34P1,RPL35AP27,LINC00942,RPL21P136,CENPUP2,NDFIP1P1,RARS1P1,EEF1A1P4,TPT1P12,GCNAP1,ZKSCAN7P1,FAM133GP,HTR1DP1,EGLN3P1,HMGB1P49,STX8P1,LINC02470,MIR4302,LINC00987,MIR1244-3,KLRF2,MIR3649,ELOCP31,UBE2L2,GPRC5D-AS1,MIR3974,DDX11-AS1,LINC02398,PDCD5P1,KLRC4-KLRK1,STMN1P1,PTMAP9,RASSF8-AS1,RNA5SP356,RNA5SP357,RNA5SP353,CACNA1C-AS1,RNA5SP354,HNRNPA1P34,CACNA1C-AS4,RERG-AS1,HIGD1AP8,RNU5F-4P,RERG-IT1,DENND5B-AS1,CACNA1C-IT3,TSPAN9-IT1,A2ML1-AS1,CBX3P4,CACNA1C-AS2,OVCH1-AS1,LINC02449,LINC02446,KDM5A,PRB1,PTPRO,PTMS,RAD52,PDE6H,PEX5,PKP2,PDE3A,PIK3C2G,PTPN6,PTMAP4,PRB3,PTHLH,PZP,PRB4,PRH2,RECQL,PRH1,LINC02443,SLC6A12-AS1,GAU1,LINC02387,ARNTL2-AS1,LINC01489,TEX52,LINC02366,SOX5-AS1,KLRK1-AS1,PLBD1-AS1,LINC02417,LINC02367,CCND2-AS1,LINC02378,ETNK1-DT,MIR1244-4,LINC02468,LINC02827,LINC02455,PARP11-AS1,LINC02386,LINC02422,MIR200CHG,LINC02390,TUBB4BP1,RN7SKP134,RNA5SP355,RN7SL380P,RN7SKP161,RN7SL67P,RN7SKP262,A2ML1-AS2,CACNA1C-AS3,RN7SL459P,ALG1L10P,TEAD4,SLCO1A2,VWF,SCNN1A,TNFRSF1A,SLC6A12,SOX5,VAMP1,TULP3,SLC2A3,ST8SIA1,TPI1,SLC6A13,RNU4-54P,RNU6-494P,RNU1-146P,RNU6-837P,RNU6-254P,RNU6-781P,MREGP1,RNU6-545P,RNU6-700P,RNU6-491P,RNU6-1069P,RNU6-275P,RNU4-67P,RNU6-174P,ENPP7P5,RNU6-485P,RN7SL38P,RNU4ATAC16P,RNU6-618P,RN7SL69P,RNU6-400P,RN7SL391P,RNU6-472P,RNU6-590P,RNU6-251P,RN7SKP15,RN7SKP162,RNU7-103P,RNU6-1315P,RNU6-318P,RNU1-149P,LINC02371,SLC25A39P2,MRPS35-DT,SULT6B2P,CACNA1C-IT1,DEFB109F,PPIAP44,GAPDH-DT,LINC02598,FGF23,KLRC4,SSPN,MLF2,USP5,DYRK4,PPFIBP1,MFAP5,YBX3,LINC02617,SLCO1B3-SLCO1B7,PDE3A-AS1,GABARAPL1-AS1,BICD1-AS1,ANKRD49P2,NCAPD2,ABCC9,CLEC2B,C2CD5,DNM1L,MED21,LPCAT3,GDF3,GPRC5A,KLRG1,CLSTN3,CD163,P3H3,NPM1P7,LRRC23,RASSF8,STRAP,AKAP3,EMG1,IPO8,TSPAN9,PHB2,RAD51AP1,PRR4,KLRA1P,SLCO1B1,GABARAPL1,ERC1,FGFR1OP2,STK38L,CLEC4E,NECAP1,KLRK1,IFFO1
chen_22_DD/ID_discovery_cases-case36
De novo
CD9,BICD1,CDKN1B,ASS1P14,CD4,C3AR1,CCND2,ART4,APOBEC1,A2M,C1R,BCAT1,A2MP1,ARHGDIB,C1S,CD69,CHD4,CD27,CACNA1C,EMP1,FKBP4,PHC1,FOXM1,DDX11,ATN1,FGF6,EPS8,ENO2,CREBL2,ETV6,SLCO1B3,GALNT8,GPR162,CLEC2D,MRPL51,CLEC1B,KLRF1,ING4,C1RL,GOLT1B,CLEC4A,TM7SF3,COPS7A,HEBP1,ERGIC2,TAS2R13,TAS2R7,CLEC1A,TAS2R10,TAS2R8,DERA,DDX47,TAS2R9,TAS2R14,YARS2,WBP11,TAPBPL,PLEKHG6,SLCO1C1,FAM90A1,DNAI7,PLEKHA5,ATF7IP,RESF1,INTS13,FAR2,MANSC1,GPRC5D,ETNK1,MAGOHB,CCDC91,STYK1,KLHL42,PARP11,MRPS35,ITFG2,ARNTL2,PRMT8,LPAR5,SINHCAF,AICDA,FOXJ2,CMAS,FAM234B,C12orf4,RIMKLB,TIGAR,ANO2,H2AJ,LMO3,RERGL,CAPRIN2,BHLHE41,CLEC7A,PLBD1,ADIPOR2,WNK1,PYROXD1,BCL2L14,NANOG,NRIP2,WNT5B,RHNO1,APOLD1,CCDC77,DUSP16,SPX,RBP5,TMTC1,CDCA3,GSG1,C12orf57,ACRBP,ALG10,CLEC6A,RPL7P6,CRACR2A,HTR7P1,CACNA2D4,PLCZ1,SPSB2,RERG,CAPZA3,BORCS5,TMEM52B,H4-16,AEBP2,FGD4,ERP27,C12orf60,LINC00477,SLC2A14,FBXL14,A2M-AS1,ETFRF1,A2ML1,IFITM3P2,DSTNP2,PIANP,DCP1B,CLEC4C,CLEC12A,AMN1,CLECL1,ZNF384,LMNTD1,DENND5B,LINC02909,GYS2,GRIN2B,IAPP,GNAI2P1,GPR19,GAPDH,GUCY2C,GNB3,ITFG2-AS1,CD163L1,TUBB8P4,ETFBKMT,HSPD1P12,OR7E148P,TAS2R15P,TAS2R31,TAS2R20,LINC00612,LINC01559,C1RL-AS1,TAS2R46,CLEC9A,TAS2R30,B4GALNT3,OR7E149P,TAS2R50,RPL13P5,TAS2R43,EIF2S3B,TAS2R19,SMCO2,CLEC4D,OVCH1,TAS2R63P,OR7E140P,RPL23AP14,SLCO1B7,RPL31P50,ACSM4,SYT10,TAS2R64P,LINC01252,DPPA3,CLEC12B,REP15,NANOGNB,CLEC2A,MRPS18CP4,EEF1A1P16,OTUD4P1,RPL13AP20,TAS2R42,TCP1P3,HADHAP2,HSPA8P5,PSMC1P8,SRP14P1,HNRNPABP1,TIMM17BP1,SUPT16HP1,CLEC12A-AS1,LINC00937,DDX12P,ZNF705A,FAM66C,BRI3P2,MIR141,NANOGP1,MIR200C,TSPAN11,H3-5,SMCO3,LOH12CR2,POU5F1P3,AK4P3,TDGP1,VDAC2P2,GOT2P3,GAPDHP31,PSMC1P9,RPS3AP43,LRTM2,SCARNA10,MIR614,SCARNA12,SKP1P2,SCARNA11,C12orf71,PRB2,CD27-AS1,METTL8P1,SNORA75,FAM86FP,ATP5MFP5,SLC15A5,MIR613,BORCS8P1,NINJ2-AS1,MIR920,RPS4XP14,BTG1P1,KNOP1P1,DDX55P1,SMIM10L1,KRT17P8,IRAG2,NINJ2,KCNA6,MGST1,KCNA5,KLRD1,KRAS,KLRB1,OLR1,KLRC1,LRP6,LTBR,KLRC2,NDUFA9,KCNJ8,ITPR2,KCNA1,MGP,KLRC3,NOP2,M6PR,LDHB,NTF3,LAG3,RNU7-60P,IQSEC3P1,RNU7-1,DUX4L27,AK6P1,RPL12P32,RPS27P22,NIFKP3,RPL30P11,GCSHP4,RPL21P99,RPL7P40,SUPT4H1P2,RPL23AP66,HSPE1P12,LINC00941,MANSC4,RPSAP51,LINC00940,LRRC34P1,RPL35AP27,LINC00942,RPL21P136,CENPUP2,NDFIP1P1,RARS1P1,EEF1A1P4,TPT1P12,GCNAP1,ZKSCAN7P1,FAM133GP,HTR1DP1,EGLN3P1,HMGB1P49,STX8P1,LINC02470,MIR4302,LINC00987,MIR1244-3,KLRF2,MIR3649,ELOCP31,UBE2L2,GPRC5D-AS1,MIR3974,DDX11-AS1,LINC02398,PDCD5P1,KLRC4-KLRK1,STMN1P1,PTMAP9,RASSF8-AS1,RNA5SP356,RNA5SP357,RNA5SP353,CACNA1C-AS1,RNA5SP354,HNRNPA1P34,CACNA1C-AS4,RERG-AS1,HIGD1AP8,RNU5F-4P,RERG-IT1,DENND5B-AS1,CACNA1C-IT3,TSPAN9-IT1,A2ML1-AS1,CBX3P4,CACNA1C-AS2,OVCH1-AS1,LINC02449,LINC02446,KDM5A,PRB1,PTPRO,PTMS,RAD52,PDE6H,PEX5,PKP2,PDE3A,PIK3C2G,PTPN6,PTMAP4,PRB3,PTHLH,PZP,PRB4,PRH2,RECQL,PRH1,LINC02443,GAU1,LINC02387,ARNTL2-AS1,LINC01489,TEX52,LINC02366,SOX5-AS1,KLRK1-AS1,PLBD1-AS1,LINC02417,LINC02367,CCND2-AS1,LINC02378,ETNK1-DT,MIR1244-4,LINC02468,LINC02827,LINC02455,PARP11-AS1,LINC02386,LINC02422,MIR200CHG,LINC02390,TUBB4BP1,RN7SKP134,RNA5SP355,RN7SL380P,RN7SKP161,RN7SL67P,RN7SKP262,A2ML1-AS2,CACNA1C-AS3,RN7SL459P,ALG1L10P,TEAD4,SLCO1A2,VWF,SCNN1A,TNFRSF1A,SOX5,VAMP1,TULP3,SLC2A3,ST8SIA1,TPI1,RNU4-54P,RNU6-494P,RNU1-146P,RNU6-837P,RNU6-254P,RNU6-781P,MREGP1,RNU6-545P,RNU6-700P,RNU6-491P,RNU6-1069P,RNU6-275P,RNU4-67P,RNU6-174P,ENPP7P5,RNU6-485P,RN7SL38P,RNU4ATAC16P,RNU6-618P,RN7SL69P,RNU6-400P,RN7SL391P,RNU6-472P,RNU6-590P,RNU6-251P,RN7SKP15,RN7SKP162,RNU7-103P,RNU6-1315P,RNU6-318P,RNU1-149P,LINC02371,SLC25A39P2,MRPS35-DT,SULT6B2P,CACNA1C-IT1,DEFB109F,PPIAP44,GAPDH-DT,LINC02598,FGF23,KLRC4,SSPN,MLF2,USP5,DYRK4,PPFIBP1,MFAP5,YBX3,LINC02617,SLCO1B3-SLCO1B7,PDE3A-AS1,GABARAPL1-AS1,BICD1-AS1,ANKRD49P2,NCAPD2,ABCC9,CLEC2B,C2CD5,DNM1L,MED21,LPCAT3,GDF3,GPRC5A,KLRG1,CLSTN3,CD163,P3H3,NPM1P7,LRRC23,RASSF8,STRAP,AKAP3,EMG1,IPO8,TSPAN9,PHB2,RAD51AP1,PRR4,KLRA1P,SLCO1B1,GABARAPL1,ERC1,FGFR1OP2,STK38L,CLEC4E,NECAP1,KLRK1,IFFO1
iourov_12_ASD/ID/EP_discovery_cases-case1
FISH
Unknown
Unknown
Unknown
RNU7-103P,LINC02455,RNU4ATAC16P,HTR1DP1,LINC00942,MIR3649,RPS4XP14,CACNA1C-IT1,CACNA1C-IT2,CACNA1C-AS4,LINC02371,IQSEC3P1,RPL23AP14,CBX3P4,RNU6-1315P,TSPAN9-IT1,LINC02417,RNU6-174P,OTUD4P1,HSPA8P5,KCNA6,RN7SL69P,ATP5MFP5,RN7SL391P,SRP14P1,CD27-AS1,CD27,VAMP1,MRPL51,SCARNA10,NOP2,SCARNA11,ACRBP,PIANP,RNU6-781P,COPS7A,LAG3,RN7SL380P,GPR162,GNB3,TPI1,DSTNP2,C12orf57,RNU7-1,MIR200CHG,MIR200C,MIR141,PHB2,SCARNA12,C1R,RNU6-485P,GAPDHP31,NIFKP3,GDF3,HSPD1P12,POU5F1P3,GCSHP4,ALG1L10P,RPS3AP43,OR7E140P,OR7E148P,RNU6-275P,SUPT4H1P2,AICDA,RPSAP51,A2ML1-AS2,VDAC2P2,A2M-AS1,KRT17P8,BTG1P1,TPT1P12,MIR1244-3,PTMAP4,RNU6-700P,GOT2P3,LINC02390,CD69,KLRF2,LINC02470,CLEC12A-AS1,CLEC12B,RN7SKP161,HNRNPABP1,OLR1,GABARAPL1,LINC02598,KLRC4,LINC02446,KLRA1P,MAGOHB,HSPE1P12,TAS2R7,TAS2R8,TAS2R9,TAS2R10,TAS2R13,PRH2,TAS2R15P,TAS2R50,TAS2R20,TAS2R19,TAS2R31,TAS2R63P,TAS2R46,TAS2R64P,TAS2R30,TAS2R42,PRB3,PRB4,HIGD1AP8,DDX55P1,RNU7-60P,MIR1244-4,RNU6-545P,RNU6-318P,RPL23AP66,LOH12CR2,CDKN1B,MIR613,STX8P1,RPL13AP20,MIR614,HTR7P1,RNA5SP353,RNU6-590P,RN7SKP162,MRPS18CP4,RNU6-491P,GNAI2P1,RPL30P11,RN7SKP134,HIST4H4,H2AFJ,MGP,LINC01489,RERG-IT1,METTL8P1,RNU6-251P,EGLN3P1,EEF1A1P16,RNU6-837P,RPL7P40,TIMM17BP1,MIR3974,NDFIP1P1,ZKSCAN7P1,PSMC1P9,CAPZA3,RPL7P6,MEF2BNBP1,RN7SL459P,RN7SL67P,PDCD5P1,RNU6-254P,EEF1A1P4,RNU1-146P,TCP1P3,LINC02468,UBE2L2,ELOCP31,RNU1-149P,LRRC34P1,RPS27P22,MIR920,KNOP1P1,CENPUP2,RNU4-67P,TUBB4BP1,RN7SKP262,TDGP1,MIR4302,BHLHE41,RNA5SP354,C12orf71,RARSP1,REP15,HMGB1P49,RN7SKP15,RNU4-54P,RNA5SP355,RPL21P99,RNA5SP356,PPIAP44,MREGP1,FLJ13224,LINC02387,RNU6-618P,RNU5F-4P,RPL31P50,AK4P3,STMN1P1,H3F3C,RNU6-1069P,RNU6-494P,SLC6A12,KDM5A,LINC00940,CACNA1C-IT3,CACNA1C-AS3,CACNA1C-AS2,CACNA1C-AS1,ITFG2-AS1,FKBP4,ITFG2,NRIP2,TEX52,FOXM1,CCND2-AS1,CCND2,FGF23,FGF6,C12orf4,RAD51AP1,AKAP3,NDUFA9,KCNA1,KCNA5,CD9,PLEKHG6,TNFRSF1A,SCNN1A,LTBR,TAPBPL,NCAPD2,GAPDH,CHD4,LPAR5,ING4,MLF2,PTMS,P3H3,CDCA3,USP5,SPSB2,RPL13P5,LRRC23,ENO2,ATN1,EMG1,LPCAT3,C1S,C1RL,C1RL-AS1,RBP5,CLSTN3,ACSM4,APOBEC1,DPPA3,NANOGNB,NANOG,NANOGP1,SLC2A3,FOXJ2,C3AR1,NECAP1,ZNF705A,FAM66C,DEFB109F,FAM90A1,FAM86FP,LINC02449,OR7E149P,CLEC6A,CLEC4E,HADHAP2,A2ML1,PHC1,M6PR,KLRG1,HNRNPA1P34,LINC00612,A2M,A2MP1,LINC00987,LINC02367,KLRB1,CLECL1,CLEC2B,CLEC2A,CLEC1B,CLEC9A,CLEC7A,TMEM52B,KLRD1,KLRK1,KLRC4-KLRK1,KLRC3,KLRC2,KLRC1,EIF2S3B,SLC25A39P2,STYK1,YBX3,LINC02366,PRR4,TAS2R43,SMIM10L1,PRB1,LINC01252,MANSC1,DUSP16,CREBL2,RPL21P136,GPR19,APOLD1,DDX47,GPRC5A,GPRC5D,GSG1,EMP1,LINC01559,PLBD1-AS1,WBP11,ART4,ERP27,PDE6H,RERG-AS1,STRAP,SUPT16HP1,LMO3,PSMC1P8,PLCZ1,PYROXD1,GOLT1B,SPX,GYS2,LDHB,KCNJ8,CMAS,SULT6B2P,SOX5-AS1,LINC00477,RN7SL38P,C12orf77,ETFRF1,KRAS,RASSF8,INTS13,FGFR1OP2,MED21,SMCO2,MRPS35,MANSC4,PTHLH,OVCH1-AS1,CAPRIN2,DDX11,DENND5B-AS1,ETFBKMT,LINC02422,RPL12P32,DNM1L,YARS2,PKP2,IQSEC3,SLC6A13,CCDC77,B4GALNT3,NINJ2,WNK1,RAD52,WNT5B,FBXL14,ADIPOR2,CACNA2D4,LRTM2,DCP1B,RHNO1,TULP3,TEAD4,PRMT8,CRACR2A,PARP11,TIGAR,DYRK4,GAU1,GALNT8,NTF3,ANO2,VWF,IFFO1,ZNF384,CD4,PTPN6,PEX5,CD163L1,CD163,CLEC4C,SLC2A14,CLEC4A,ENPP7P5,CLEC4D,MFAP5,RIMKLB,A2ML1-AS1,PZP,CLEC2D,KLRF1,CLEC12A,CLEC1A,PRH1,PRH1-PRR4,TAS2R14,PRB2,ETV6,BCL2L14,LRP6,BORCS5,GPRC5D-AS1,HEBP1,FAM234B,ATF7IP,PLBD1,C12orf60,SMCO3,ARHGDIB,RERG,PTPRO,DERA,SLC15A5,MGST1,LINC02378,RERGL,PIK3C2G,PLEKHA5,AEBP2,LINC02398,PDE3A,SLCO1C1,SLCO1B3,SLCO1B1,SLCO1A2,IAPP,RECQL,ABCC9,ST8SIA1,C2CD5,ETNK1,BCAT1,LRMP,LMNTD1,RASSF8-AS1,ITPR2,TM7SF3,ARNTL2,ARNTL2-AS1,PPFIBP1,KLHL42,FAR2,OVCH1,TMTC1,LINC02386,IPO8,LINC00941,TSPAN11,DDX11-AS1,SINHCAF,AMN1,BICD1,SYT10,ERC1,CACNA1C,TSPAN9,LINC02443,DDX12P,GRIN2B,GUCY2C,EPS8,SLCO1B7,SOX5,SSPN,STK38L,CCDC91,ERGIC2,DENND5B,FGD4,LINC00937,CASC1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002106
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU7-103P,LINC02455,RNU4ATAC16P,HTR1DP1,LINC00942,MIR3649,RPS4XP14,CACNA1C-IT1,CACNA1C-IT2,CACNA1C-AS4,LINC02371,IQSEC3P1,RPL23AP14,CBX3P4,RNU6-1315P,TSPAN9-IT1,LINC02417,RNU6-174P,OTUD4P1,HSPA8P5,KCNA6,RN7SL69P,ATP5MFP5,RN7SL391P,SRP14P1,CD27-AS1,CD27,VAMP1,MRPL51,SCARNA10,NOP2,SCARNA11,ACRBP,PIANP,RNU6-781P,COPS7A,LAG3,RN7SL380P,GPR162,GNB3,TPI1,DSTNP2,C12orf57,RNU7-1,MIR200CHG,MIR200C,MIR141,PHB2,SCARNA12,C1R,RNU6-485P,GAPDHP31,NIFKP3,GDF3,HSPD1P12,POU5F1P3,GCSHP4,ALG1L10P,RPS3AP43,OR7E140P,OR7E148P,RNU6-275P,SUPT4H1P2,AICDA,RPSAP51,A2ML1-AS2,VDAC2P2,A2M-AS1,KRT17P8,BTG1P1,TPT1P12,MIR1244-3,PTMAP4,RNU6-700P,GOT2P3,LINC02390,CD69,KLRF2,LINC02470,CLEC12A-AS1,CLEC12B,RN7SKP161,HNRNPABP1,OLR1,GABARAPL1,LINC02598,KLRC4,LINC02446,KLRA1P,MAGOHB,HSPE1P12,TAS2R7,TAS2R8,TAS2R9,TAS2R10,TAS2R13,PRH2,TAS2R15P,TAS2R50,TAS2R20,TAS2R19,TAS2R31,TAS2R63P,TAS2R46,TAS2R64P,TAS2R30,TAS2R42,PRB3,PRB4,HIGD1AP8,DDX55P1,RNU7-60P,MIR1244-4,RNU6-545P,RNU6-318P,RPL23AP66,LOH12CR2,CDKN1B,MIR613,STX8P1,RPL13AP20,MIR614,HTR7P1,RNA5SP353,RNU6-590P,RN7SKP162,MRPS18CP4,RNU6-491P,GNAI2P1,RPL30P11,RN7SKP134,HIST4H4,H2AFJ,MGP,LINC01489,RERG-IT1,METTL8P1,RNU6-251P,EGLN3P1,EEF1A1P16,RNU6-837P,RPL7P40,TIMM17BP1,MIR3974,NDFIP1P1,ZKSCAN7P1,PSMC1P9,CAPZA3,RPL7P6,MEF2BNBP1,RN7SL459P,RN7SL67P,PDCD5P1,RNU6-254P,EEF1A1P4,RNU1-146P,TCP1P3,LINC02468,UBE2L2,ELOCP31,RNU1-149P,LRRC34P1,RPS27P22,MIR920,KNOP1P1,CENPUP2,RNU4-67P,TUBB4BP1,RN7SKP262,TDGP1,MIR4302,BHLHE41,RNA5SP354,C12orf71,RARSP1,REP15,HMGB1P49,RN7SKP15,RNU4-54P,RNA5SP355,RPL21P99,RNA5SP356,PPIAP44,MREGP1,FLJ13224,LINC02387,RNU6-618P,RNU5F-4P,RPL31P50,AK4P3,STMN1P1,H3F3C,RNU6-1069P,RNU6-494P,RNU6-400P,RNU6-472P,TUBB8P4,RNA5SP357,DUX4L27,AK6P1,SLC6A12,KDM5A,LINC00940,CACNA1C-IT3,CACNA1C-AS3,CACNA1C-AS2,CACNA1C-AS1,ITFG2-AS1,FKBP4,ITFG2,NRIP2,TEX52,FOXM1,CCND2-AS1,CCND2,FGF23,FGF6,C12orf4,RAD51AP1,AKAP3,NDUFA9,KCNA1,KCNA5,CD9,PLEKHG6,TNFRSF1A,SCNN1A,LTBR,TAPBPL,NCAPD2,GAPDH,CHD4,LPAR5,ING4,MLF2,PTMS,P3H3,CDCA3,USP5,SPSB2,RPL13P5,LRRC23,ENO2,ATN1,EMG1,LPCAT3,C1S,C1RL,C1RL-AS1,RBP5,CLSTN3,ACSM4,APOBEC1,DPPA3,NANOGNB,NANOG,NANOGP1,SLC2A3,FOXJ2,C3AR1,NECAP1,ZNF705A,FAM66C,DEFB109F,FAM90A1,FAM86FP,LINC02449,OR7E149P,CLEC6A,CLEC4E,HADHAP2,A2ML1,PHC1,M6PR,KLRG1,HNRNPA1P34,LINC00612,A2M,A2MP1,LINC00987,LINC02367,KLRB1,CLECL1,CLEC2B,CLEC2A,CLEC1B,CLEC9A,CLEC7A,TMEM52B,KLRD1,KLRK1,KLRC4-KLRK1,KLRC3,KLRC2,KLRC1,EIF2S3B,SLC25A39P2,STYK1,YBX3,LINC02366,PRR4,TAS2R43,SMIM10L1,PRB1,LINC01252,MANSC1,DUSP16,CREBL2,RPL21P136,GPR19,APOLD1,DDX47,GPRC5A,GPRC5D,GSG1,EMP1,LINC01559,PLBD1-AS1,WBP11,ART4,ERP27,PDE6H,RERG-AS1,STRAP,SUPT16HP1,LMO3,PSMC1P8,PLCZ1,PYROXD1,GOLT1B,SPX,GYS2,LDHB,KCNJ8,CMAS,SULT6B2P,SOX5-AS1,LINC00477,RN7SL38P,C12orf77,ETFRF1,KRAS,RASSF8,INTS13,FGFR1OP2,MED21,SMCO2,MRPS35,MANSC4,PTHLH,OVCH1-AS1,CAPRIN2,DDX11,DENND5B-AS1,ETFBKMT,LINC02422,RPL12P32,DNM1L,YARS2,PKP2,ALG10,IQSEC3,SLC6A13,CCDC77,B4GALNT3,NINJ2,WNK1,RAD52,WNT5B,FBXL14,ADIPOR2,CACNA2D4,LRTM2,DCP1B,RHNO1,TULP3,TEAD4,PRMT8,CRACR2A,PARP11,TIGAR,DYRK4,GAU1,GALNT8,NTF3,ANO2,VWF,IFFO1,ZNF384,CD4,PTPN6,PEX5,CD163L1,CD163,CLEC4C,SLC2A14,CLEC4A,ENPP7P5,CLEC4D,MFAP5,RIMKLB,A2ML1-AS1,PZP,CLEC2D,KLRF1,CLEC12A,CLEC1A,PRH1,PRH1-PRR4,TAS2R14,PRB2,ETV6,BCL2L14,LRP6,BORCS5,GPRC5D-AS1,HEBP1,FAM234B,ATF7IP,PLBD1,C12orf60,SMCO3,ARHGDIB,RERG,PTPRO,DERA,SLC15A5,MGST1,LINC02378,RERGL,PIK3C2G,PLEKHA5,AEBP2,LINC02398,PDE3A,SLCO1C1,SLCO1B3,SLCO1B1,SLCO1A2,IAPP,RECQL,ABCC9,ST8SIA1,C2CD5,ETNK1,BCAT1,LRMP,LMNTD1,RASSF8-AS1,ITPR2,TM7SF3,ARNTL2,ARNTL2-AS1,PPFIBP1,KLHL42,FAR2,OVCH1,TMTC1,LINC02386,IPO8,LINC00941,TSPAN11,DDX11-AS1,SINHCAF,AMN1,BICD1,SYT10,ERC1,CACNA1C,TSPAN9,LINC02443,DDX12P,GRIN2B,GUCY2C,EPS8,SLCO1B7,SOX5,SSPN,STK38L,CCDC91,ERGIC2,DENND5B,FGD4,LINC00937,CASC1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004498
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
RNU7-103P,LINC02455,RNU4ATAC16P,HTR1DP1,LINC00942,MIR3649,RPS4XP14,CACNA1C-IT1,CACNA1C-IT2,CACNA1C-AS4,LINC02371,IQSEC3P1,RPL23AP14,CBX3P4,RNU6-1315P,TSPAN9-IT1,LINC02417,RNU6-174P,OTUD4P1,HSPA8P5,KCNA6,RN7SL69P,ATP5MFP5,RN7SL391P,SRP14P1,CD27-AS1,CD27,VAMP1,MRPL51,SCARNA10,NOP2,SCARNA11,ACRBP,PIANP,RNU6-781P,COPS7A,LAG3,RN7SL380P,GPR162,GNB3,TPI1,DSTNP2,C12orf57,RNU7-1,MIR200CHG,MIR200C,MIR141,PHB2,SCARNA12,C1R,RNU6-485P,GAPDHP31,NIFKP3,GDF3,HSPD1P12,POU5F1P3,GCSHP4,ALG1L10P,RPS3AP43,OR7E140P,OR7E148P,RNU6-275P,SUPT4H1P2,AICDA,RPSAP51,A2ML1-AS2,VDAC2P2,A2M-AS1,KRT17P8,BTG1P1,TPT1P12,MIR1244-3,PTMAP4,RNU6-700P,GOT2P3,LINC02390,CD69,KLRF2,LINC02470,CLEC12A-AS1,CLEC12B,RN7SKP161,HNRNPABP1,OLR1,GABARAPL1,LINC02598,KLRC4,LINC02446,KLRA1P,MAGOHB,HSPE1P12,TAS2R7,TAS2R8,TAS2R9,TAS2R10,TAS2R13,PRH2,TAS2R15P,TAS2R50,TAS2R20,TAS2R19,TAS2R31,TAS2R63P,TAS2R46,TAS2R64P,TAS2R30,TAS2R42,PRB3,PRB4,HIGD1AP8,DDX55P1,RNU7-60P,MIR1244-4,RNU6-545P,RNU6-318P,RPL23AP66,LOH12CR2,CDKN1B,MIR613,STX8P1,RPL13AP20,MIR614,HTR7P1,RNA5SP353,RNU6-590P,RN7SKP162,MRPS18CP4,RNU6-491P,GNAI2P1,RPL30P11,RN7SKP134,HIST4H4,H2AFJ,MGP,LINC01489,RERG-IT1,METTL8P1,RNU6-251P,EGLN3P1,EEF1A1P16,RNU6-837P,RPL7P40,TIMM17BP1,MIR3974,NDFIP1P1,ZKSCAN7P1,PSMC1P9,CAPZA3,RPL7P6,MEF2BNBP1,RN7SL459P,RN7SL67P,PDCD5P1,RNU6-254P,EEF1A1P4,RNU1-146P,TCP1P3,LINC02468,UBE2L2,ELOCP31,RNU1-149P,LRRC34P1,RPS27P22,MIR920,KNOP1P1,CENPUP2,RNU4-67P,TUBB4BP1,RN7SKP262,TDGP1,MIR4302,BHLHE41,RNA5SP354,C12orf71,RARSP1,REP15,HMGB1P49,RN7SKP15,RNU4-54P,RNA5SP355,RPL21P99,RNA5SP356,PPIAP44,MREGP1,FLJ13224,LINC02387,RNU6-618P,RNU5F-4P,RPL31P50,AK4P3,STMN1P1,H3F3C,RNU6-1069P,RNU6-494P,RNU6-400P,RNU6-472P,SLC6A12,KDM5A,LINC00940,CACNA1C-IT3,CACNA1C-AS3,CACNA1C-AS2,CACNA1C-AS1,ITFG2-AS1,FKBP4,ITFG2,NRIP2,TEX52,FOXM1,CCND2-AS1,CCND2,FGF23,FGF6,C12orf4,RAD51AP1,AKAP3,NDUFA9,KCNA1,KCNA5,CD9,PLEKHG6,TNFRSF1A,SCNN1A,LTBR,TAPBPL,NCAPD2,GAPDH,CHD4,LPAR5,ING4,MLF2,PTMS,P3H3,CDCA3,USP5,SPSB2,RPL13P5,LRRC23,ENO2,ATN1,EMG1,LPCAT3,C1S,C1RL,C1RL-AS1,RBP5,CLSTN3,ACSM4,APOBEC1,DPPA3,NANOGNB,NANOG,NANOGP1,SLC2A3,FOXJ2,C3AR1,NECAP1,ZNF705A,FAM66C,DEFB109F,FAM90A1,FAM86FP,LINC02449,OR7E149P,CLEC6A,CLEC4E,HADHAP2,A2ML1,PHC1,M6PR,KLRG1,HNRNPA1P34,LINC00612,A2M,A2MP1,LINC00987,LINC02367,KLRB1,CLECL1,CLEC2B,CLEC2A,CLEC1B,CLEC9A,CLEC7A,TMEM52B,KLRD1,KLRK1,KLRC4-KLRK1,KLRC3,KLRC2,KLRC1,EIF2S3B,SLC25A39P2,STYK1,YBX3,LINC02366,PRR4,TAS2R43,SMIM10L1,PRB1,LINC01252,MANSC1,DUSP16,CREBL2,RPL21P136,GPR19,APOLD1,DDX47,GPRC5A,GPRC5D,GSG1,EMP1,LINC01559,PLBD1-AS1,WBP11,ART4,ERP27,PDE6H,RERG-AS1,STRAP,SUPT16HP1,LMO3,PSMC1P8,PLCZ1,PYROXD1,GOLT1B,SPX,GYS2,LDHB,KCNJ8,CMAS,SULT6B2P,SOX5-AS1,LINC00477,RN7SL38P,C12orf77,ETFRF1,KRAS,RASSF8,INTS13,FGFR1OP2,MED21,SMCO2,MRPS35,MANSC4,PTHLH,OVCH1-AS1,CAPRIN2,DDX11,DENND5B-AS1,ETFBKMT,LINC02422,RPL12P32,DNM1L,YARS2,PKP2,SLC6A13,CCDC77,B4GALNT3,NINJ2,WNK1,RAD52,WNT5B,FBXL14,ADIPOR2,CACNA2D4,LRTM2,DCP1B,RHNO1,TULP3,TEAD4,PRMT8,CRACR2A,PARP11,TIGAR,DYRK4,GAU1,GALNT8,NTF3,ANO2,VWF,IFFO1,ZNF384,CD4,PTPN6,PEX5,CD163L1,CD163,CLEC4C,SLC2A14,CLEC4A,ENPP7P5,CLEC4D,MFAP5,RIMKLB,A2ML1-AS1,PZP,CLEC2D,KLRF1,CLEC12A,CLEC1A,PRH1,PRH1-PRR4,TAS2R14,PRB2,ETV6,BCL2L14,LRP6,BORCS5,GPRC5D-AS1,HEBP1,FAM234B,ATF7IP,PLBD1,C12orf60,SMCO3,ARHGDIB,RERG,PTPRO,DERA,SLC15A5,MGST1,LINC02378,RERGL,PIK3C2G,PLEKHA5,AEBP2,LINC02398,PDE3A,SLCO1C1,SLCO1B3,SLCO1B1,SLCO1A2,IAPP,RECQL,ABCC9,ST8SIA1,C2CD5,ETNK1,BCAT1,LRMP,LMNTD1,RASSF8-AS1,ITPR2,TM7SF3,ARNTL2,ARNTL2-AS1,PPFIBP1,KLHL42,FAR2,OVCH1,TMTC1,LINC02386,IPO8,LINC00941,TSPAN11,DDX11-AS1,SINHCAF,AMN1,BICD1,SYT10,ERC1,CACNA1C,TSPAN9,LINC02443,DDX12P,GRIN2B,GUCY2C,EPS8,SLCO1B7,SOX5,SSPN,STK38L,CCDC91,ERGIC2,DENND5B,FGD4,LINC00937,CASC1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005385
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
RNU7-103P,LINC02455,RNU4ATAC16P,HTR1DP1,LINC00942,MIR3649,RPS4XP14,CACNA1C-IT1,CACNA1C-IT2,CACNA1C-AS4,LINC02371,IQSEC3P1,RPL23AP14,CBX3P4,RNU6-1315P,TSPAN9-IT1,LINC02417,RNU6-174P,OTUD4P1,HSPA8P5,KCNA6,RN7SL69P,ATP5MFP5,RN7SL391P,SRP14P1,CD27-AS1,CD27,VAMP1,MRPL51,SCARNA10,NOP2,SCARNA11,ACRBP,PIANP,RNU6-781P,COPS7A,LAG3,RN7SL380P,GPR162,GNB3,TPI1,DSTNP2,C12orf57,RNU7-1,MIR200CHG,MIR200C,MIR141,PHB2,SCARNA12,C1R,RNU6-485P,GAPDHP31,NIFKP3,GDF3,HSPD1P12,POU5F1P3,GCSHP4,ALG1L10P,RPS3AP43,OR7E140P,OR7E148P,RNU6-275P,SUPT4H1P2,AICDA,RPSAP51,A2ML1-AS2,VDAC2P2,A2M-AS1,KRT17P8,BTG1P1,TPT1P12,MIR1244-3,PTMAP4,RNU6-700P,GOT2P3,LINC02390,CD69,KLRF2,LINC02470,CLEC12A-AS1,CLEC12B,RN7SKP161,HNRNPABP1,OLR1,GABARAPL1,LINC02598,KLRC4,LINC02446,KLRA1P,MAGOHB,HSPE1P12,TAS2R7,TAS2R8,TAS2R9,TAS2R10,TAS2R13,PRH2,TAS2R15P,TAS2R50,TAS2R20,TAS2R19,TAS2R31,TAS2R63P,TAS2R46,TAS2R64P,TAS2R30,TAS2R42,PRB3,PRB4,HIGD1AP8,DDX55P1,RNU7-60P,MIR1244-4,RNU6-545P,RNU6-318P,RPL23AP66,LOH12CR2,CDKN1B,MIR613,STX8P1,RPL13AP20,MIR614,HTR7P1,RNA5SP353,RNU6-590P,RN7SKP162,MRPS18CP4,RNU6-491P,GNAI2P1,RPL30P11,RN7SKP134,HIST4H4,H2AFJ,MGP,LINC01489,RERG-IT1,METTL8P1,RNU6-251P,EGLN3P1,EEF1A1P16,RNU6-837P,RPL7P40,TIMM17BP1,MIR3974,NDFIP1P1,ZKSCAN7P1,PSMC1P9,CAPZA3,RPL7P6,MEF2BNBP1,RN7SL459P,RN7SL67P,PDCD5P1,RNU6-254P,EEF1A1P4,RNU1-146P,TCP1P3,LINC02468,UBE2L2,ELOCP31,RNU1-149P,LRRC34P1,RPS27P22,MIR920,KNOP1P1,CENPUP2,RNU4-67P,TUBB4BP1,RN7SKP262,TDGP1,MIR4302,BHLHE41,RNA5SP354,C12orf71,RARSP1,REP15,HMGB1P49,RN7SKP15,RNU4-54P,RNA5SP355,RPL21P99,RNA5SP356,PPIAP44,MREGP1,FLJ13224,LINC02387,RNU6-618P,RNU5F-4P,RPL31P50,AK4P3,STMN1P1,H3F3C,RNU6-1069P,RNU6-494P,RNU6-400P,RNU6-472P,TUBB8P4,RNA5SP357,DUX4L27,AK6P1,SLC6A12,KDM5A,LINC00940,CACNA1C-IT3,CACNA1C-AS3,CACNA1C-AS2,CACNA1C-AS1,ITFG2-AS1,FKBP4,ITFG2,NRIP2,TEX52,FOXM1,CCND2-AS1,CCND2,FGF23,FGF6,C12orf4,RAD51AP1,AKAP3,NDUFA9,KCNA1,KCNA5,CD9,PLEKHG6,TNFRSF1A,SCNN1A,LTBR,TAPBPL,NCAPD2,GAPDH,CHD4,LPAR5,ING4,MLF2,PTMS,P3H3,CDCA3,USP5,SPSB2,RPL13P5,LRRC23,ENO2,ATN1,EMG1,LPCAT3,C1S,C1RL,C1RL-AS1,RBP5,CLSTN3,ACSM4,APOBEC1,DPPA3,NANOGNB,NANOG,NANOGP1,SLC2A3,FOXJ2,C3AR1,NECAP1,ZNF705A,FAM66C,DEFB109F,FAM90A1,FAM86FP,LINC02449,OR7E149P,CLEC6A,CLEC4E,HADHAP2,A2ML1,PHC1,M6PR,KLRG1,HNRNPA1P34,LINC00612,A2M,A2MP1,LINC00987,LINC02367,KLRB1,CLECL1,CLEC2B,CLEC2A,CLEC1B,CLEC9A,CLEC7A,TMEM52B,KLRD1,KLRK1,KLRC4-KLRK1,KLRC3,KLRC2,KLRC1,EIF2S3B,SLC25A39P2,STYK1,YBX3,LINC02366,PRR4,TAS2R43,SMIM10L1,PRB1,LINC01252,MANSC1,DUSP16,CREBL2,RPL21P136,GPR19,APOLD1,DDX47,GPRC5A,GPRC5D,GSG1,EMP1,LINC01559,PLBD1-AS1,WBP11,ART4,ERP27,PDE6H,RERG-AS1,STRAP,SUPT16HP1,LMO3,PSMC1P8,PLCZ1,PYROXD1,GOLT1B,SPX,GYS2,LDHB,KCNJ8,CMAS,SULT6B2P,SOX5-AS1,LINC00477,RN7SL38P,C12orf77,ETFRF1,KRAS,RASSF8,INTS13,FGFR1OP2,MED21,SMCO2,MRPS35,MANSC4,PTHLH,OVCH1-AS1,CAPRIN2,DDX11,DENND5B-AS1,ETFBKMT,LINC02422,RPL12P32,DNM1L,YARS2,PKP2,ALG10,IQSEC3,SLC6A13,CCDC77,B4GALNT3,NINJ2,WNK1,RAD52,WNT5B,FBXL14,ADIPOR2,CACNA2D4,LRTM2,DCP1B,RHNO1,TULP3,TEAD4,PRMT8,CRACR2A,PARP11,TIGAR,DYRK4,GAU1,GALNT8,NTF3,ANO2,VWF,IFFO1,ZNF384,CD4,PTPN6,PEX5,CD163L1,CD163,CLEC4C,SLC2A14,CLEC4A,ENPP7P5,CLEC4D,MFAP5,RIMKLB,A2ML1-AS1,PZP,CLEC2D,KLRF1,CLEC12A,CLEC1A,PRH1,PRH1-PRR4,TAS2R14,PRB2,ETV6,BCL2L14,LRP6,BORCS5,GPRC5D-AS1,HEBP1,FAM234B,ATF7IP,PLBD1,C12orf60,SMCO3,ARHGDIB,RERG,PTPRO,DERA,SLC15A5,MGST1,LINC02378,RERGL,PIK3C2G,PLEKHA5,AEBP2,LINC02398,PDE3A,SLCO1C1,SLCO1B3,SLCO1B1,SLCO1A2,IAPP,RECQL,ABCC9,ST8SIA1,C2CD5,ETNK1,BCAT1,LRMP,LMNTD1,RASSF8-AS1,ITPR2,TM7SF3,ARNTL2,ARNTL2-AS1,PPFIBP1,KLHL42,FAR2,OVCH1,TMTC1,LINC02386,IPO8,LINC00941,TSPAN11,DDX11-AS1,SINHCAF,AMN1,BICD1,SYT10,ERC1,CACNA1C,TSPAN9,LINC02443,DDX12P,GRIN2B,GUCY2C,EPS8,SLCO1B7,SOX5,SSPN,STK38L,CCDC91,ERGIC2,DENND5B,FGD4,LINC00937,CASC1
tzetis_12_DD/ID_discovery_cases-case32
De novo
Unknown
RNU7-103P,LINC02455,RNU4ATAC16P,HTR1DP1,LINC00942,MIR3649,RPS4XP14,CACNA1C-IT1,CACNA1C-IT2,CACNA1C-AS4,LINC02371,IQSEC3P1,RPL23AP14,CBX3P4,RNU6-1315P,TSPAN9-IT1,LINC02417,RNU6-174P,OTUD4P1,HSPA8P5,KCNA6,RN7SL69P,ATP5MFP5,RN7SL391P,SRP14P1,CD27-AS1,CD27,VAMP1,MRPL51,SCARNA10,NOP2,SCARNA11,ACRBP,PIANP,RNU6-781P,COPS7A,LAG3,RN7SL380P,GPR162,GNB3,TPI1,DSTNP2,C12orf57,RNU7-1,MIR200CHG,MIR200C,MIR141,PHB2,SCARNA12,C1R,RNU6-485P,GAPDHP31,NIFKP3,GDF3,HSPD1P12,POU5F1P3,GCSHP4,ALG1L10P,RPS3AP43,OR7E140P,OR7E148P,RNU6-275P,SUPT4H1P2,AICDA,RPSAP51,A2ML1-AS2,VDAC2P2,A2M-AS1,KRT17P8,BTG1P1,TPT1P12,MIR1244-3,PTMAP4,RNU6-700P,GOT2P3,LINC02390,CD69,KLRF2,LINC02470,CLEC12A-AS1,CLEC12B,RN7SKP161,HNRNPABP1,OLR1,GABARAPL1,LINC02598,KLRC4,LINC02446,KLRA1P,MAGOHB,HSPE1P12,TAS2R7,TAS2R8,TAS2R9,TAS2R10,TAS2R13,PRH2,TAS2R15P,TAS2R50,TAS2R20,TAS2R19,TAS2R31,TAS2R63P,TAS2R46,TAS2R64P,TAS2R30,TAS2R42,PRB3,PRB4,HIGD1AP8,DDX55P1,RNU7-60P,MIR1244-4,RNU6-545P,RNU6-318P,RPL23AP66,LOH12CR2,CDKN1B,MIR613,STX8P1,RPL13AP20,MIR614,HTR7P1,RNA5SP353,RNU6-590P,RN7SKP162,MRPS18CP4,RNU6-491P,GNAI2P1,RPL30P11,RN7SKP134,HIST4H4,H2AFJ,MGP,LINC01489,RERG-IT1,METTL8P1,RNU6-251P,EGLN3P1,EEF1A1P16,RNU6-837P,RPL7P40,TIMM17BP1,MIR3974,NDFIP1P1,ZKSCAN7P1,PSMC1P9,CAPZA3,RPL7P6,MEF2BNBP1,RN7SL459P,RN7SL67P,PDCD5P1,RNU6-254P,EEF1A1P4,RNU1-146P,TCP1P3,LINC02468,UBE2L2,ELOCP31,RNU1-149P,LRRC34P1,RPS27P22,MIR920,KNOP1P1,CENPUP2,RNU4-67P,TUBB4BP1,RN7SKP262,TDGP1,MIR4302,BHLHE41,RNA5SP354,C12orf71,RARSP1,REP15,HMGB1P49,RN7SKP15,RNU4-54P,RNA5SP355,RPL21P99,RNA5SP356,PPIAP44,MREGP1,FLJ13224,LINC02387,RNU6-618P,RNU5F-4P,RPL31P50,AK4P3,STMN1P1,H3F3C,RNU6-1069P,RNU6-494P,RNU6-400P,RNU6-472P,TUBB8P4,RNA5SP357,DUX4L27,SLC6A12,KDM5A,LINC00940,CACNA1C-IT3,CACNA1C-AS3,CACNA1C-AS2,CACNA1C-AS1,ITFG2-AS1,FKBP4,ITFG2,NRIP2,TEX52,FOXM1,CCND2-AS1,CCND2,FGF23,FGF6,C12orf4,RAD51AP1,AKAP3,NDUFA9,KCNA1,KCNA5,CD9,PLEKHG6,TNFRSF1A,SCNN1A,LTBR,TAPBPL,NCAPD2,GAPDH,CHD4,LPAR5,ING4,MLF2,PTMS,P3H3,CDCA3,USP5,SPSB2,RPL13P5,LRRC23,ENO2,ATN1,EMG1,LPCAT3,C1S,C1RL,C1RL-AS1,RBP5,CLSTN3,ACSM4,APOBEC1,DPPA3,NANOGNB,NANOG,NANOGP1,SLC2A3,FOXJ2,C3AR1,NECAP1,ZNF705A,FAM66C,DEFB109F,FAM90A1,FAM86FP,LINC02449,OR7E149P,CLEC6A,CLEC4E,HADHAP2,A2ML1,PHC1,M6PR,KLRG1,HNRNPA1P34,LINC00612,A2M,A2MP1,LINC00987,LINC02367,KLRB1,CLECL1,CLEC2B,CLEC2A,CLEC1B,CLEC9A,CLEC7A,TMEM52B,KLRD1,KLRK1,KLRC4-KLRK1,KLRC3,KLRC2,KLRC1,EIF2S3B,SLC25A39P2,STYK1,YBX3,LINC02366,PRR4,TAS2R43,SMIM10L1,PRB1,LINC01252,MANSC1,DUSP16,CREBL2,RPL21P136,GPR19,APOLD1,DDX47,GPRC5A,GPRC5D,GSG1,EMP1,LINC01559,PLBD1-AS1,WBP11,ART4,ERP27,PDE6H,RERG-AS1,STRAP,SUPT16HP1,LMO3,PSMC1P8,PLCZ1,PYROXD1,GOLT1B,SPX,GYS2,LDHB,KCNJ8,CMAS,SULT6B2P,SOX5-AS1,LINC00477,RN7SL38P,C12orf77,ETFRF1,KRAS,RASSF8,INTS13,FGFR1OP2,MED21,SMCO2,MRPS35,MANSC4,PTHLH,OVCH1-AS1,CAPRIN2,DDX11,DENND5B-AS1,ETFBKMT,LINC02422,RPL12P32,DNM1L,YARS2,PKP2,ALG10,IQSEC3,SLC6A13,CCDC77,B4GALNT3,NINJ2,WNK1,RAD52,WNT5B,FBXL14,ADIPOR2,CACNA2D4,LRTM2,DCP1B,RHNO1,TULP3,TEAD4,PRMT8,CRACR2A,PARP11,TIGAR,DYRK4,GAU1,GALNT8,NTF3,ANO2,VWF,IFFO1,ZNF384,CD4,PTPN6,PEX5,CD163L1,CD163,CLEC4C,SLC2A14,CLEC4A,ENPP7P5,CLEC4D,MFAP5,RIMKLB,A2ML1-AS1,PZP,CLEC2D,KLRF1,CLEC12A,CLEC1A,PRH1,PRH1-PRR4,TAS2R14,PRB2,ETV6,BCL2L14,LRP6,BORCS5,GPRC5D-AS1,HEBP1,FAM234B,ATF7IP,PLBD1,C12orf60,SMCO3,ARHGDIB,RERG,PTPRO,DERA,SLC15A5,MGST1,LINC02378,RERGL,PIK3C2G,PLEKHA5,AEBP2,LINC02398,PDE3A,SLCO1C1,SLCO1B3,SLCO1B1,SLCO1A2,IAPP,RECQL,ABCC9,ST8SIA1,C2CD5,ETNK1,BCAT1,LRMP,LMNTD1,RASSF8-AS1,ITPR2,TM7SF3,ARNTL2,ARNTL2-AS1,PPFIBP1,KLHL42,FAR2,OVCH1,TMTC1,LINC02386,IPO8,LINC00941,TSPAN11,DDX11-AS1,SINHCAF,AMN1,BICD1,SYT10,ERC1,CACNA1C,TSPAN9,LINC02443,DDX12P,GRIN2B,GUCY2C,EPS8,SLCO1B7,SOX5,SSPN,STK38L,CCDC91,ERGIC2,DENND5B,FGD4,LINC00937,CASC1
Controls
No Control Data Available
No Animal Model Data Available