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Development disorder
Disease Term
Disease ID
Gene Symbol
References
Child Development Disorders, Pervasive
C0008074
ANK3
23453885
RERE
28540026
,
23453885
ATP2B2
28540026
C2
28540026
CACNA1C
23453885
,
28540026
DDR1
28540026
CACNB2
23453885
,
28540026
CHRNA3
28540026
CHRNA5
28540026
CLCN3
28540026
CYP2D7
28540026
CYP21A2
28540026
DPYD
28540026
DRD4
20731709
EGR2
30804558
ETF1
28540026
F2
28540026
FGFR1
28540026
FHIT
28540026
GABBR1
30804558
GALNT1
30804558
GRM3
28540026
HFE
28540026
HLA-A
28540026
HLA-B
28540026
HLA-DMA
28540026
HLA-DMB
23453885
,
28540026
HLA-DQA1
28540026
HLA-DQA2
28540026
HLA-DQB1
28540026
HLA-DRB1
28540026
HLA-DRB2
28540026
HLA-DRB3
28540026
HLA-DRB5
28540026
HLA-DRB6
28540026
HLA-DRB9
28540026
ITIH3
28540026
,
23453885
STT3A
23453885
KLC1
28540026
MAPT
30804558
MDK
28540026
MECP2
22231481
MMP16
28540026
MSH5
28540026
NOTCH4
28540026
NRGN
28540026
,
30804558
FURIN
28540026
PBX2
28540026
PCDH9
30804558
PHB
28533516
PRKG1
28540026
PSMB9
28540026
SRPK2
28540026
TCF4
28540026
,
23453885
TCF20
28540026
TNXB
28540026
VRK2
28540026
TRIM26
23453885
,
28540026
ZSCAN9
28540026
PRRC2A
28540026
H2AC10P
28540026
H2BC15
28540026
MAD1L1
28540026
CMAHP
28540026
PKP4
30804558
CADPS
30804558
SYNGAP1
28540026
CACNA1I
28540026
DGKI
28540026
RGS6
28540026
FEZ1
23453885
SNAP91
28540026
TRIM10
28540026
MPHOSPH9
28540026
STAG1
28540026
BTN2A2
28540026
OLFM4
30804558
TSBP1
28540026
HCP5
28540026
EHMT2
28540026
TRIM31
28540026
BTN3A2
28540026
BTN3A1
28540026
BTN2A1
28540026
TWF2
28540026
NT5C2
28540026
,
23453885
SORCS3
30804558
CNOT1
28540026
SYNE1
23453885
PPP1R13B
28540026
ZFPM2
23453885
NGEF
28540026
MOB4
28540026
TENM4
23453885
GIGYF2
28540026
FOXP1
28540026
POLR1H
23453885
TMX2
28540026
PALS2
23453885
KDM3B
28540026
CNNM2
23453885
ZNF823
28540026
GALNT10
28540026
CARMIL1
28540026
KIZ
30804558
KMT2E
30804558
AS3MT
23453885
GRAMD1B
28540026
MRTFB
20442744
MRTFA
28540026
ZSWIM6
28540026
SRR
28540026
CSMD1
23453885
CUEDC2
25534755
MAIP1
28540026
ATAT1
28540026
ZKSCAN3
28540026
OR5V1
28540026
OR12D3
28540026
IMMP2L
28540026
COA8
28540026
ADTRP
30804558
RFT1
28540026
POM121L2
28540026
ZBED9
28540026
TMEM219
28540026
MUCL3
28540026
,
23453885
MACROD2
30804558
CNTN4
28540026
PSORS1C1
28540026
TSNARE1
28540026
NEGR1
30804558
KANSL1
30804558
LINC00907
26314684
ZNF615
23453885
HCN1
28540026
ZNF568
30804558
GUSBP2
28540026
BEND4
30804558
SFTA2
28540026
,
23453885
SERPINA2
30804558
MIR137HG
23453885
,
28540026
LINC00243
28540026
MTCO3P1
28540026
GGNBP1
28540026
ZSCAN16-AS1
28540026
INHCAP
25534755
ACTG1P22
28540026
LINC00240
28540026
LINC02551
28540026
MUC22
28540026
BORCS7-ASMT
23453885
HSPE1-MOB4
28540026
MSH5-SAPCD1
28540026
LINC01470
28540026
EP300-AS1
28540026
SMIM15-AS1
28540026
TSBP1-AS1
28540026
MEF2C-AS1
28540026
C2-AS1
28540026
RERE-AS1
28540026
PAUPAR
30804558
LINC02829
28540026
LINC02571
28540026
LINC02797
28540026
LINC02057
28540026
LINC02058
30804558
GRM3-AS1
28540026
Developmental Disabilities
C0008073
KIF1A
30559488
CBL
20694012
CHD4
30559488
CHRNA4
20805988
DRD2
21592505
KCNQ2
20805988
,
27602407
LRP2
17632512
MECP2
19559301
NTRK2
15494731
PMP22
17275665
MAPK3
30559488
PTEN
19265751
,
19321504
,
18759867
SLC2A1
9462754
,
10980529
,
11603379
SLC6A8
11326334
TBCD
27666370
SLC4A4
18614622
SLC33A1
22243965
SETD1A
26974950
STAMBP
23542699
MSL3
30224647
PNKP
20118933
NANS
27213289
ARFGAP1
20805988
AS3MT
28235556
KCNT1
23086397
WDFY4
30559488
CAMKMT
26247364
DOCK8
18060736
SHANK3
16284256
CNTN4
15106122
Child Development Deviations
C0085996
KIF1A
30559488
CBL
20694012
CHD4
30559488
CHRNA4
20805988
DRD2
21592505
KCNQ2
27602407
,
20805988
LRP2
17632512
MECP2
19559301
NTRK2
15494731
PMP22
17275665
MAPK3
30559488
PTEN
18759867
,
19321504
,
19265751
SLC2A1
10980529
,
11603379
,
9462754
SLC6A8
11326334
TBCD
27666370
SLC4A4
18614622
SLC33A1
22243965
STAMBP
23542699
MSL3
30224647
PNKP
20118933
NANS
27213289
ARFGAP1
20805988
AS3MT
28235556
KCNT1
23086397
WDFY4
30559488
CAMKMT
26247364
DOCK8
18060736
SHANK3
16284256
CNTN4
15106122
Child Development Disorders, Specific
C0085997
KIF1A
30559488
CBL
20694012
CHD4
30559488
CHRNA4
20805988
DRD2
21592505
KCNQ2
27602407
,
20805988
LRP2
17632512
MECP2
19559301
NTRK2
15494731
PMP22
17275665
MAPK3
30559488
PTEN
19321504
,
19265751
,
18759867
SLC2A1
9462754
,
11603379
,
10980529
SLC6A8
11326334
TBCD
27666370
SLC4A4
18614622
SLC33A1
22243965
STAMBP
23542699
MSL3
30224647
PNKP
20118933
NANS
27213289
ARFGAP1
20805988
AS3MT
28235556
KCNT1
23086397
WDFY4
30559488
CAMKMT
26247364
DOCK8
18060736
SHANK3
16284256
CNTN4
15106122