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