Disease Information |
Disease Name |
Gene Name |
Type |
UMLS |
Association Type |
Score |
Source |
Developmental Disabilities |
PTEN |
group |
C0008073 |
CausalMutation |
0.41 |
disgenet |
Developmental Disabilities |
PTEN |
group |
C0008073 |
Biomarker |
0.41 |
disgenet |
Developmental Disabilities |
MECP2 |
group |
C0008073 |
GeneticVariation |
0.38 |
disgenet |
Developmental Disabilities |
MECP2 |
group |
C0008073 |
Biomarker |
0.38 |
disgenet |
Developmental Disabilities |
MECP2 |
group |
C0008073 |
AlteredExpression |
0.38 |
disgenet |
Developmental Disabilities |
SHANK3 |
group |
C0008073 |
GeneticVariation |
0.32 |
disgenet |
Developmental Disabilities |
SETD1A |
group |
C0008073 |
GeneticVariation |
0.32 |
disgenet |
Developmental Disabilities |
SHANK3 |
group |
C0008073 |
Biomarker |
0.32 |
disgenet |
Developmental Disabilities |
SETD1A |
group |
C0008073 |
Biomarker |
0.32 |
disgenet |
Developmental Disabilities |
SLC6A8 |
group |
C0008073 |
GeneticVariation |
0.31 |
disgenet |
Developmental Disabilities |
DOCK8 |
group |
C0008073 |
Biomarker |
0.31 |
disgenet |
Developmental Disabilities |
SLC6A8 |
group |
C0008073 |
Biomarker |
0.31 |
disgenet |
Developmental Disabilities |
STAMBP |
group |
C0008073 |
Biomarker |
0.3 |
disgenet |
Developmental Disabilities |
KIF1A |
group |
C0008073 |
Biomarker |
0.3 |
disgenet |
Developmental Disabilities |
SLC2A1 |
group |
C0008073 |
Biomarker |
0.3 |
disgenet |
Developmental Disabilities |
SLC4A4 |
group |
C0008073 |
Biomarker |
0.3 |
disgenet |
Developmental Disabilities |
CNTN4 |
group |
C0008073 |
Biomarker |
0.3 |
disgenet |
Developmental Disabilities |
MSL3 |
group |
C0008073 |
Biomarker |
0.3 |
disgenet |
Developmental Disabilities |
CHRNA4 |
group |
C0008073 |
Biomarker |
0.3 |
disgenet |
Developmental Disabilities |
KCNQ2 |
group |
C0008073 |
Biomarker |
0.3 |
disgenet |
Developmental Disabilities |
PMP22 |
group |
C0008073 |
Biomarker |
0.3 |
disgenet |
Developmental Disabilities |
AS3MT |
group |
C0008073 |
Biomarker |
0.3 |
disgenet |
Developmental Disabilities |
KCNT1 |
group |
C0008073 |
Biomarker |
0.3 |
disgenet |
Developmental Disabilities |
WDFY4 |
group |
C0008073 |
Biomarker |
0.3 |
disgenet |
Developmental Disabilities |
TBCD |
group |
C0008073 |
Biomarker |
0.3 |
disgenet |
Developmental Disabilities |
NANS |
group |
C0008073 |
Biomarker |
0.3 |
disgenet |
Developmental Disabilities |
CBL |
group |
C0008073 |
Biomarker |
0.3 |
disgenet |
Developmental Disabilities |
PNKP |
group |
C0008073 |
Biomarker |
0.3 |
disgenet |
Developmental Disabilities |
NTRK2 |
group |
C0008073 |
Biomarker |
0.3 |
disgenet |
Developmental Disabilities |
LRP2 |
group |
C0008073 |
Biomarker |
0.3 |
disgenet |
Developmental Disabilities |
MAPK3 |
group |
C0008073 |
Biomarker |
0.3 |
disgenet |
Developmental Disabilities |
CHD4 |
group |
C0008073 |
Biomarker |
0.3 |
disgenet |
Developmental Disabilities |
DRD2 |
group |
C0008073 |
Biomarker |
0.3 |
disgenet |
Developmental Disabilities |
CAMKMT |
group |
C0008073 |
Biomarker |
0.3 |
disgenet |
Developmental Disabilities |
ARFGAP1 |
group |
C0008073 |
Biomarker |
0.3 |
disgenet |
Developmental Disabilities |
SLC33A1 |
group |
C0008073 |
Biomarker |
0.3 |
disgenet |
Developmental Disabilities |
PTPN11 |
group |
C0008073 |
GeneticVariation |
0.1 |
disgenet |
Developmental Disabilities |
PTPN11 |
group |
C0008073 |
Biomarker |
0.1 |
disgenet |
Developmental Disabilities |
FMR1 |
group |
C0008073 |
GeneticVariation |
0.09 |
disgenet |
Developmental Disabilities |
FMR1 |
group |
C0008073 |
Biomarker |
0.09 |
disgenet |
Developmental Disabilities |
FGD1 |
group |
C0008073 |
GeneticVariation |
0.05 |
disgenet |
Developmental Disabilities |
CHD7 |
group |
C0008073 |
GeneticVariation |
0.05 |
disgenet |
Developmental Disabilities |
CREBBP |
group |
C0008073 |
GeneticVariation |
0.05 |
disgenet |
Developmental Disabilities |
CREBBP |
group |
C0008073 |
Biomarker |
0.05 |
disgenet |
Developmental Disabilities |
CHD7 |
group |
C0008073 |
Biomarker |
0.05 |
disgenet |
Developmental Disabilities |
TP63 |
group |
C0008073 |
GeneticVariation |
0.05 |
disgenet |
Developmental Disabilities |
KRAS |
group |
C0008073 |
GeneticVariation |
0.04 |
disgenet |
Developmental Disabilities |
PAX6 |
group |
C0008073 |
Biomarker |
0.04 |
disgenet |
Developmental Disabilities |
ELN |
group |
C0008073 |
GeneticVariation |
0.04 |
disgenet |
Developmental Disabilities |
FOXF1 |
group |
C0008073 |
Biomarker |
0.04 |
disgenet |
Developmental Disabilities |
NIPBL |
group |
C0008073 |
GeneticVariation |
0.04 |
disgenet |
Developmental Disabilities |
PITX2 |
group |
C0008073 |
AlteredExpression |
0.04 |
disgenet |
Developmental Disabilities |
PAX6 |
group |
C0008073 |
GeneticVariation |
0.04 |
disgenet |
Developmental Disabilities |
FOXF1 |
group |
C0008073 |
GeneticVariation |
0.04 |
disgenet |
Developmental Disabilities |
PITX2 |
group |
C0008073 |
GeneticVariation |
0.04 |
disgenet |
Developmental Disabilities |
KRAS |
group |
C0008073 |
Biomarker |
0.04 |
disgenet |
Developmental Disabilities |
FOXL2 |
group |
C0008073 |
GeneticVariation |
0.03 |
disgenet |
Developmental Disabilities |
FOXL2 |
group |
C0008073 |
Biomarker |
0.03 |
disgenet |
Developmental Disabilities |
CDC42 |
group |
C0008073 |
Biomarker |
0.03 |
disgenet |
Developmental Disabilities |
RNU4ATAC |
group |
C0008073 |
Biomarker |
0.03 |
disgenet |
Developmental Disabilities |
CDC42 |
group |
C0008073 |
GeneticVariation |
0.03 |
disgenet |
Developmental Disabilities |
RNU4ATAC |
group |
C0008073 |
GeneticVariation |
0.03 |
disgenet |
Developmental Disabilities |
KRT5 |
group |
C0008073 |
GeneticVariation |
0.03 |
disgenet |
Developmental Disabilities |
RAC1 |
group |
C0008073 |
Biomarker |
0.03 |
disgenet |
Developmental Disabilities |
ARSD |
group |
C0008073 |
AlteredExpression |
0.03 |
disgenet |
Developmental Disabilities |
KRT5 |
group |
C0008073 |
Biomarker |
0.03 |
disgenet |
Developmental Disabilities |
FOXP2 |
group |
C0008073 |
GeneticVariation |
0.03 |
disgenet |
Developmental Disabilities |
KCNK9 |
group |
C0008073 |
GeneticVariation |
0.03 |
disgenet |
Developmental Disabilities |
ARSD |
group |
C0008073 |
Biomarker |
0.03 |
disgenet |
Developmental Disabilities |
FOXP2 |
group |
C0008073 |
Biomarker |
0.03 |
disgenet |
Developmental Disabilities |
RAC1 |
group |
C0008073 |
GeneticVariation |
0.03 |
disgenet |
Developmental Disabilities |
ACTB |
group |
C0008073 |
GeneticVariation |
0.03 |
disgenet |
Developmental Disabilities |
ZACN |
group |
C0008073 |
Biomarker |
0.02 |
disgenet |
Developmental Disabilities |
ATRX |
group |
C0008073 |
Biomarker |
0.02 |
disgenet |
Developmental Disabilities |
PAG1 |
group |
C0008073 |
GeneticVariation |
0.02 |
disgenet |
Developmental Disabilities |
ATRX |
group |
C0008073 |
GeneticVariation |
0.02 |
disgenet |
Developmental Disabilities |
PIK3CA |
group |
C0008073 |
Biomarker |
0.02 |
disgenet |
Developmental Disabilities |
PLAGL1 |
group |
C0008073 |
Biomarker |
0.02 |
disgenet |
Developmental Disabilities |
PIK3CA |
group |
C0008073 |
GeneticVariation |
0.02 |
disgenet |
Developmental Disabilities |
FOXC1 |
group |
C0008073 |
GeneticVariation |
0.02 |
disgenet |
Developmental Disabilities |
RAD51 |
group |
C0008073 |
Biomarker |
0.02 |
disgenet |
Developmental Disabilities |
HTC2 |
group |
C0008073 |
Biomarker |
0.02 |
disgenet |
Developmental Disabilities |
PAG1 |
group |
C0008073 |
Biomarker |
0.02 |
disgenet |
Developmental Disabilities |
COG6 |
group |
C0008073 |
Biomarker |
0.02 |
disgenet |
Developmental Disabilities |
GLI1 |
group |
C0008073 |
Biomarker |
0.02 |
disgenet |
Developmental Disabilities |
PLAGL1 |
group |
C0008073 |
GeneticVariation |
0.02 |
disgenet |
Developmental Disabilities |
MED13L |
group |
C0008073 |
Biomarker |
0.02 |
disgenet |
Developmental Disabilities |
ZEB2 |
group |
C0008073 |
GeneticVariation |
0.02 |
disgenet |
Developmental Disabilities |
DYRK1A |
group |
C0008073 |
GeneticVariation |
0.02 |
disgenet |
Developmental Disabilities |
GLI1 |
group |
C0008073 |
AlteredExpression |
0.02 |
disgenet |
Developmental Disabilities |
CILK1 |
group |
C0008073 |
Biomarker |
0.02 |
disgenet |
Developmental Disabilities |
HIRA |
group |
C0008073 |
AlteredExpression |
0.02 |
disgenet |
Developmental Disabilities |
RPE65 |
group |
C0008073 |
GeneticVariation |
0.02 |
disgenet |
Developmental Disabilities |
IGF2 |
group |
C0008073 |
GeneticVariation |
0.02 |
disgenet |
Developmental Disabilities |
IGF2 |
group |
C0008073 |
Biomarker |
0.02 |
disgenet |
Developmental Disabilities |
ZEB2 |
group |
C0008073 |
Biomarker |
0.02 |
disgenet |
Developmental Disabilities |
CKAP4 |
group |
C0008073 |
GeneticVariation |
0.02 |
disgenet |
Developmental Disabilities |
COG6 |
group |
C0008073 |
GeneticVariation |
0.02 |
disgenet |
Developmental Disabilities |
HNF1B |
group |
C0008073 |
GeneticVariation |
0.02 |
disgenet |
Developmental Disabilities |
CILK1 |
group |
C0008073 |
GeneticVariation |
0.02 |
disgenet |
Developmental Disabilities |
RAD51 |
group |
C0008073 |
GeneticVariation |
0.02 |
disgenet |
Developmental Disabilities |
NRAS |
group |
C0008073 |
GeneticVariation |
0.02 |
disgenet |
Developmental Disabilities |
SOX2 |
group |
C0008073 |
GeneticVariation |
0.02 |
disgenet |
Developmental Disabilities |
CLN3 |
group |
C0008073 |
GeneticVariation |
0.02 |
disgenet |
Developmental Disabilities |
HIRA |
group |
C0008073 |
GeneticVariation |
0.02 |
disgenet |
Developmental Disabilities |
RAI1 |
group |
C0008073 |
Biomarker |
0.02 |
disgenet |
Developmental Disabilities |
BBS2 |
group |
C0008073 |
GeneticVariation |
0.02 |
disgenet |
Developmental Disabilities |
ASXL1 |
group |
C0008073 |
GeneticVariation |
0.02 |
disgenet |
Developmental Disabilities |
NOTCH3 |
group |
C0008073 |
GeneticVariation |
0.02 |
disgenet |
Developmental Disabilities |
TPP1 |
group |
C0008073 |
GeneticVariation |
0.02 |
disgenet |
Developmental Disabilities |
NOTCH3 |
group |
C0008073 |
Biomarker |
0.02 |
disgenet |
Developmental Disabilities |
SNAP25 |
group |
C0008073 |
GeneticVariation |
0.02 |
disgenet |
Developmental Disabilities |
KCNQ3 |
group |
C0008073 |
Biomarker |
0.02 |
disgenet |
Developmental Disabilities |
FGFR2 |
group |
C0008073 |
GeneticVariation |
0.02 |
disgenet |
Developmental Disabilities |
PQBP1 |
group |
C0008073 |
GeneticVariation |
0.02 |
disgenet |
Developmental Disabilities |
BBS2 |
group |
C0008073 |
Biomarker |
0.02 |
disgenet |
Developmental Disabilities |
DENR |
group |
C0008073 |
GeneticVariation |
0.02 |
disgenet |
Developmental Disabilities |
DENR |
group |
C0008073 |
Biomarker |
0.02 |
disgenet |
Developmental Disabilities |
MID1 |
group |
C0008073 |
Biomarker |
0.02 |
disgenet |
Developmental Disabilities |
KCNQ3 |
group |
C0008073 |
GeneticVariation |
0.02 |
disgenet |
Developmental Disabilities |
PQBP1 |
group |
C0008073 |
Biomarker |
0.02 |
disgenet |
Developmental Disabilities |
FGFR2 |
group |
C0008073 |
Biomarker |
0.02 |
disgenet |
Developmental Disabilities |
ZACN |
group |
C0008073 |
GeneticVariation |
0.02 |
disgenet |
Developmental Disabilities |
TFE3 |
group |
C0008073 |
GeneticVariation |
0.02 |
disgenet |
Developmental Disabilities |
JAG1 |
group |
C0008073 |
GeneticVariation |
0.02 |
disgenet |
Developmental Disabilities |
FOXG1 |
group |
C0008073 |
Biomarker |
0.02 |
disgenet |
Developmental Disabilities |
FOLR1 |
group |
C0008073 |
Biomarker |
0.02 |
disgenet |
Developmental Disabilities |
IKBKG |
group |
C0008073 |
GeneticVariation |
0.02 |
disgenet |
Developmental Disabilities |
MID1 |
group |
C0008073 |
GeneticVariation |
0.02 |
disgenet |
Developmental Disabilities |
PUM1 |
group |
C0008073 |
GeneticVariation |
0.02 |
orphanet , disgenet |
Developmental Disabilities |
EIF4E |
group |
C0008073 |
Biomarker |
0.02 |
disgenet |
Developmental Disabilities |
PCBP4 |
group |
C0008073 |
GeneticVariation |
0.02 |
disgenet |
Developmental Disabilities |
MTOR |
group |
C0008073 |
Biomarker |
0.02 |
disgenet |
Developmental Disabilities |
FRAXE |
group |
C0008073 |
Biomarker |
0.02 |
disgenet |
Developmental Disabilities |
OPN1LW |
group |
C0008073 |
Biomarker |
0.02 |
disgenet |
Developmental Disabilities |
PTCH1 |
group |
C0008073 |
AlteredExpression |
0.02 |
disgenet |
Developmental Disabilities |
GNAS |
group |
C0008073 |
GeneticVariation |
0.02 |
disgenet |
Developmental Disabilities |
TBX3 |
group |
C0008073 |
GeneticVariation |
0.02 |
disgenet |
Developmental Disabilities |
OPN1LW |
group |
C0008073 |
GeneticVariation |
0.02 |
disgenet |
Developmental Disabilities |
GJB2 |
group |
C0008073 |
Biomarker |
0.02 |
disgenet |
Developmental Disabilities |
FRAXE |
group |
C0008073 |
GeneticVariation |
0.02 |
disgenet |
Developmental Disabilities |
PCBP4 |
group |
C0008073 |
Biomarker |
0.02 |
disgenet |
Developmental Disabilities |
PUM1 |
group |
C0008073 |
Biomarker |
0.02 |
orphanet , disgenet |
Developmental Disabilities |
FOXG1 |
group |
C0008073 |
GeneticVariation |
0.02 |
disgenet |
Developmental Disabilities |
NR0B1 |
group |
C0008073 |
GeneticVariation |
0.02 |
disgenet |
Developmental Disabilities |
UVRAG |
group |
C0008073 |
GeneticVariation |
0.02 |
disgenet |
Developmental Disabilities |
TBX2 |
group |
C0008073 |
GeneticVariation |
0.02 |
disgenet |
Developmental Disabilities |
EIF4E |
group |
C0008073 |
GeneticVariation |
0.02 |
disgenet |
Developmental Disabilities |
SPECC1L |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
RPS23 |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
TRIM32 |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
H1-4 |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
PROK2 |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
KDM3A |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
KMT2B |
group |
C0008073 |
AlteredExpression |
0.01 |
disgenet |
Developmental Disabilities |
CDK8 |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
TGM5 |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
TBK1 |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
RARA |
group |
C0008073 |
AlteredExpression |
0.01 |
disgenet |
Developmental Disabilities |
SMC3 |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
CNOT3 |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
LINC00299 |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
TGIF1 |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
DPYD |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
DNM1L |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
SYNGAP1 |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
PIFO |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
PRRT2 |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
ERCC2 |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
MAPK1 |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
PRDM13 |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
GTF2H5 |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
NR4A2 |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
RET |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
SMCHD1 |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
PKD1 |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
DLG2 |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
DOCK3 |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
SCN2A |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
MIPOL1 |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
KCNJ6 |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
ATP2A2 |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
PDC |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
TBL1XR1 |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
CDK13 |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
SETBP1 |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
GTF2H4 |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
VEGFA |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
MYRF |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
KIAA0586 |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
ARX |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
CDKL5 |
group |
C0008073 |
AlteredExpression |
0.01 |
disgenet |
Developmental Disabilities |
KCNH1 |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
SHH |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
AVP |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
BRAF |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
ADRA2B |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
PTPRG |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
KITLG |
group |
C0008073 |
AlteredExpression |
0.01 |
disgenet |
Developmental Disabilities |
AHR |
group |
C0008073 |
AlteredExpression |
0.01 |
disgenet |
Developmental Disabilities |
ERCC3 |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
EGFR |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
PIK3CB |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
MASP1 |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
DHCR7 |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
RALA |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
KDM3B |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
G6PC3 |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
MAP3K7 |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
NDN |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
GDF3 |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
BDNF |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
KMT5B |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
MTA2 |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
EIF2B1 |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
GLI2 |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
EDNRA |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
GTF2IRD1 |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
ZMYND11 |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
NUFIP2 |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
FREM3 |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
GJA1 |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
KMT2C |
group |
C0008073 |
AlteredExpression |
0.01 |
disgenet |
Developmental Disabilities |
DGCR2 |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
MEIS1 |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
GTF2H2 |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
POLR1C |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
PDE4D |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
KIAA0319 |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
DSTYK |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
PCLO |
group |
C0008073 |
AlteredExpression |
0.01 |
disgenet |
Developmental Disabilities |
IL10 |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
ESCO2 |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
KCNMA1 |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
MAP2K2 |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
CADPS2 |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
MYO18B |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
KIT |
group |
C0008073 |
AlteredExpression |
0.01 |
disgenet |
Developmental Disabilities |
LINC01082 |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
AHI1 |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
AGPAT4 |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
STX1A |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
SSTR4 |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
FZD5 |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
AKR1A1 |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
RABL6 |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
FGF10 |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
FMR1-IT1 |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
TMCO1 |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
SMG9 |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
POLR3K |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
IL6 |
group |
C0008073 |
AlteredExpression |
0.01 |
disgenet |
Developmental Disabilities |
DNMT3A |
group |
C0008073 |
AlteredExpression |
0.01 |
disgenet |
Developmental Disabilities |
LHX3 |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
MAST1 |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
ADAM10 |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
SIX6 |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
MAP1LC3C |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
PIGA |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
CPXM2 |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
HCCS |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
CRMP1 |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
PEG13 |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
KMT2D |
group |
C0008073 |
AlteredExpression |
0.01 |
disgenet |
Developmental Disabilities |
EPHB2 |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
PLXNA1 |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
EXT2 |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
HRAS |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
NAA10 |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
CPA6 |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
ARID1B |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
RAB39B |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
NOTCH1 |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
BABAM2 |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
SMAD4 |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
TBX4 |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
FRAXA |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
CASP9 |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
ROBO1 |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
CLIC2 |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
EHMT1 |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
GPR42 |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
KDM5B |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
WDR81 |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
HIC1 |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
GLI3 |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
KCNQ1 |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
EMG1 |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
STIM1 |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
DIO3 |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
TBX5 |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
DAPK2 |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
PUF60 |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
CFP |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
ACVR1 |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
PART1 |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
RNF135 |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
NR2F1 |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
PDLIM1 |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
TYR |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
USP9X |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
CYP26C1 |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
AFF2 |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
CETN3 |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
UBA5 |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
ANOS1 |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
TRIM71 |
group |
C0008073 |
AlteredExpression |
0.01 |
disgenet |
Developmental Disabilities |
GPT2 |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
CXCR6 |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
MTHFR |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
COLEC11 |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
MAP2K7 |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
GRIN2B |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
NF1 |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
TWIST1 |
group |
C0008073 |
AlteredExpression |
0.01 |
disgenet |
Developmental Disabilities |
PPT1 |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
PMM2 |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
RBM20 |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
DACH1 |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
SMPD4 |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
CPT1A |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
VPS13B |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
VCP |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
IGF1 |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
UROD |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
PIK3CG |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
FGFR3 |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
HLTF |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
HNRNPR |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
CTNNB1 |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
PRUNE1 |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
UBE3A |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
NRXN1 |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
ADRA1A |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
RAB23 |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
MT1B |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
UTRN |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
MTTP |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
OFD1 |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
CSNK2A1 |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
POTEF |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
FAT1 |
group |
C0008073 |
AlteredExpression |
0.01 |
disgenet |
Developmental Disabilities |
SRCAP |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
KCNC3 |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
EIF2B4 |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
ZBTB18 |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
KMT2A |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
WT1 |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
SOX11 |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
ZBTB7A |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
SLC6A3 |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
GJB6 |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
KAT6B |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
BRS3 |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
LPAR2 |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
ATP2C1 |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
ADSL |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
INPP5E |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
RELN |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
CSPP1 |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
COL9A3 |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
ACKR3 |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
APP |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
GTF2H3 |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
PTPA |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
NRG1 |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
SET |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
SOX10 |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
LONP1 |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
CFDP1 |
group |
C0008073 |
AlteredExpression |
0.01 |
disgenet |
Developmental Disabilities |
BMPER |
group |
C0008073 |
AlteredExpression |
0.01 |
disgenet |
Developmental Disabilities |
EIF2S2 |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
DLK1 |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
POLD1 |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
ZRANB3 |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
PIK3CD |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
AKT3 |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
GTF2H1 |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
SMARCAL1 |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
GABRD |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
MIR34A |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
ZBTB20 |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
BCL6 |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
ITPR1 |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
AHDC1 |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
FZD1 |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
KPNA7 |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
PCDH12 |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
ARHGAP31 |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
SMC1A |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
EIF2B2 |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
RABL3 |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
GLYATL1 |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
PTGS2 |
group |
C0008073 |
AlteredExpression |
0.01 |
disgenet |
Developmental Disabilities |
SALL4 |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
TAF1 |
group |
C0008073 |
Biomarker |
0.01 |
disgenet |
Developmental Disabilities |
ATP1A3 |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
CACNA1E |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
LINC01081 |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
TCF4 |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
SLC17A5 |
group |
C0008073 |
GeneticVariation |
0.01 |
disgenet |
Developmental Disabilities |
ZC4H2 |
NA |
C0008073 |
NA |
NA |
orphanet |
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