Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 50506
Gene Symbol: DUOX2
DUOX2
dual oxidase 2 0.598 0.690 2.6E-56
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 0 0
Entrez Id: 27247
Gene Symbol: NFU1
NFU1
NFU1 iron-sulfur cluster scaffold 0.762 0.241 5.1E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 0 0
Entrez Id: 27229
Gene Symbol: TUBGCP4
TUBGCP4
tubulin gamma complex associated protein 4 0.713 0.345 4.5E-09
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 0 0
Entrez Id: 27130
Gene Symbol: INVS
INVS
inversin 0.633 0.448 1.0E-17
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 0 0
Entrez Id: 27125
Gene Symbol: AFF4
AFF4
AF4/FMR2 family member 4 0.659 0.655 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 0 0
Entrez Id: 27089
Gene Symbol: UQCRQ
UQCRQ
ubiquinol-cytochrome c reductase complex III subunit VII 0.762 0.276 5.1E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 0 0
Entrez Id: 27077
Gene Symbol: B9D1
B9D1
B9 domain containing 1 0.633 0.586 2.9E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 0 0
Entrez Id: 27031
Gene Symbol: NPHP3
NPHP3
nephrocystin 3 0.604 0.414 1.2E-15
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 0 0
Entrez Id: 26277
Gene Symbol: TINF2
TINF2
TERF1 interacting nuclear factor 2 0.586 0.690 7.9E-04
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 0 0
Entrez Id: 26276
Gene Symbol: VPS33B
VPS33B
VPS33B, late endosome and lysosome associated 0.681 0.517 9.5E-17
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 0 0
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH
3-hydroxyisobutyryl-CoA hydrolase 0.735 0.276 2.9E-13
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 0 0
Entrez Id: 26146
Gene Symbol: TRAF3IP1
TRAF3IP1
TRAF3 interacting protein 1 0.707 0.379 9.2E-08
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 0 0
Entrez Id: 26128
Gene Symbol: KIF1BP
KIF1BP
KIF1 binding protein 0.663 0.483
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 0 0
Entrez Id: 27249
Gene Symbol: MMADHC
MMADHC
methylmalonic aciduria and homocystinuria, cblD type 0.707 0.345 2.2E-05
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 0 0
Entrez Id: 27315
Gene Symbol: PGAP2
PGAP2
post-GPI attachment to proteins 2 0.834 0.207 0.94
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 0 0
Entrez Id: 29968
Gene Symbol: PSAT1
PSAT1
phosphoserine aminotransferase 1 0.565 0.621 8.0E-09
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 0 0
Entrez Id: 29954
Gene Symbol: POMT2
POMT2
protein O-mannosyltransferase 2 0.558 0.552 1.4E-11
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 0 0
Entrez Id: 29926
Gene Symbol: GMPPA
GMPPA
GDP-mannose pyrophosphorylase A 0.743 0.310 3.7E-08
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 0 0
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
GDP-mannose pyrophosphorylase B 0.645 0.345 5.1E-07
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 0 0
Entrez Id: 29920
Gene Symbol: PYCR2
PYCR2
pyrroline-5-carboxylate reductase 2 0.707 0.379 1.3E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 0 0
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
ankyrin repeat domain 11 0.621 0.517 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 0 0
Entrez Id: 29089
Gene Symbol: UBE2T
UBE2T
ubiquitin conjugating enzyme E2 T 0.681 0.448 1.2E-05
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 0 0
Entrez Id: 29078
Gene Symbol: NDUFAF4
NDUFAF4
NADH:ubiquinone oxidoreductase complex assembly factor 4 0.656 0.448 0.52
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 0 0
Entrez Id: 29072
Gene Symbol: SETD2
SETD2
SET domain containing 2 0.465 0.724 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 0 0
Entrez Id: 28960
Gene Symbol: DCPS
DCPS
decapping enzyme, scavenger 0.762 0.241 1.9E-07
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 0 0