Source: HPO

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: 29929
Gene Symbol: ALG6
ALG6
ALG6, alpha-1,3-glucosyltransferase 0.785 0.207 5.4E-03
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 29926
Gene Symbol: GMPPA
GMPPA
GDP-mannose pyrophosphorylase A 0.743 0.310 3.7E-08
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
GDP-mannose pyrophosphorylase B 0.645 0.345 5.1E-07
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 29920
Gene Symbol: PYCR2
PYCR2
pyrroline-5-carboxylate reductase 2 0.707 0.379 1.3E-06
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 27077
Gene Symbol: B9D1
B9D1
B9 domain containing 1 0.633 0.586 2.9E-03
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 27031
Gene Symbol: NPHP3
NPHP3
nephrocystin 3 0.604 0.414 1.2E-15
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 25839
Gene Symbol: COG4
COG4
component of oligomeric golgi complex 4 0.720 0.276 2.9E-09
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 25828
Gene Symbol: TXN2
TXN2
thioredoxin 2 0.676 0.379 2.7E-05
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 25821
Gene Symbol: MTO1
MTO1
mitochondrial tRNA translation optimization 1 0.636 0.345 6.9E-06
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 25782
Gene Symbol: RAB3GAP2
RAB3GAP2
RAB3 GTPase activating non-catalytic protein subunit 2 0.592 0.586 1.00
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 24140
Gene Symbol: FTSJ1
FTSJ1
FtsJ RNA methyltransferase homolog 1 0.727 0.345 0.99
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 23742
Gene Symbol: NPAP1
NPAP1
nuclear pore associated protein 1 0.696 0.345
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 23732
Gene Symbol: FRRS1L
FRRS1L
ferric chelate reductase 1 like 0.743 0.172 6.8E-03
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 23592
Gene Symbol: LEMD3
LEMD3
LEM domain containing 3 0.639 0.379 1.00
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 23556
Gene Symbol: PIGN
PIGN
phosphatidylinositol glycan anchor biosynthesis class N 0.614 0.621 4.3E-18
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 23545
Gene Symbol: ATP6V0A2
ATP6V0A2
ATPase H+ transporting V0 subunit a2 0.584 0.621 2.7E-11
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B
lysine acetyltransferase 6B 0.565 0.690 1.00
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 23512
Gene Symbol: SUZ12
SUZ12
SUZ12, polycomb repressive complex 2 subunit 0.559 0.552 1.00
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 23483
Gene Symbol: TGDS
TGDS
TDP-glucose 4,6-dehydratase 0.685 0.483 1.3E-08
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 25915
Gene Symbol: NDUFAF3
NDUFAF3
NADH:ubiquinone oxidoreductase complex assembly factor 3 0.656 0.448 6.2E-03
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 25939
Gene Symbol: SAMHD1
SAMHD1
SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 0.645 0.552 7.1E-13
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 26503
Gene Symbol: SLC17A5
SLC17A5
solute carrier family 17 member 5 0.547 0.759 8.4E-10
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 26277
Gene Symbol: TINF2
TINF2
TERF1 interacting nuclear factor 2 0.586 0.690 7.9E-04
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 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: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH
3-hydroxyisobutyryl-CoA hydrolase 0.735 0.276 2.9E-13
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0