Source: INFERRED

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: 25977
Gene Symbol: NECAP1
NECAP1
NECAP endocytosis associated 1 0.886 0.034 9.9E-02
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 790955
Gene Symbol: UQCC3
UQCC3
ubiquinol-cytochrome c reductase complex assembly factor 3 0.834 0.034
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 23334
Gene Symbol: SZT2
SZT2
SZT2, KICSTOR complex subunit 0.799 0.069 1.1E-15
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 221927
Gene Symbol: BRAT1
BRAT1
BRCA1 associated ATM activator 1 0.785 0.069 1.9E-11
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 64801
Gene Symbol: ARV1
ARV1
ARV1 homolog, fatty acid homeostasis modulator 0.799 0.138 4.0E-06
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 84705
Gene Symbol: GTPBP3
GTPBP3
GTP binding protein 3, mitochondrial 0.785 0.138 1.3E-08
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 255928
Gene Symbol: SYT14
SYT14
synaptotagmin 14 0.727 0.138 0.96
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 2464
Gene Symbol: FRA16E
FRA16E
fragile site, distamycin A type, rare, fra(16)(p12.1) 0.857 0.172
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 2683
Gene Symbol: B4GALT1
B4GALT1
beta-1,4-galactosyltransferase 1 0.773 0.172 4.2E-02
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 9758
Gene Symbol: FRMPD4
FRMPD4
FERM and PDZ domain containing 4 0.834 0.172 1.00
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 22796
Gene Symbol: COG2
COG2
component of oligomeric golgi complex 2 0.785 0.172 7.0E-06
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: 54112
Gene Symbol: GPR88
GPR88
G protein-coupled receptor 88 0.834 0.172 0.77
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 54872
Gene Symbol: PIGG
PIGG
phosphatidylinositol glycan anchor biosynthesis class G 0.773 0.172 6.4E-15
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 55084
Gene Symbol: SOBP
SOBP
sine oculis binding protein homolog 0.834 0.172 1.00
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 79143
Gene Symbol: MBOAT7
MBOAT7
membrane bound O-acyltransferase domain containing 7 0.752 0.172 0.11
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 124512
Gene Symbol: METTL23
METTL23
methyltransferase like 23 0.785 0.172 7.7E-08
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 197322
Gene Symbol: ACSF3
ACSF3
acyl-CoA synthetase family member 3 0.815 0.172 1.3E-26
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
major facilitator superfamily domain containing 8 0.672 0.172 2.3E-12
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 339453
Gene Symbol: TMEM240
TMEM240
transmembrane protein 240 0.735 0.172 0.23
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 388962
Gene Symbol: BOLA3
BOLA3
bolA family member 3 0.773 0.172 0.15
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 440138
Gene Symbol: ALG11
ALG11
ALG11, alpha-1,2-mannosyltransferase 0.815 0.172 9.3E-09
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 549
Gene Symbol: AUH
AUH
AU RNA binding methylglutaconyl-CoA hydratase 0.727 0.207 7.8E-06
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 1193
Gene Symbol: CLIC2
CLIC2
chloride intracellular channel 2 0.735 0.207 5.6E-02
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 4285
Gene Symbol: MIPEP
MIPEP
mitochondrial intermediate peptidase 0.762 0.207 5.2E-15
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0