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: 4915
Gene Symbol: NTRK2
NTRK2 		neurotrophic receptor tyrosine kinase 2 0.479 0.808 1.00
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		phenotype 0.100 None 0 0
Entrez Id: 5351
Gene Symbol: PLOD1
PLOD1 		procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 0.579 0.731 1.5E-15
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		phenotype 0.100 None 0 1
Entrez Id: 5449
Gene Symbol: POU1F1
POU1F1 		POU class 1 homeobox 1 0.548 0.654 4.5E-02
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		phenotype 0.100 None 0 0
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2 		MAGE family member L2 0.560 0.654 0.98
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		phenotype 0.100 None 0 1
Entrez Id: 546
Gene Symbol: ATRX
ATRX 		ATRX chromatin remodeler 0.452 0.808 1.00
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		phenotype 0.100 None 0 0
Entrez Id: 54808
Gene Symbol: DYM
DYM 		dymeclin 0.563 0.769 3.6E-13
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		phenotype 0.100 None 0 0
Entrez Id: 54872
Gene Symbol: PIGG
PIGG 		phosphatidylinositol glycan anchor biosynthesis class G 0.792 0.231 5.4E-15
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		phenotype 0.100 None 0 1
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1 		protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 0.537 0.538 1.9E-20
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		phenotype 0.100 None 0 0
Entrez Id: 55670
Gene Symbol: PEX26
PEX26 		peroxisomal biogenesis factor 26 0.584 0.615 0.93
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		phenotype 0.100 None 0 0
Entrez Id: 55823
Gene Symbol: VPS11
VPS11 		VPS11 core subunit of CORVET and HOPS complexes 0.633 0.654 1.9E-05
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		phenotype 0.100 None 0 1
Entrez Id: 56052
Gene Symbol: ALG1
ALG1 		ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase 0.610 0.808 3.6E-19
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		phenotype 0.100 None 0 3
Entrez Id: 5626
Gene Symbol: PROP1
PROP1 		PROP paired-like homeobox 1 0.576 0.615 8.8E-02
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		phenotype 0.100 None 0 0
Entrez Id: 56992
Gene Symbol: KIF15
KIF15 		kinesin family member 15 0.617 0.654 9.5E-25
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		phenotype 0.100 None 0 0
Entrez Id: 57003
Gene Symbol: CCDC47
CCDC47 		coiled-coil domain containing 47 0.678 0.462 6.1E-08
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		phenotype 0.100 None 0 0
Entrez Id: 57148
Gene Symbol: RALGAPB
RALGAPB 		Ral GTPase activating protein non-catalytic subunit beta 0.659 0.577 1.00
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		phenotype 0.100 None 0 1
Entrez Id: 5195
Gene Symbol: PEX14
PEX14 		peroxisomal biogenesis factor 14 0.592 0.692 0.23
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		phenotype 0.100 None 0 0
Entrez Id: 5194
Gene Symbol: PEX13
PEX13 		peroxisomal biogenesis factor 13 0.597 0.654 5.9E-05
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		phenotype 0.100 None 0 0
Entrez Id: 50
Gene Symbol: ACO2
ACO2 		aconitase 2 0.619 0.654 0.21
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		phenotype 0.100 None 0 0
Entrez Id: 5015
Gene Symbol: OTX2
OTX2 		orthodenticle homeobox 2 0.514 0.808 0.92
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		phenotype 0.100 None 0 0
Entrez Id: 50628
Gene Symbol: GEMIN4
GEMIN4 		gem nuclear organelle associated protein 4 0.565 0.808 5.9E-13
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		phenotype 0.100 None 0 0
Entrez Id: 51
Gene Symbol: ACOX1
ACOX1 		acyl-CoA oxidase 1 0.610 0.731 6.2E-02
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		phenotype 0.100 None 0 0
Entrez Id: 51091
Gene Symbol: SEPSECS
SEPSECS 		Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase 0.656 0.423 1.6E-08
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		phenotype 0.100 None 0 3
Entrez Id: 51112
Gene Symbol: TRAPPC12
TRAPPC12 		trafficking protein particle complex 12 0.751 0.385 5.4E-16
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		phenotype 0.100 None 0 0
Entrez Id: 51133
Gene Symbol: KCTD3
KCTD3 		potassium channel tetramerization domain containing 3 0.931 0.115 0.10
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		phenotype 0.100 None 0 1
Entrez Id: 51199
Gene Symbol: NIN
NIN 		ninein 0.659 0.731 9.6E-09
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		phenotype 0.100 None 0 0