Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2782
Gene Symbol: GNB1
GNB1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.420 GeneticVariation CLINVAR

Entrez Id: 23334
Gene Symbol: SZT2
SZT2
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.420 GeneticVariation CLINVAR

Entrez Id: 55904
Gene Symbol: KMT2E
KMT2E
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.410 GeneticVariation CLINVAR

Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.410 CausalMutation CLINVAR

Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.410 CausalMutation CLINVAR

Entrez Id: 84231
Gene Symbol: TRAF7
TRAF7
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.410 CausalMutation CLINVAR

Entrez Id: 80036
Gene Symbol: TRPM3
TRPM3
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.400 CausalMutation CLINVAR

Entrez Id: 9772
Gene Symbol: TMEM94
TMEM94
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.400 CausalMutation CLINVAR

Entrez Id: 81603
Gene Symbol: TRIM8
TRIM8
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.400 GeneticVariation CLINVAR

Entrez Id: 1729
Gene Symbol: DIAPH1
DIAPH1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.400 GeneticVariation CLINVAR

Entrez Id: 3735
Gene Symbol: KARS1
KARS1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.400 CausalMutation CLINVAR

Entrez Id: 23162
Gene Symbol: MAPK8IP3
MAPK8IP3
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.400 GeneticVariation CLINVAR

Entrez Id: 23111
Gene Symbol: SPART
SPART
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.400 GeneticVariation CLINVAR

Entrez Id: 116461
Gene Symbol: TSEN15
TSEN15
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.400 GeneticVariation CLINVAR

Entrez Id: 23221
Gene Symbol: RHOBTB2
RHOBTB2
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.400 GeneticVariation CLINVAR

Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.200 CausalMutation CLINVAR

Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.200 CausalMutation CLINVAR

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.180 CausalMutation CLINVAR

Entrez Id: 11152
Gene Symbol: WDR45
WDR45
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.160 CausalMutation CLINVAR

Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.150 CausalMutation CLINVAR

Entrez Id: 7337
Gene Symbol: UBE3A
UBE3A
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.140 CausalMutation CLINVAR

Entrez Id: 284111
Gene Symbol: SLC13A5
SLC13A5
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.140 GeneticVariation CLINVAR

Entrez Id: 1801
Gene Symbol: DPH1
DPH1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.140 GeneticVariation CLINVAR

Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.140 GeneticVariation CLINVAR

Entrez Id: 7994
Gene Symbol: KAT6A
KAT6A
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.130 CausalMutation CLINVAR