Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.150 CausalMutation CLINVAR STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy. 26865513

2016
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.150 CausalMutation CLINVAR

Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.140 CausalMutation CLINVAR DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. 25944381

2015
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.140 GeneticVariation CLINVAR DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. 25944381

2015
Entrez Id: 5048
Gene Symbol: PAFAH1B1
PAFAH1B1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.140 CausalMutation CLINVAR Mosaic mutations of the LIS1 gene cause subcortical band heterotopia. 14581661

2003
Entrez Id: 5048
Gene Symbol: PAFAH1B1
PAFAH1B1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.140 CausalMutation CLINVAR LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ. 11502906

2001
Entrez Id: 5048
Gene Symbol: PAFAH1B1
PAFAH1B1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.140 CausalMutation CLINVAR Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1. 10441340

1999
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: 3745
Gene Symbol: KCNB1
KCNB1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.130 GeneticVariation CLINVAR The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results. 28252636

2017
Entrez Id: 3745
Gene Symbol: KCNB1
KCNB1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.130 GeneticVariation CLINVAR Clinical features and outcome of 6 new patients carrying de novo KCNB1 gene mutations. 29264397

2017
Entrez Id: 7994
Gene Symbol: KAT6A
KAT6A
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.130 CausalMutation CLINVAR

Entrez Id: 3745
Gene Symbol: KCNB1
KCNB1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.130 CausalMutation CLINVAR

Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.130 GeneticVariation CLINVAR

Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.130 GeneticVariation CLINVAR

Entrez Id: 26053
Gene Symbol: AUTS2
AUTS2
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.130 GeneticVariation CLINVAR

Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.130 GeneticVariation CLINVAR

Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.130 GeneticVariation CLINVAR

Entrez Id: 22827
Gene Symbol: PUF60
PUF60
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.130 GeneticVariation CLINVAR