Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.100 CausalMutation CLINVAR

Entrez Id: 25839
Gene Symbol: COG4
COG4
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.100 CausalMutation CLINVAR

Entrez Id: 815
Gene Symbol: CAMK2A
CAMK2A
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.100 GeneticVariation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089

2017
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.100 CausalMutation CLINVAR New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis. 15596759

2004
Entrez Id: 80208
Gene Symbol: SPG11
SPG11
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.100 CausalMutation CLINVAR SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration. 19194956

2009
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.100 GeneticVariation CLINVAR

Entrez Id: 57215
Gene Symbol: THAP11
THAP11
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.100 GeneticVariation CLINVAR

Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.100 CausalMutation CLINVAR [The construction and preliminary investigation of the cell model of a novel mutation R675Q in the SCN4A gene identified in a Chinese family with normokalemic periodic paralysis]. 19065518

2008
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.100 CausalMutation CLINVAR

Entrez Id: 80152
Gene Symbol: CENPT
CENPT
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.100 GeneticVariation CLINVAR

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.100 CausalMutation CLINVAR

Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.100 CausalMutation CLINVAR

Entrez Id: 4593
Gene Symbol: MUSK
MUSK
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.100 GeneticVariation CLINVAR

Entrez Id: 4983
Gene Symbol: OPHN1
OPHN1
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.100 GeneticVariation CLINVAR

Entrez Id: 8216
Gene Symbol: LZTR1
LZTR1
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.100 CausalMutation CLINVAR Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. 29469822

2018
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.100 CausalMutation CLINVAR

Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.100 CausalMutation CLINVAR

Entrez Id: 7173
Gene Symbol: TPO
TPO
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.100 GeneticVariation CLINVAR

Entrez Id: 11152
Gene Symbol: WDR45
WDR45
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.100 CausalMutation CLINVAR

Entrez Id: 523
Gene Symbol: ATP6V1A
ATP6V1A
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.100 GeneticVariation CLINVAR

Entrez Id: 7874
Gene Symbol: USP7
USP7
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.100 GeneticVariation CLINVAR

Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.100 GeneticVariation CLINVAR

Entrez Id: 9024
Gene Symbol: BRSK2
BRSK2
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.100 CausalMutation CLINVAR Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder. 30879638

2019
Entrez Id: 2892
Gene Symbol: GRIA3
GRIA3
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.100 GeneticVariation CLINVAR A point mutation in the ion conduction pore of AMPA receptor GRIA3 causes dramatically perturbed sleep patterns as well as intellectual disability. 29016847

2017
Entrez Id: 10577
Gene Symbol: NPC2
NPC2
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.100 CausalMutation CLINVAR