Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 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: 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: 816
Gene Symbol: CAMK2B
CAMK2B
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.100 CausalMutation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089

2017
Entrez Id: 815
Gene Symbol: CAMK2A
CAMK2A
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.100 CausalMutation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089

2017
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.100 CausalMutation CLINVAR Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. 27159400

2016
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: 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: 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: 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: 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: 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: 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