Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 118429
Gene Symbol: ANTXR2
ANTXR2
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.100 CausalMutation CLINVAR

Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1
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: 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: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.100 GeneticVariation 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: 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: 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: 80152
Gene Symbol: CENPT
CENPT
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.100 GeneticVariation 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: 1291
Gene Symbol: COL6A1
COL6A1
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.100 GeneticVariation CLINVAR

Entrez Id: 1291
Gene Symbol: COL6A1
COL6A1
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.100 CausalMutation CLINVAR

Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.100 GeneticVariation CLINVAR

Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.100 CausalMutation CLINVAR

Entrez Id: 23474
Gene Symbol: ETHE1
ETHE1
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.100 CausalMutation CLINVAR

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: 64207
Gene Symbol: IRF2BPL
IRF2BPL
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.100 GeneticVariation CLINVAR

Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.100 CausalMutation 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: 4204
Gene Symbol: MECP2
MECP2
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.100 CausalMutation CLINVAR

Entrez Id: 51102
Gene Symbol: MECR
MECR
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.100 CausalMutation CLINVAR

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

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

Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.100 GeneticVariation CLINVAR