Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.500 GeneticVariation CLINVAR

Entrez Id: 23221
Gene Symbol: RHOBTB2
RHOBTB2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.110 GeneticVariation CLINVAR

Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.110 SusceptibilityMutation CLINVAR

Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.100 CausalMutation CLINVAR

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.100 GeneticVariation CLINVAR

Entrez Id: 160140
Gene Symbol: C11orf65
C11orf65
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.100 GeneticVariation CLINVAR

Entrez Id: 5538
Gene Symbol: PPT1
PPT1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.100 CausalMutation CLINVAR

Entrez Id: 2033
Gene Symbol: EP300
EP300
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.100 GeneticVariation CLINVAR Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome. 13983033

1963

Entrez Id: 2312
Gene Symbol: FLG
FLG
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.100 CausalMutation CLINVAR Clinical features of autosomal dominant and sex-linked ichthyosis in an English population. 20790920

1966

Entrez Id: 339400
Gene Symbol: FLG-AS1
FLG-AS1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.100 CausalMutation CLINVAR Clinical features of autosomal dominant and sex-linked ichthyosis in an English population. 20790920

1966

Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.100 CausalMutation CLINVAR Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease. 4386970

1968

Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.100 CausalMutation CLINVAR Multiple lentigenes syndrome. 5771505

1969

Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.100 CausalMutation CLINVAR [Criteria in the evaluation of blood picture for the diagnosis of bovine leukosis]. 5167861

1971

Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.100 GeneticVariation CLINVAR [Criteria in the evaluation of blood picture for the diagnosis of bovine leukosis]. 5167861

1971

Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.100 GeneticVariation CLINVAR Anesthetic-induced malignant hyperpyrexia in children. 4149045

1973

Entrez Id: 1213
Gene Symbol: CLTC
CLTC
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.100 GeneticVariation CLINVAR Clathrin: a unique protein associated with intracellular transfer of membrane by coated vesicles. 1063406

1976

Entrez Id: 253260
Gene Symbol: RICTOR
RICTOR
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.100 GeneticVariation CLINVAR Nutrition education in the medical school curriculum: a proposal for action: a curriculum design. 2006

1976

Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.110 GeneticVariation CLINVAR Muscarinic suppression of a novel voltage-sensitive K+ current in a vertebrate neurone. 6965523

1980

Entrez Id: 284217
Gene Symbol: LAMA1
LAMA1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.100 CausalMutation CLINVAR Shapes, domain organizations and flexibility of laminin and fibronectin, two multifunctional proteins of the extracellular matrix. 6795355

1981

Entrez Id: 2539
Gene Symbol: G6PD
G6PD
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.100 CausalMutation CLINVAR Sickle cell trait and glucose-6-phosphate dehydrogenase deficiency. Effects on health and military performance in black Navy enlistees. 7283560

1981

Entrez Id: 4125
Gene Symbol: MAN2B1
MAN2B1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.100 CausalMutation CLINVAR Mannosidosis: two brothers with different degrees of disease severity. 7307317

1981

Entrez Id: 11284
Gene Symbol: PNKP
PNKP
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.100 CausalMutation CLINVAR Interface between psychoanalysis and family therapy. 7165045

1982

Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.130 GeneticVariation CLINVAR Excitatory amino acids in synaptic transmission in the Schaffer collateral-commissural pathway of the rat hippocampus. 6306230

1983

Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.100 CausalMutation CLINVAR alpha 1-antitrypsin deficiency detection by direct analysis of the mutation in the gene. 6306478

1983

Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.100 CausalMutation CLINVAR The Coffin-Siris syndrome: report of a family and further delineation. 6499251

1984