Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1436
Gene Symbol: CSF1R
CSF1R
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR Hereditary diffuse leucoencephalopathy with spheroids. 6595937

1984
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR Familial porencephalic white matter disease in two generations. 6428250

1984
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation CLINVAR Familial porencephalic white matter disease in two generations. 6428250

1984
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation CLINVAR Different mutations in Ashkenazi Jewish and non-Jewish French Canadians with Tay-Sachs disease. 3754980

1986
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.160 CausalMutation CLINVAR Chromosomal localization of human Na+, K+-ATPase alpha- and beta-subunit genes. 2842249

1988
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.160 GeneticVariation CLINVAR Chromosomal localization of human Na+, K+-ATPase alpha- and beta-subunit genes. 2842249

1988
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR Magnetic resonance imaging in familial paroxysmal ataxia. 3358708

1988
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients. 3067577

1988
Entrez Id: 6651
Gene Symbol: SON
SON
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR [Decoding of the primary structure of the son3 region in human genome: identification of a new protein with unusual structure and homology with DNA-binding proteins]. 3054499

1988
Entrez Id: 6651
Gene Symbol: SON
SON
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation CLINVAR [Decoding of the primary structure of the son3 region in human genome: identification of a new protein with unusual structure and homology with DNA-binding proteins]. 3054499

1988
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.130 GeneticVariation CLINVAR Luteinizing hormone and follicle stimulating hormone secretion patterns in boys throughout puberty measured using highly sensitive immunoradiometric assays. 2516786

1989
Entrez Id: 1654
Gene Symbol: DDX3X
DDX3X
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 CausalMutation CLINVAR Birth of the D-E-A-D box. 2563148

1989
Entrez Id: 1654
Gene Symbol: DDX3X
DDX3X
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 GeneticVariation CLINVAR Birth of the D-E-A-D box. 2563148

1989
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR Predictive motifs derived from cytosine methyltransferases. 2717398

1989
Entrez Id: 23314
Gene Symbol: SATB2
SATB2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation CLINVAR Interstitial deletion of the long arm of chromosome 2 with normal levels of isocitrate dehydrogenase. 2918541

1989
Entrez Id: 2539
Gene Symbol: G6PD
G6PD
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR Glucose-6-phosphate dehydrogenase deficiency. WHO Working Group. 2633878

1989
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR Hypertrichosis cubiti (hairy elbows) and short stature: a recognisable association. 2738900

1989
Entrez Id: 284217
Gene Symbol: LAMA1
LAMA1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR Human laminin A chain (LAMA) gene: chromosomal mapping to locus 18p11.3. 2591971

1989
Entrez Id: 104472715
Gene Symbol: SNHG14
SNHG14
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR Maternal origin of 15q11-13 deletions in Angelman syndrome suggests a role for genomic imprinting. 2309781

1990
Entrez Id: 7337
Gene Symbol: UBE3A
UBE3A
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation CLINVAR Maternal origin of 15q11-13 deletions in Angelman syndrome suggests a role for genomic imprinting. 2309781

1990
Entrez Id: 7337
Gene Symbol: UBE3A
UBE3A
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR Maternal origin of 15q11-13 deletions in Angelman syndrome suggests a role for genomic imprinting. 2309781

1990
Entrez Id: 104472715
Gene Symbol: SNHG14
SNHG14
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation CLINVAR Maternal origin of 15q11-13 deletions in Angelman syndrome suggests a role for genomic imprinting. 2309781

1990
Entrez Id: 8139
Gene Symbol: GAN
GAN
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR Giant axonal neuropathy with inherited multisystem degeneration in a Tunisian kindred. 2153943

1990
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.200 CausalMutation CLINVAR Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay. 1714544

1991
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.130 GeneticVariation CLINVAR Molecular cloning and characterization of the rat NMDA receptor. 1834949

1991