Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1103
Gene Symbol: CHAT
CHAT
0.100 CausalMutation phenotype CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868 2015
Entrez Id: 158293
Gene Symbol: FAM120AOS
FAM120AOS
0.100 GeneticVariation phenotype CLINVAR Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. 25558065 2015
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
0.100 GeneticVariation phenotype CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868 2015
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3
0.100 GeneticVariation phenotype CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868 2015
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
0.100 Biomarker phenotype HPO
Entrez Id: 1650
Gene Symbol: DDOST
DDOST
0.100 Biomarker phenotype HPO
Entrez Id: 84693
Gene Symbol: MCEE
MCEE
0.100 Biomarker phenotype HPO
Entrez Id: 10144
Gene Symbol: FAM13A
FAM13A
0.100 Biomarker phenotype HPO
Entrez Id: 27125
Gene Symbol: AFF4
AFF4
0.100 Biomarker phenotype HPO
Entrez Id: 1305
Gene Symbol: COL13A1
COL13A1
0.100 Biomarker phenotype HPO
Entrez Id: 673
Gene Symbol: BRAF
BRAF
0.100 Biomarker phenotype HPO
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
0.100 Biomarker phenotype HPO
Entrez Id: 546
Gene Symbol: ATRX
ATRX
0.100 Biomarker phenotype HPO
Entrez Id: 6299
Gene Symbol: SALL1
SALL1
0.100 Biomarker phenotype HPO
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
0.100 Biomarker phenotype HPO
Entrez Id: 10479
Gene Symbol: SLC9A6
SLC9A6
0.100 Biomarker phenotype HPO
Entrez Id: 51750
Gene Symbol: RTEL1
RTEL1
0.100 Biomarker phenotype HPO
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
0.100 Biomarker phenotype HPO
Entrez Id: 55975
Gene Symbol: KLHL7
KLHL7
0.100 Biomarker phenotype HPO
Entrez Id: 283489
Gene Symbol: CHAMP1
CHAMP1
0.100 Biomarker phenotype HPO
Entrez Id: 6531
Gene Symbol: SLC6A3
SLC6A3
0.100 Biomarker phenotype HPO
Entrez Id: 8514
Gene Symbol: KCNAB2
KCNAB2
0.100 Biomarker phenotype HPO
Entrez Id: 389827
Gene Symbol: MYMK
MYMK
0.100 Biomarker phenotype HPO
Entrez Id: 9568
Gene Symbol: GABBR2
GABBR2
0.100 Biomarker phenotype HPO
Entrez Id: 9152
Gene Symbol: SLC6A5
SLC6A5
0.100 Biomarker phenotype HPO