Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4285
Gene Symbol: MIPEP
MIPEP 		0.100 CausalMutation phenotype CLINVAR MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death. 27799064 2016
Entrez Id: 285175
Gene Symbol: UNC80
UNC80 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 1468
Gene Symbol: SLC25A10
SLC25A10 		0.100 GeneticVariation phenotype CLINVAR SLC25A10 biallelic mutations in intractable epileptic encephalopathy with complex I deficiency. 29211846 2018
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 79868
Gene Symbol: ALG13
ALG13 		0.100 CausalMutation phenotype CLINVAR De novo mutations in epileptic encephalopathies. 23934111 2013
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 547
Gene Symbol: KIF1A
KIF1A 		0.100 CausalMutation phenotype CLINVAR De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome. 26486474 2016
Entrez Id: 56052
Gene Symbol: ALG1
ALG1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 23203
Gene Symbol: PMPCA
PMPCA 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 2782
Gene Symbol: GNB1
GNB1 		0.100 CausalMutation phenotype CLINVAR Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. 27108799 2016
Entrez Id: 3190
Gene Symbol: HNRNPK
HNRNPK 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 1291
Gene Symbol: COL6A1
COL6A1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 9289
Gene Symbol: ADGRG1
ADGRG1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 1822
Gene Symbol: ATN1
ATN1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 1291
Gene Symbol: COL6A1
COL6A1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 4041
Gene Symbol: LRP5
LRP5 		0.100 Biomarker phenotype HPO
Entrez Id: 546
Gene Symbol: ATRX
ATRX 		0.100 Biomarker phenotype HPO
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2 		0.100 Biomarker phenotype HPO
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.100 Biomarker phenotype HPO
Entrez Id: 57107
Gene Symbol: PDSS2
PDSS2 		0.100 Biomarker phenotype HPO
Entrez Id: 54658
Gene Symbol: UGT1A1
UGT1A1 		0.100 Biomarker phenotype HPO
Entrez Id: 103
Gene Symbol: ADAR
ADAR 		0.100 Biomarker phenotype HPO
Entrez Id: 4750
Gene Symbol: NEK1
NEK1 		0.100 Biomarker phenotype HPO
Entrez Id: 79751
Gene Symbol: SLC25A22
SLC25A22 		0.100 Biomarker phenotype HPO