Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1822
Gene Symbol: ATN1
ATN1 		0.300 Biomarker group GENOMICS_ENGLAND De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome. 30827498 2019
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		0.100 GeneticVariation group CLINVAR
Entrez Id: 9401
Gene Symbol: RECQL4
RECQL4 		0.100 Biomarker group HPO
Entrez Id: 54968
Gene Symbol: TMEM70
TMEM70 		0.100 Biomarker group HPO
Entrez Id: 6663
Gene Symbol: SOX10
SOX10 		0.100 Biomarker group HPO
Entrez Id: 79140
Gene Symbol: CCDC28B
CCDC28B 		0.100 Biomarker group HPO
Entrez Id: 2033
Gene Symbol: EP300
EP300 		0.100 Biomarker group HPO
Entrez Id: 1723
Gene Symbol: DHODH
DHODH 		0.100 Biomarker group HPO
Entrez Id: 7469
Gene Symbol: NELFA
NELFA 		0.100 Biomarker group HPO
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3 		0.100 Biomarker group HPO
Entrez Id: 23384
Gene Symbol: SPECC1L
SPECC1L 		0.100 Biomarker group HPO
Entrez Id: 6888
Gene Symbol: TALDO1
TALDO1 		0.100 Biomarker group HPO
Entrez Id: 324
Gene Symbol: APC
APC 		0.100 Biomarker group HPO
Entrez Id: 3954
Gene Symbol: LETM1
LETM1 		0.100 Biomarker group HPO
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		0.100 Biomarker group HPO
Entrez Id: 4286
Gene Symbol: MITF
MITF 		0.100 Biomarker group HPO
Entrez Id: 7468
Gene Symbol: NSD2
NSD2 		0.100 Biomarker group HPO
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1 		0.100 Biomarker group HPO
Entrez Id: 158326
Gene Symbol: FREM1
FREM1 		0.100 Biomarker group HPO
Entrez Id: 582
Gene Symbol: BBS1
BBS1 		0.100 Biomarker group HPO
Entrez Id: 55975
Gene Symbol: KLHL7
KLHL7 		0.100 Biomarker group HPO
Entrez Id: 6591
Gene Symbol: SNAI2
SNAI2 		0.100 Biomarker group HPO
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB 		0.100 Biomarker group HPO
Entrez Id: 4254
Gene Symbol: KITLG
KITLG 		0.100 Biomarker group HPO
Entrez Id: 1910
Gene Symbol: EDNRB
EDNRB 		0.100 Biomarker group HPO