Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5396
Gene Symbol: PRRX1
PRRX1
0.310 Biomarker disease CTD_human We studied the PRRX1 gene in a non-consanguineous Indonesian female infant who was diagnosed prenatally with severe retrognathia (bilateral Pruzansky type III). 23444262 2013
Entrez Id: 5396
Gene Symbol: PRRX1
PRRX1
0.310 GeneticVariation disease BEFREE We studied the PRRX1 gene in a non-consanguineous Indonesian female infant who was diagnosed prenatally with severe retrognathia (bilateral Pruzansky type III). 23444262 2013
Entrez Id: 259232
Gene Symbol: NALCN
NALCN
0.100 GeneticVariation disease CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784 2016
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH
0.100 Biomarker disease HPO
Entrez Id: 10667
Gene Symbol: FARS2
FARS2
0.100 Biomarker disease HPO
Entrez Id: 6949
Gene Symbol: TCOF1
TCOF1
0.100 Biomarker disease HPO
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2
0.100 Biomarker disease HPO
Entrez Id: 54487
Gene Symbol: DGCR8
DGCR8
0.100 Biomarker disease HPO
Entrez Id: 23512
Gene Symbol: SUZ12
SUZ12
0.100 Biomarker disease HPO
Entrez Id: 51319
Gene Symbol: RSRC1
RSRC1
0.100 Biomarker disease HPO
Entrez Id: 81620
Gene Symbol: CDT1
CDT1
0.100 Biomarker disease HPO
Entrez Id: 2033
Gene Symbol: EP300
EP300
0.100 Biomarker disease HPO
Entrez Id: 136647
Gene Symbol: MPLKIP
MPLKIP
0.100 Biomarker disease HPO
Entrez Id: 2301
Gene Symbol: FOXE3
FOXE3
0.100 Biomarker disease HPO
Entrez Id: 79796
Gene Symbol: ALG9
ALG9
0.100 Biomarker disease HPO
Entrez Id: 3481
Gene Symbol: IGF2
IGF2
0.100 Biomarker disease HPO
Entrez Id: 5116
Gene Symbol: PCNT
PCNT
0.100 Biomarker disease HPO
Entrez Id: 51633
Gene Symbol: OTUD6B
OTUD6B
0.100 Biomarker disease HPO
Entrez Id: 9581
Gene Symbol: PREPL
PREPL
0.100 Biomarker disease HPO
Entrez Id: 4629
Gene Symbol: MYH11
MYH11
0.100 Biomarker disease HPO
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
0.100 GeneticVariation disease CLINVAR
Entrez Id: 51082
Gene Symbol: POLR1D
POLR1D
0.100 Biomarker disease HPO
Entrez Id: 4784
Gene Symbol: NFIX
NFIX
0.100 Biomarker disease HPO
Entrez Id: 2187
Gene Symbol: FANCB
FANCB
0.100 Biomarker disease HPO
Entrez Id: 25778
Gene Symbol: DSTYK
DSTYK
0.100 Biomarker disease HPO