Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 51053
Gene Symbol: GMNN
GMNN 		0.100 CausalMutation phenotype CLINVAR De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. 26637980 2015
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		0.100 GeneticVariation phenotype CLINVAR A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease. 24121961 2014
Entrez Id: 10913
Gene Symbol: EDAR
EDAR 		0.100 Biomarker phenotype HPO
Entrez Id: 54345
Gene Symbol: SOX18
SOX18 		0.100 Biomarker phenotype HPO
Entrez Id: 3764
Gene Symbol: KCNJ8
KCNJ8 		0.100 Biomarker phenotype HPO
Entrez Id: 7021
Gene Symbol: TFAP2B
TFAP2B 		0.100 Biomarker phenotype HPO
Entrez Id: 9509
Gene Symbol: ADAMTS2
ADAMTS2 		0.100 Biomarker phenotype HPO
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1 		0.100 Biomarker phenotype HPO
Entrez Id: 9568
Gene Symbol: GABBR2
GABBR2 		0.100 Biomarker phenotype HPO
Entrez Id: 10283
Gene Symbol: CWC27
CWC27 		0.100 Biomarker phenotype HPO
Entrez Id: 7204
Gene Symbol: TRIO
TRIO 		0.100 Biomarker phenotype HPO
Entrez Id: 7189
Gene Symbol: TRAF6
TRAF6 		0.100 Biomarker phenotype HPO
Entrez Id: 89970
Gene Symbol: RSPRY1
RSPRY1 		0.100 Biomarker phenotype HPO
Entrez Id: 2334
Gene Symbol: AFF2
AFF2 		0.100 Biomarker phenotype HPO
Entrez Id: 5000
Gene Symbol: ORC4
ORC4 		0.100 Biomarker phenotype HPO
Entrez Id: 54517
Gene Symbol: PUS7
PUS7 		0.100 Biomarker phenotype HPO
Entrez Id: 51574
Gene Symbol: LARP7
LARP7 		0.100 Biomarker phenotype HPO
Entrez Id: 9949
Gene Symbol: AMMECR1
AMMECR1 		0.100 Biomarker phenotype HPO
Entrez Id: 3832
Gene Symbol: KIF11
KIF11 		0.100 Biomarker phenotype HPO
Entrez Id: 6418
Gene Symbol: SET
SET 		0.100 Biomarker phenotype HPO
Entrez Id: 23594
Gene Symbol: ORC6
ORC6 		0.100 Biomarker phenotype HPO
Entrez Id: 9320
Gene Symbol: TRIP12
TRIP12 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH 		0.100 Biomarker phenotype HPO
Entrez Id: 91869
Gene Symbol: RFT1
RFT1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1 		0.100 Biomarker phenotype HPO