Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 57096
Gene Symbol: RPGRIP1
RPGRIP1 		0.300 Biomarker disease CTD_human Null RPGRIP1 alleles in patients with Leber congenital amaurosis. 11283794 2001
Entrez Id: 261734
Gene Symbol: NPHP4
NPHP4 		0.100 Biomarker disease HPO
Entrez Id: 2671
Gene Symbol: GFER
GFER 		0.100 Biomarker disease HPO
Entrez Id: 4915
Gene Symbol: NTRK2
NTRK2 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 55163
Gene Symbol: PNPO
PNPO 		0.100 Biomarker disease HPO
Entrez Id: 5354
Gene Symbol: PLP1
PLP1 		0.100 Biomarker disease HPO
Entrez Id: 54903
Gene Symbol: MKS1
MKS1 		0.100 CausalMutation disease CLINVAR
Entrez Id: 57165
Gene Symbol: GJC2
GJC2 		0.100 Biomarker disease HPO
Entrez Id: 1716
Gene Symbol: DGUOK
DGUOK 		0.010 GeneticVariation disease BEFREE Common clinical findings were progressive cholestatic liver failure, hypoglycemia, hypotonia and rotatory nystagmus in our DGUOK deficiency patients. 28493820 2017