Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10413
Gene Symbol: YAP1
YAP1 		0.110 GeneticVariation disease BEFREE We identified a novel 1 bp deletion in YAP1 in a boy with bilateral microphthalmia and bilateral chorioretinal coloboma. 28801591 2017
Entrez Id: 5076
Gene Symbol: PAX2
PAX2 		0.110 GeneticVariation disease BEFREE The genetic bases of most forms of uveoretinal coloboma are elusive; mutations in PAX2 are found in only a few cases of coloboma of the retina and optic nerve that occur with renal anomalies as part of the renal-coloboma syndrome (MIM#120330; #167409). 12503095 2003
Entrez Id: 5076
Gene Symbol: PAX2
PAX2 		0.110 Biomarker disease HPO
Entrez Id: 10413
Gene Symbol: YAP1
YAP1 		0.110 Biomarker disease HPO
Entrez Id: 7020
Gene Symbol: TFAP2A
TFAP2A 		0.100 CausalMutation disease CLINVAR A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A. 25590586 2015
Entrez Id: 50945
Gene Symbol: TBX22
TBX22 		0.100 Biomarker disease HPO
Entrez Id: 64840
Gene Symbol: PORCN
PORCN 		0.100 Biomarker disease HPO
Entrez Id: 6299
Gene Symbol: SALL1
SALL1 		0.100 Biomarker disease HPO
Entrez Id: 113246
Gene Symbol: C12orf57
C12orf57 		0.100 Biomarker disease HPO
Entrez Id: 60
Gene Symbol: ACTB
ACTB 		0.100 Biomarker disease HPO
Entrez Id: 54903
Gene Symbol: MKS1
MKS1 		0.100 Biomarker disease HPO
Entrez Id: 8573
Gene Symbol: CASK
CASK 		0.100 Biomarker disease HPO
Entrez Id: 9897
Gene Symbol: WASHC5
WASHC5 		0.100 Biomarker disease HPO
Entrez Id: 26005
Gene Symbol: C2CD3
C2CD3 		0.100 Biomarker disease HPO
Entrez Id: 9839
Gene Symbol: ZEB2
ZEB2 		0.100 Biomarker disease HPO
Entrez Id: 6469
Gene Symbol: SHH
SHH 		0.100 Biomarker disease HPO
Entrez Id: 79583
Gene Symbol: TMEM231
TMEM231 		0.100 Biomarker disease HPO
Entrez Id: 128637
Gene Symbol: TBC1D20
TBC1D20 		0.100 Biomarker disease HPO
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		0.100 CausalMutation disease CLINVAR
Entrez Id: 51259
Gene Symbol: TMEM216
TMEM216 		0.100 Biomarker disease HPO
Entrez Id: 22930
Gene Symbol: RAB3GAP1
RAB3GAP1 		0.100 Biomarker disease HPO
Entrez Id: 5950
Gene Symbol: RBP4
RBP4 		0.100 Biomarker disease HPO
Entrez Id: 9573
Gene Symbol: GDF3
GDF3 		0.100 Biomarker disease HPO
Entrez Id: 23322
Gene Symbol: RPGRIP1L
RPGRIP1L 		0.100 Biomarker disease HPO
Entrez Id: 153241
Gene Symbol: CEP120
CEP120 		0.100 Biomarker disease HPO