Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8820
Gene Symbol: HESX1
HESX1 		0.410 Biomarker disease GENOMICS_ENGLAND Recent advances in central congenital hypothyroidism. 26416826 2015
Entrez Id: 8820
Gene Symbol: HESX1
HESX1 		0.410 GeneticVariation disease BEFREE In conclusion, a de novo heterozygous frameshift mutation in exon 2 of the HESX1 causes severe CPHD with optic nerve hypoplasia in a human. 12519827 2003
Entrez Id: 8820
Gene Symbol: HESX1
HESX1 		0.410 Biomarker disease HPO
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		0.400 GermlineCausalMutation disease ORPHANET Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations. 12721955 2003
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		0.400 Biomarker disease HPO
Entrez Id: 8573
Gene Symbol: CASK
CASK 		0.130 GeneticVariation disease BEFREE Finally, for the first time to our knowledge, we describe a hemizygous CASK missense mutation in a boy with ONH. 31425583 2019
Entrez Id: 8573
Gene Symbol: CASK
CASK 		0.130 Biomarker disease BEFREE Our data suggest that the CASK interactions mediated by the CaMK domain may play a crucial role in retinal function, and thus, in addition to ONH, individuals with mutations in the CASK gene may exhibit other retinal disorders, depending on the nature of mutation. 30549415 2019
Entrez Id: 8573
Gene Symbol: CASK
CASK 		0.130 Biomarker disease BEFREE Finally, we used this mouse model to define the onset and progression of ONH pathology, demonstrating for the first time that optic nerve defects arise at neonatally in CASK(+/-)mice. 29067402 2017
Entrez Id: 8573
Gene Symbol: CASK
CASK 		0.130 Biomarker disease HPO
Entrez Id: 220
Gene Symbol: ALDH1A3
ALDH1A3 		0.110 Biomarker disease BEFREE ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm. 23591992 2013
Entrez Id: 5015
Gene Symbol: OTX2
OTX2 		0.110 GeneticVariation disease BEFREE We describe a novel missense heterozygous OTX2 mutation that acts as a dominant negative inhibitor of target gene expression in a patient with CPHD, pituitary malformation, and optic nerve hypoplasia. 22715480 2012
Entrez Id: 220
Gene Symbol: ALDH1A3
ALDH1A3 		0.110 Biomarker disease HPO
Entrez Id: 5015
Gene Symbol: OTX2
OTX2 		0.110 Biomarker disease HPO
Entrez Id: 8621
Gene Symbol: CDK13
CDK13 		0.100 GeneticVariation disease CLINVAR Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 28807008 2017
Entrez Id: 2301
Gene Symbol: FOXE3
FOXE3 		0.100 Biomarker disease HPO
Entrez Id: 10585
Gene Symbol: POMT1
POMT1 		0.100 Biomarker disease HPO
Entrez Id: 25914
Gene Symbol: RTTN
RTTN 		0.100 Biomarker disease HPO
Entrez Id: 4208
Gene Symbol: MEF2C
MEF2C 		0.100 Biomarker disease HPO
Entrez Id: 79147
Gene Symbol: FKRP
FKRP 		0.100 Biomarker disease HPO
Entrez Id: 1063
Gene Symbol: CENPF
CENPF 		0.100 Biomarker disease HPO
Entrez Id: 4990
Gene Symbol: SIX6
SIX6 		0.100 Biomarker disease HPO
Entrez Id: 84282
Gene Symbol: RNF135
RNF135 		0.100 Biomarker disease HPO
Entrez Id: 54820
Gene Symbol: NDE1
NDE1 		0.100 Biomarker disease HPO
Entrez Id: 51360
Gene Symbol: MBTPS2
MBTPS2 		0.100 Biomarker disease HPO
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7 		0.100 CausalMutation disease CLINVAR