Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		0.300 GeneticVariation group BEFREE Influence of PAX6 gene dosage on development: overexpression causes severe eye abnormalities. 8689689 1996
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		0.300 Biomarker group BEFREE PAX6 and congenital eye malformations. 14561779 2003
Entrez Id: 7020
Gene Symbol: TFAP2A
TFAP2A 		0.300 Biomarker group CTD_human Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators. 19685247 2009
Entrez Id: 182
Gene Symbol: JAG1
JAG1 		0.300 Biomarker group CTD_human Familial deafness, congenital heart defects, and posterior embryotoxon caused by cysteine substitution in the first epidermal-growth-factor-like domain of jagged 1. 12022040 2002
Entrez Id: 285590
Gene Symbol: SH3PXD2B
SH3PXD2B 		0.300 Biomarker group CTD_human The podosomal-adaptor protein SH3PXD2B is essential for normal postnatal development. 19669234 2009
Entrez Id: 55764
Gene Symbol: IFT122
IFT122 		0.300 Biomarker group CTD_human Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene. 20493458 2010
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		0.300 GeneticVariation group BEFREE Classical aniridia, a panocular eye malformation including foveal hypoplasia, is the archetypal phenotype associated with heterozygous PAX6 loss-of-function mutations. 30242502 2019
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		0.300 Biomarker group RGD Pax-6 is involved in the specification of hindbrain motor neuron subtype. 9247338 1997
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		0.300 GeneticVariation group BEFREE In humans, heterozygous PAX6 mutations cause aniridia and various other congenital eye abnormalities. 16493447 2006
Entrez Id: 7042
Gene Symbol: TGFB2
TGFB2 		0.300 Biomarker group CTD_human TGFbeta2 knockout mice have multiple developmental defects that are non-overlapping with other TGFbeta knockout phenotypes. 9217007 1997
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		0.300 GeneticVariation group BEFREE We carried out genotyping of individuals within a single family, with and without the characteristic eye abnormalities of PAX6 mutation, and only those individuals with the mutation showed significant abnormalities on tests of frontal lobe function. 10412187 1999
Entrez Id: 158326
Gene Symbol: FREM1
FREM1 		0.300 Biomarker group CTD_human Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice. 23221805 2013
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		0.300 GeneticVariation group BEFREE PAX6 mutations cause aniridia as well as other various congenital eye abnormalities. 17679951 2007
Entrez Id: 6469
Gene Symbol: SHH
SHH 		0.300 Biomarker group CTD_human Epigenetic targeting of Hedgehog pathway transcriptional output through BET bromodomain inhibition. 24973920 2014
Entrez Id: 30813
Gene Symbol: VSX1
VSX1 		0.300 Biomarker group CTD_human VSX1 (RINX) mutation with craniofacial anomalies, empty sella, corneal endothelial changes, and abnormal retinal and auditory bipolar cells. 15051220 2004
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1 		0.300 Biomarker group CTD_human Ophthalmological features associated with COL4A1 mutations. 20385946 2010
Entrez Id: 182
Gene Symbol: JAG1
JAG1 		0.300 Biomarker group CTD_human Mutations in the human Jagged1 gene are responsible for Alagille syndrome. 9207787 1997
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		0.300 GeneticVariation group BEFREE Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations. 9931324 1999
Entrez Id: 3340
Gene Symbol: NDST1
NDST1 		0.300 Biomarker group CTD_human Cerebral hypoplasia and craniofacial defects in mice lacking heparan sulfate Ndst1 gene function. 16020517 2005
Entrez Id: 729920
Gene Symbol: CRPPA
CRPPA 		0.300 Biomarker group CTD_human Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan. 22522421 2012
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		0.300 GeneticVariation group BEFREE Mutations in PAX6 are responsible for eye abnormalities including aniridia, and it is also known that some PAX6 mutations result in autism with incomplete penetrance. 19607881 2009
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		0.300 AlteredExpression group BEFREE A paired homeodomain transcription factor, PAX6, is a well-known regulator of eye development, and its heterozygous mutations in humans cause congenital eye anomalies such as aniridia. 11756345 2002
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		0.300 GeneticVariation group BEFREE PAX6 mutations are not well described in the Chinese population so this study is aimed at exploring the role of PAX6 mutations in Taiwanese patients with congenital eye anomalies. 19898691 2009
Entrez Id: 658
Gene Symbol: BMPR1B
BMPR1B 		0.300 Biomarker group CTD_human Altered BMP signaling disrupts chick diencephalic development. 15804571 2005
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A 		0.300 Biomarker group CTD_human Altered BMP signaling disrupts chick diencephalic development. 15804571 2005