Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5424
Gene Symbol: POLD1
POLD1 		0.300 Biomarker group CTD_human An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy. 23770608 2013
Entrez Id: 5125
Gene Symbol: PCSK5
PCSK5 		0.300 Biomarker group CTD_human VACTERL/caudal regression/Currarino syndrome-like malformations in mice with mutation in the proprotein convertase Pcsk5. 18519639 2008
Entrez Id: 6608
Gene Symbol: SMO
SMO 		0.300 Biomarker group CTD_human Impairment of lower jaw growth in developing zebrafish exposed to 2,3,7,8-tetrachlorodibenzo-p-dioxin and reduced hedgehog expression. 16580747 2006
Entrez Id: 57045
Gene Symbol: TWSG1
TWSG1 		0.300 Biomarker group CTD_human The mammalian twisted gastrulation gene functions in foregut and craniofacial development. 15013800 2004
Entrez Id: 5015
Gene Symbol: OTX2
OTX2 		0.300 Biomarker group CTD_human Genetic modifiers of otocephalic phenotypes in Otx2 heterozygous mutant mice. 12183386 2002
Entrez Id: 5308
Gene Symbol: PITX2
PITX2 		0.010 GeneticVariation group BEFREE The morphological phenotype of pitx2(ex4/5) morphants included small head and eyes, jaw abnormalities and pericardial edema; lethality was observed at ∼6-8-dpf. 22303467 2012
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		0.010 Biomarker group BEFREE Knockdown of zebrafish faf1 leads to pharyngeal cartilage defects and jaw abnormality as a result of a failure of CNC to differentiate into and express cartilage-specific markers, such as sox9a and col2a1. 21295280 2011
Entrez Id: 11124
Gene Symbol: FAF1
FAF1 		0.010 Biomarker group BEFREE Knockdown of zebrafish faf1 leads to pharyngeal cartilage defects and jaw abnormality as a result of a failure of CNC to differentiate into and express cartilage-specific markers, such as sox9a and col2a1. 21295280 2011
Entrez Id: 3064
Gene Symbol: HTT
HTT 		0.010 Biomarker group BEFREE Older huntingtin knockdown fish developed lower jaw abnormalities with most branchial arches missing. 19193881 2009