Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5396
Gene Symbol: PRRX1
PRRX1
0.500 Biomarker disease CTD_human Recurrent agnathia-otocephaly caused by DNA replication slippage in PRRX1. 23444262 2013
Entrez Id: 5396
Gene Symbol: PRRX1
PRRX1
0.500 GermlineCausalMutation disease ORPHANET PRRX1 is mutated in a fetus with agnathia-otocephaly. 21294718 2011
Entrez Id: 5015
Gene Symbol: OTX2
OTX2
0.310 GeneticVariation disease BEFREE OTX2 mutations contribute to the otocephaly-dysgnathia complex. 22577225 2012
Entrez Id: 5015
Gene Symbol: OTX2
OTX2
0.310 GermlineModifyingMutation disease ORPHANET OTX2 mutations contribute to the otocephaly-dysgnathia complex. 22577225 2012
Entrez Id: 2773
Gene Symbol: GNAI3
GNAI3
0.300 Biomarker disease GENOMICS_ENGLAND The highly conserved Chinese hamster GNAI3 gene maps less than 60 kb from the AMPD2 gene and lacks the intronic U6 snRNA present in its human counterpart. 7698751 1994