Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.100 GeneticVariation disease CLINVAR
CUI: C0020490
Disease: Hyperopia
Hyperopia 		0.100 GeneticVariation disease CLINVAR
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0038379
Disease: Strabismus
Strabismus 		0.100 GeneticVariation disease CLINVAR
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 GeneticVariation disease CLINVAR
CUI: C3887873
Disease: Hearing Loss
Hearing Loss 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 AlteredExpression group BEFREE Silencing of DMBX1 inhibited proliferation of LUAD and induced G1/S cell cycle arrest, whereas ectopic expression of DMBX1 enhanced tumor growth of LUAD and promoted G1/S cell cycle exit. 30928384 2019
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.010 Biomarker disease BEFREE Our study reveals that DMBX1 plays an oncogenic role in LUAD by repressing OTX2-mediated transcription of p21 and the results may provide new therapeutic targets for LUAD patients. 30928384 2019
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.010 Biomarker disease BEFREE CRX/OTX3: a useful marker in the differential diagnosis of tumors of the pineal region and indicator of photoreceptor differentiation in medulloblastomas and atypical teratoid rhabdoid tumors. 23235340 2013
CUI: C0206743
Disease: Rhabdoid Tumor
Rhabdoid Tumor 		0.010 Biomarker disease BEFREE CRX/OTX3: a useful marker in the differential diagnosis of tumors of the pineal region and indicator of photoreceptor differentiation in medulloblastomas and atypical teratoid rhabdoid tumors. 23235340 2013
CUI: C0242852
Disease: Proliferative vitreoretinopathy
Proliferative vitreoretinopathy 		0.010 Biomarker disease BEFREE We individuated two possible pathways (VEGF-A, Otx2, p53, p63 and Otx1 and Otx3) involved in PVR progression that could influence in different manners the course of the pathology. 24227910 2013
CUI: C0086543
Disease: Cataract
Cataract 		0.010 Biomarker disease LHGDN Therefore, no indications were found for an association between the MBX gene and microphthalmia with congenital cataract in humans. 17990594 2008