BMP4, bone morphogenetic protein 4, 652

N. diseases: 423; N. variants: 21
Disease: Microphthalmos ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		0.150 Biomarker disease BEFREE BMP4 is a growth factor known to contribute to eye development in animals, and gene variants in humans have been linked to microphthalmia/anophthalmia as well as CAKUT. 30568244 2019
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		0.150 GeneticVariation disease BEFREE The BMP4- 152AA genotype might play role in the causation of congenital cataract, whereas BMP4-SIX6 V-N haplotype might play a protective role toward the development of congenital cataract and microphthalmia. 29692399 2019
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		0.150 Biomarker disease BEFREE MCOPS6 subjects may also lack some of the major phenotypic hallmarks of the disorder, including microphthalmia, indicating variable expressivity. 31053785 2019
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		0.150 GeneticVariation disease BEFREE Although the genetic etiology for microphthalmia and/or coloboma is still elusive, rare variations in the related genes, such as c.608 G>A in SIX6 and c.751C>T in BMP4, may not be causative. 20057906 2009
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		0.150 Biomarker disease BEFREE We propose that BMP4 is a major gene for AM and/or retinal dystrophy and brain anomalies and may be a candidate gene for myopia and poly/syndactyly. 18252212 2008
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		0.150 Biomarker disease HPO