ZNF547, zinc finger protein 547, 284306

N. diseases: 2; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0038015
Disease: Spondyloepiphyseal Dysplasia
Spondyloepiphyseal Dysplasia 		0.010 Biomarker disease BEFREE Altogether seven SEDL pseudogenes were detected in the human genome: SEDLP1, a transcribed retropseudogene (or retro-xaptonuon) on chromosome 19q13.4 with potential to encode a protein identical to that of the SEDL gene; SEDLP2, another retropseudogene (not transcribed) on chromosome 8; and five truncated pseudogenes, SEDLP3-SEDLP7, on chromosome Yq11.23. 11031107 2000
CUI: C3541456
Disease: Spondyloepiphyseal Dysplasia Tarda, X-Linked
Spondyloepiphyseal Dysplasia Tarda, X-Linked 		0.010 Biomarker disease BEFREE Altogether seven SEDL pseudogenes were detected in the human genome: SEDLP1, a transcribed retropseudogene (or retro-xaptonuon) on chromosome 19q13.4 with potential to encode a protein identical to that of the SEDL gene; SEDLP2, another retropseudogene (not transcribed) on chromosome 8; and five truncated pseudogenes, SEDLP3-SEDLP7, on chromosome Yq11.23. 11031107 2000