PANK2, pantothenate kinase 2, 80025

N. diseases: 171; N. variants: 49
Disease: Retinitis Pigmentosa ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.110 CausalMutation disease CLINVAR Impact of whole exome sequencing among Iranian patients with autosomal recessive retinitis pigmentosa. 26497376 2015
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.110 Biomarker disease BEFREE Disease caused by mutations in the gene encoding pantothenate kinase 2 (PANK2) is characterized by dystonia and pigmentary retinopathy in children or speech and neuropsychiatric defects in adults, in concert with a specific pattern on MRI of the brain. 14631201 2003
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.110 Biomarker disease HPO