NME8, NME/NM23 family member 8, 51314

N. diseases: 59; N. variants: 3
Disease: Kartagener Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		0.020 GeneticVariation disease BEFREE Importantly, a nonsense mutation in TXNDC3, which contains a thioredoxin motif, has recently been identified as disease-causing in Primary Ciliary Dyskinesia, a hereditary motile cilia disease resulting in impaired mucociliary clearance. 30833143 2019
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		0.020 Biomarker disease LHGDN A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia. 17360648 2007