PNKP, polynucleotide kinase 3'-phosphatase, 11284

N. diseases: 163; N. variants: 17
Disease: Seckel syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome 		0.010 GeneticVariation disease BEFREE Microcephalic primordial dwarfism in an Emirati patient with PNKP mutation. 27232581 2016