POTEF, POTE ankyrin domain family member F, 728378

N. diseases: 215; N. variants: 2
Disease: SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1858517
Disease: SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1
SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1 		0.010 AlteredExpression disease BEFREE Impaired Local Translation of β-actin mRNA in Ighmbp2-Deficient Motoneurons: Implications for Spinal Muscular Atrophy with respiratory Distress (SMARD1). 29928949 2018