Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Autosomal Recessive Polycystic Kidney Disease
0.810 Biomarker disease BEFREE Together, these data provide what is, to our knowledge, the first conclusive evidence that ARPKD is not a homogeneous disorder and further establish DZIP1L as a second gene involved in ARPKD pathogenesis. 28530676 2017
Autosomal Recessive Polycystic Kidney Disease
0.810 Biomarker disease MGD Together, these data provide what is, to our knowledge, the first conclusive evidence that ARPKD is not a homogeneous disorder and further establish DZIP1L as a second gene involved in ARPKD pathogenesis. 28530676 2017
Autosomal Recessive Polycystic Kidney Disease
0.810 Biomarker disease GENOMICS_ENGLAND Together, these data provide what is, to our knowledge, the first conclusive evidence that ARPKD is not a homogeneous disorder and further establish DZIP1L as a second gene involved in ARPKD pathogenesis. 28530676 2017
Autosomal Recessive Polycystic Kidney Disease
0.810 Biomarker disease CTD_human Together, these data provide what is, to our knowledge, the first conclusive evidence that ARPKD is not a homogeneous disorder and further establish DZIP1L as a second gene involved in ARPKD pathogenesis. 28530676 2017
Autosomal Recessive Polycystic Kidney Disease
0.810 GermlineCausalMutation disease ORPHANET Together, these data provide what is, to our knowledge, the first conclusive evidence that ARPKD is not a homogeneous disorder and further establish DZIP1L as a second gene involved in ARPKD pathogenesis. 28530676 2017