Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0220708
Disease: VATER Association
VATER Association 		0.500 Biomarker disease CTD_human VACTERL/caudal regression/Currarino syndrome-like malformations in mice with mutation in the proprotein convertase Pcsk5. 18519639 2008
CUI: C0220708
Disease: VATER Association
VATER Association 		0.500 Biomarker disease MGD VACTERL/caudal regression/Currarino syndrome-like malformations in mice with mutation in the proprotein convertase Pcsk5. 18519639 2008
CUI: C1531773
Disease: Currarino triad
Currarino triad 		0.310 GeneticVariation disease BEFREE VACTERL/caudal regression/Currarino syndrome-like malformations in mice with mutation in the proprotein convertase Pcsk5. 18519639 2008
CUI: C1531773
Disease: Currarino triad
Currarino triad 		0.310 Biomarker disease CTD_human VACTERL/caudal regression/Currarino syndrome-like malformations in mice with mutation in the proprotein convertase Pcsk5. 18519639 2008
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate 		0.300 Biomarker disease CTD_human VACTERL/caudal regression/Currarino syndrome-like malformations in mice with mutation in the proprotein convertase Pcsk5. 18519639 2008
CUI: C0005941
Disease: Bone Diseases, Developmental
Bone Diseases, Developmental 		0.300 Biomarker group CTD_human VACTERL/caudal regression/Currarino syndrome-like malformations in mice with mutation in the proprotein convertase Pcsk5. 18519639 2008
CUI: C0018816
Disease: Heart Septal Defects
Heart Septal Defects 		0.300 Biomarker group CTD_human VACTERL/caudal regression/Currarino syndrome-like malformations in mice with mutation in the proprotein convertase Pcsk5. 18519639 2008
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.300 Biomarker group CTD_human VACTERL/caudal regression/Currarino syndrome-like malformations in mice with mutation in the proprotein convertase Pcsk5. 18519639 2008
CUI: C0022360
Disease: Jaw Abnormalities
Jaw Abnormalities 		0.300 Biomarker group CTD_human VACTERL/caudal regression/Currarino syndrome-like malformations in mice with mutation in the proprotein convertase Pcsk5. 18519639 2008
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		0.300 Biomarker group CTD_human VACTERL/caudal regression/Currarino syndrome-like malformations in mice with mutation in the proprotein convertase Pcsk5. 18519639 2008
CUI: C0024115
Disease: Lung diseases
Lung diseases 		0.300 Biomarker group CTD_human VACTERL/caudal regression/Currarino syndrome-like malformations in mice with mutation in the proprotein convertase Pcsk5. 18519639 2008
CUI: C0026633
Disease: Mouth Abnormalities
Mouth Abnormalities 		0.300 Biomarker group CTD_human VACTERL/caudal regression/Currarino syndrome-like malformations in mice with mutation in the proprotein convertase Pcsk5. 18519639 2008
CUI: C0040588
Disease: Tracheoesophageal Fistula
Tracheoesophageal Fistula 		0.300 Biomarker disease CTD_human VACTERL/caudal regression/Currarino syndrome-like malformations in mice with mutation in the proprotein convertase Pcsk5. 18519639 2008
CUI: C0344490
Disease: Sacral agenesis
Sacral agenesis 		0.300 Biomarker disease CTD_human VACTERL/caudal regression/Currarino syndrome-like malformations in mice with mutation in the proprotein convertase Pcsk5. 18519639 2008
CUI: C0431415
Disease: Lumbosacral agenesis
Lumbosacral agenesis 		0.300 Biomarker disease CTD_human VACTERL/caudal regression/Currarino syndrome-like malformations in mice with mutation in the proprotein convertase Pcsk5. 18519639 2008
CUI: C0431943
Disease: Lower Extremity Deformities, Congenital
Lower Extremity Deformities, Congenital 		0.300 Biomarker group CTD_human VACTERL/caudal regression/Currarino syndrome-like malformations in mice with mutation in the proprotein convertase Pcsk5. 18519639 2008
CUI: C0795690
Disease: Congenital omphalocele
Congenital omphalocele 		0.300 Biomarker disease CTD_human VACTERL/caudal regression/Currarino syndrome-like malformations in mice with mutation in the proprotein convertase Pcsk5. 18519639 2008
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos 		0.300 Biomarker disease CTD_human VACTERL/caudal regression/Currarino syndrome-like malformations in mice with mutation in the proprotein convertase Pcsk5. 18519639 2008
CUI: C1838568
Disease: Sacral defect and anterior sacral meningocele
Sacral defect and anterior sacral meningocele 		0.300 Biomarker disease CTD_human VACTERL/caudal regression/Currarino syndrome-like malformations in mice with mutation in the proprotein convertase Pcsk5. 18519639 2008
CUI: C1838569
Disease: Caudal Dysgenesis Syndrome
Caudal Dysgenesis Syndrome 		0.300 Biomarker phenotype CTD_human VACTERL/caudal regression/Currarino syndrome-like malformations in mice with mutation in the proprotein convertase Pcsk5. 18519639 2008
CUI: C0149940
Disease: Sciatic Neuropathy
Sciatic Neuropathy 		0.200 Biomarker disease RGD The pro-protein convertase PC1 is induced in the transected sciatic nerve and is present in cultured Schwann cells: comparison with PC5, furin and PC7, implication in pro-BDNF processing. 9729404 1998
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.200 Biomarker group MGD
CUI: C1415817
Disease: HETEROTAXY, VISCERAL, 2, AUTOSOMAL
HETEROTAXY, VISCERAL, 2, AUTOSOMAL 		0.200 Biomarker disease MGD
CUI: C1844020
Disease: HETEROTAXY, VISCERAL, 1, X-LINKED
HETEROTAXY, VISCERAL, 1, X-LINKED 		0.200 Biomarker disease MGD
CUI: C1853444
Disease: Heterotaxy, Visceral, 3, Autosomal
Heterotaxy, Visceral, 3, Autosomal 		0.200 Biomarker disease MGD