Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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
CUI: C3151057
Disease: HETEROTAXY, VISCERAL, 4, AUTOSOMAL
HETEROTAXY, VISCERAL, 4, AUTOSOMAL 		0.200 Biomarker disease MGD
CUI: C3151867
Disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED 		0.200 Biomarker disease MGD
CUI: C3178805
Disease: Heterotaxy Syndrome
Heterotaxy Syndrome 		0.200 Biomarker disease MGD
CUI: C3553676
Disease: HETEROTAXY, VISCERAL, 6, AUTOSOMAL
HETEROTAXY, VISCERAL, 6, AUTOSOMAL 		0.200 Biomarker disease MGD
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: C0747845
Disease: early pregnancy
early pregnancy 		0.010 Biomarker phenotype BEFREE Here we show that PC6 protein is induced in the uterine stromal cells specifically at the site of embryo attachment during early pregnancy in mice. 15601911 2005
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