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: 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: 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: 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: 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: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.100 GeneticVariation disease GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis 		0.100 GeneticVariation disease GWASCAT Identification of Susceptibility Loci in IL6, RPS9/LILRB3, and an Intergenic Locus on Chromosome 21q22 in Takayasu Arteritis in a Genome-Wide Association Study. 25604533 2015
CUI: C0019061
Disease: Hemolytic-Uremic Syndrome
Hemolytic-Uremic Syndrome 		0.020 Biomarker disease BEFREE Subtilase cytotoxin (SubAB) is another STEC virulence factor that may contribute to HUS pathogenesis. 28718802 2017
CUI: C0019061
Disease: Hemolytic-Uremic Syndrome
Hemolytic-Uremic Syndrome 		0.020 Biomarker disease BEFREE Subtilase cytotoxin (SubAB) has also been associated with HUS pathogenesis. 31703347 2019
CUI: C0300948
Disease: Caudal Regression Syndrome
Caudal Regression Syndrome 		0.020 GeneticVariation disease BEFREE Loss of proprotein convertase subtilisin/kexin type 5 (Pcsk5) results in multiple developmental anomalies including cardiac malformations, caudal regression, pre-sacral mass, renal agenesis, anteroposterior patterning defects, and tracheo-oesophageal and anorectal malformations, and is a model for VACTERL/caudal regression/Currarino syndromes (VACTERL association - Vertebral anomalies, Anal atresia, Cardiac defects, Tracheoesophageal fistula and/or Esophageal atresia, Renal & Radial anomalies and Limb defects). 28446132 2017
CUI: C0300948
Disease: Caudal Regression Syndrome
Caudal Regression Syndrome 		0.020 GeneticVariation disease BEFREE We identified nonsynonymous mutations in PCSK5 in patients with VACTERL (vertebral, anorectal, cardiac, tracheoesophageal, renal, limb malformation OMIM 192350) and caudal regression syndrome, the phenotypic features of which resemble the mouse mutation. 18519639 2008