Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.620 Biomarker disease BEFREE PPP1R21 function had not been studied except that a large scale affinity proteomics approach suggested an interaction with PIBF1 defective in Joubert syndrome. 30520571 2019
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.620 Biomarker disease BEFREE This is the second publication demonstrating the cause and effect relationship between PIBF1 and Joubert syndrome. 29695797 2018
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.620 GermlineCausalMutation disease ORPHANET An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes. 26167768 2015
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.620 Biomarker disease GENOMICS_ENGLAND An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes. 26167768 2015
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.620 GeneticVariation disease CLINVAR An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes. 26167768 2015
CUI: C4540389
Disease: JOUBERT SYNDROME 33
JOUBERT SYNDROME 33 		0.600 Biomarker disease GENOMICS_ENGLAND A biallelic 36-bp insertion in PIBF1 is associated with Joubert syndrome. 29695797 2018
CUI: C4540389
Disease: JOUBERT SYNDROME 33
JOUBERT SYNDROME 33 		0.600 GeneticVariation disease UNIPROT An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes. 26167768 2015
CUI: C4540389
Disease: JOUBERT SYNDROME 33
JOUBERT SYNDROME 33 		0.600 CausalMutation disease CLINVAR
CUI: C0004134
Disease: Ataxia
Ataxia 		0.400 Biomarker phenotype GENOMICS_ENGLAND An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes. 26167768 2015
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.400 Biomarker disease GENOMICS_ENGLAND An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes. 26167768 2015
CUI: C0004134
Disease: Ataxia
Ataxia 		0.400 Biomarker phenotype HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.400 Biomarker disease HPO
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.300 Biomarker phenotype GENOMICS_ENGLAND An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes. 26167768 2015
CUI: C4313693
Disease: Vermis hypoplasia
Vermis hypoplasia 		0.300 Biomarker phenotype GENOMICS_ENGLAND An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes. 26167768 2015
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		0.300 GermlineCausalMutation disease ORPHANET An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes. 26167768 2015
CUI: C0000821
Disease: Threatened abortion
Threatened abortion 		0.300 Biomarker phenotype CTD_human The impact of dydrogesterone supplementation on hormonal profile and progesterone-induced blocking factor concentrations in women with threatened abortion. 15760377 2005
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese. 24165912 2013
CUI: C1306620
Disease: Systolic blood pressure measurement
Systolic blood pressure measurement 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese. 24165912 2013
CUI: C0003578
Disease: Apnea
Apnea 		0.100 Biomarker phenotype HPO
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.100 Biomarker disease HPO
CUI: C0014065
Disease: Congenital cerebral hernia
Congenital cerebral hernia 		0.100 CausalMutation disease CLINVAR
CUI: C0014065
Disease: Congenital cerebral hernia
Congenital cerebral hernia 		0.100 Biomarker disease HPO
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.100 Biomarker disease HPO
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		0.100 Biomarker disease HPO