Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.300 GeneticVariation disease UNIPROT
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.020 Biomarker phenotype BEFREE Several interactions of H19-hsa-mir-222-chromobox 2 (CBX2), H19-hsa-mir-330-phosphoinositide-3-kinase regulatory subunit 4 (PIK3R4), KCNQ1 opposite strand/antisense transcript 1 (KCNQ1OT1)/CTB-89H12.4-hsa-mir-374a-vascular endothelial growth factor A (VEGFA), MALAT1/X inactive specific transcript (XIST)/XIST antisense RNA (TSIX)-hsa-mir-340-tumor necrosis factor receptor superfamily member 10A (NFRSF10A) were identified to play key roles in the metastasis of ESCC. 30891809 2019
CUI: C0035920
Disease: Rubella
Rubella 		0.020 Biomarker disease BEFREE We measured antibodies to all rubella virus structural proteins (i.e., the glycoproteins E1 and E2 and the capsid C protein) and to the non-structural protein P150. 29145521 2017
CUI: C0035920
Disease: Rubella
Rubella 		0.020 Biomarker disease BEFREE The P150 and P90 replicase proteins of rubella virus (RUBV), a plus-strand RNA Togavirus, produce a unique cytoplasmic fiber network resembling microtubules. 20696450 2010
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.020 GeneticVariation disease BEFREE Mutations in the p150 subunit of the axonal transport protein dynactin (DCTN1) have been reported in patients with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). 17824900 2007
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.020 GeneticVariation disease BEFREE Mutations in the p150 subunit of the axonal transport protein dynactin (DCTN1) have been reported in patients with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). 17824900 2007
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.020 GeneticVariation disease BEFREE A heterozygous R1101K mutation of the p150 subunit of dynactin (DCTN1) is reported in a family with amyotrophic lateral sclerosis (ALS) and co-occurrence of frontotemporal dementia (FTD). 16240349 2005
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.020 GeneticVariation disease BEFREE A heterozygous R1101K mutation of the p150 subunit of dynactin (DCTN1) is reported in a family with amyotrophic lateral sclerosis (ALS) and co-occurrence of frontotemporal dementia (FTD). 16240349 2005
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.020 AlteredExpression phenotype BEFREE Furthermore, high p150 expression was more frequently seen in tumors at early invasive stages (p < 0.005), in tumors without metastases (both local and distant, p < 0.005) and in early TNM stages (p < 0.005) in general. 15382063 2004
CUI: C0015672
Disease: Fatigue
Fatigue 		0.010 GeneticVariation phenotype BEFREE Mouse patellar tendons (PT) and flexor digitorum longus (FDL) tendons were fatigue loaded while an integrated plane polariscope simultaneously assessed crimp properties at P150 and P570 days of age to model mature and aged tendon phenotypes (N = 10-11/group). 31286548 2020
CUI: C4552000
Disease: Episodic Kinesigenic Dyskinesia 1
Episodic Kinesigenic Dyskinesia 1 		0.010 Biomarker disease BEFREE These results suggested that Vps15 was critical to the protective autophagy in HUVECs induced by AngII, and PDK1/PKC signaling pathway was probably involved. 31356904 2019
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.010 GeneticVariation disease BEFREE Finally, we report that mutations in VPS15 are associated with cortical atrophy and epilepsy in humans. 29311744 2018
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		0.010 GeneticVariation disease BEFREE Finally, we report that mutations in VPS15 are associated with cortical atrophy and epilepsy in humans. 29311744 2018
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy 		0.010 GeneticVariation disease BEFREE Finally, we report that mutations in VPS15 are associated with cortical atrophy and epilepsy in humans. 29311744 2018
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.010 Biomarker disease BEFREE Both DD and GSDII show accumulation and altered localization of VPS15 in autophagy-incompetent fibers. 28102838 2017
CUI: C0342751
Disease: Generalized glycogen storage disease of infants
Generalized glycogen storage disease of infants 		0.010 Biomarker disease BEFREE Both DD and GSDII show accumulation and altered localization of VPS15 in autophagy-incompetent fibers. 28102838 2017
CUI: C0878677
Disease: Glycogen Storage Disease Type IIb
Glycogen Storage Disease Type IIb 		0.010 Biomarker disease BEFREE Both DD and GSDII show accumulation and altered localization of VPS15 in autophagy-incompetent fibers. 28102838 2017
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.010 GeneticVariation disease BEFREE Here, we identify a missense mutation in PIK3R4 (phosphoinositide 3-kinase regulatory subunit 4, named VPS15) in a family with a ciliopathy phenotype. 27882921 2016
CUI: C0011847
Disease: Diabetes
Diabetes 		0.010 Biomarker disease BEFREE On depletion of Vps15, the metabolic syndrome in genetic and diet-induced models of insulin resistance and diabetes is alleviated. 26387534 2015
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.010 Biomarker group BEFREE On depletion of Vps15, the metabolic syndrome in genetic and diet-induced models of insulin resistance and diabetes is alleviated. 26387534 2015
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		0.010 Biomarker disease BEFREE On depletion of Vps15, the metabolic syndrome in genetic and diet-induced models of insulin resistance and diabetes is alleviated. 26387534 2015
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 Biomarker group BEFREE Deregulation of chromatin assembly factor 1, p150 subunit A (CHAF1A) has recently been reported to be involved in the development of some cancer types. 24845563 2014
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 Biomarker group BEFREE Deregulation of chromatin assembly factor 1, p150 subunit A (CHAF1A) has recently been reported to be involved in the development of some cancer types. 24845563 2014
CUI: C0003857
Disease: Congenital arteriovenous malformation
Congenital arteriovenous malformation 		0.010 AlteredExpression disease BEFREE Thus, the activity of the Vps34/Vps15 complex is critical in disease conditions such as AVMs, and possibly a variety of other lysosomal storage diseases. 23630012 2013
CUI: C0005699
Disease: Blast Phase
Blast Phase 		0.010 AlteredExpression disease BEFREE In this study, whole-transcriptome sequencing of normal, chronic phase, and serially transplantable blast crisis chronic myeloid leukemia (CML) progenitors revealed increased IFN-γ pathway gene expression in concert with BCR-ABL amplification, enhanced expression of the IFN-responsive ADAR1 p150 isoform, and a propensity for increased adenosine-to-inosine RNA editing during CML progression. 23275297 2013