Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation
0.300 Biomarker disease CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial
0.300 Biomarker phenotype CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
CUI: C0917816
Disease: Mental deficiency
Mental deficiency
0.300 Biomarker disease CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.300 Biomarker group CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1
0.100 GeneticVariation disease CLINVAR Differences in disease severity but similar telomere lengths in genetic subgroups of patients with telomerase and shelterin mutations. 21931702 2011
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1
0.100 GeneticVariation disease CLINVAR Functional analysis of the pseudoknot structure in human telomerase RNA. 15849264 2005
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.030 Biomarker group BEFREE Instead, we find that INPP4A partially localizes to endosomes and that loss of INPP4A in HAP1 cancer cells perturbs signaling via AKT kinase (AKT) and mTOR complex 1 (mTORC1). 31831620 2020
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.030 Biomarker group BEFREE Instead, we find that INPP4A partially localizes to endosomes and that loss of INPP4A in HAP1 cancer cells perturbs signaling via AKT kinase (AKT) and mTOR complex 1 (mTORC1). 31831620 2020
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.030 GeneticVariation group BEFREE In addition, we identified three heterozygous candidate missense variants in known cancer susceptibility genes (BMPR1A, BRIP1, and SRC), three truncating variants in possibly novel cancer genes (CLSPN, SEC24B, SSH2) and four candidate missense variants in ACACA, NR2C2, INPP4A, and DIDO1. 30809968 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.030 GeneticVariation group BEFREE In addition, we identified three heterozygous candidate missense variants in known cancer susceptibility genes (BMPR1A, BRIP1, and SRC), three truncating variants in possibly novel cancer genes (CLSPN, SEC24B, SSH2) and four candidate missense variants in ACACA, NR2C2, INPP4A, and DIDO1. 30809968 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.030 Biomarker group BEFREE INPP4A and GSK3β were the direct targets of miR-940, and knockdown of INPP4A or GSK3β significantly increased cancer cell proliferation, migration, and invasion and inhibited cell apoptosis. 28337959 2018
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.030 Biomarker group BEFREE INPP4A and GSK3β were the direct targets of miR-940, and knockdown of INPP4A or GSK3β significantly increased cancer cell proliferation, migration, and invasion and inhibited cell apoptosis. 28337959 2018
CUI: C0004096
Disease: Asthma
Asthma
0.020 Biomarker disease BEFREE INPP4A was present in blood and BAL fluid, and this extracellular INPP4A was reduced in patients with asthma and mice with allergic airway inflammation. 30335467 2019
CUI: C0004096
Disease: Asthma
Asthma
0.020 GeneticVariation disease BEFREE In our study, INPP4A was identified as a novel asthma candidate gene, whereby the +110832A/G (Thr/Ala) variant affected its stability and was significantly associated with asthma. 18187694 2008
CUI: C0004096
Disease: Asthma
Asthma
0.020 GeneticVariation disease LHGDN Our genetic association studies of 21 human genes in 171 trios led to the identification of a biallelic repeat (rs3217304) in INPP4A, associated with atopic asthma (P = 0.009). 18187694 2008
Malignant neoplasm of urinary bladder
0.010 Biomarker disease BEFREE MicroRNA-940 Targets INPP4A or GSK3β and Activates the Wnt/β-Catenin Pathway to Regulate the Malignant Behavior of Bladder Cancer Cells. 28337959 2018
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.010 Biomarker disease BEFREE MicroRNA-940 Targets INPP4A or GSK3β and Activates the Wnt/β-Catenin Pathway to Regulate the Malignant Behavior of Bladder Cancer Cells. 28337959 2018
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.010 Biomarker disease BEFREE Overexpression of miR-4443 may promote the resistance of NSCLC cells to EPI by targeting INPP4A and regulating the activation of JAK2/STAT3 pathway. miR-4443 may serve as a drug target for NSCLC. 30001772 2018
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma
0.010 Biomarker disease BEFREE MicroRNA-4286 promotes esophageal carcinoma development by targeting INPP4A to evoke the JAK2/STAT3 pathway activation. 29880087 2018
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder
0.010 Biomarker disease BEFREE MicroRNA-940 Targets INPP4A or GSK3β and Activates the Wnt/β-Catenin Pathway to Regulate the Malignant Behavior of Bladder Cancer Cells. 28337959 2018
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.010 Biomarker phenotype BEFREE INPP4A and GSK3β were the direct targets of miR-940, and knockdown of INPP4A or GSK3β significantly increased cancer cell proliferation, migration, and invasion and inhibited cell apoptosis. 28337959 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 Biomarker group BEFREE However, certain chromatin remodeling genes (MLL1, MLL2, MLL3, BAP1, PBRM1, EED, and ATRX) were found to be mutated in 7/22 (32%) of intraductal tubulopapillary neoplasms and 27% harbored phosphatidylinositol 3-kinase (PI3K) pathway (PIK3CA, PIK3CB, INPP4A, and PTEN) mutations. 28776573 2017
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.010 Biomarker disease BEFREE Our findings indicate that upregulation of miR-935 may promote pancreatic cancer cell proliferation and migration and inhibit cell apoptosis by targeting INPP4A. miR-935 and INPP4A may serve as potential targets in the therapy of pancreatic cancer. 27733216 2017
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
0.010 Biomarker disease BEFREE Our findings indicate that upregulation of miR-935 may promote pancreatic cancer cell proliferation and migration and inhibit cell apoptosis by targeting INPP4A. miR-935 and INPP4A may serve as potential targets in the therapy of pancreatic cancer. 27733216 2017
CUI: C0004623
Disease: Bacterial Infections
Bacterial Infections
0.010 Biomarker group BEFREE The present study focused on the role of inositol polyphosphate-4-phosphatase type I (Inpp4a), which dephosphorylates PtdIns(3,4)P2 to PtdIns(3)P, in bacterial infections. 27252170 2016