Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
0.410 Biomarker disease BEFREE This report highlights the role of ARL6IP1 in the pathophysiology of insensitivity to pain and spastic paraplegia. 28471035 2018
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
0.050 Biomarker disease BEFREE Approach and Results: We detected a normal AIP1 form (named AIP1A) in the healthy aorta, but a shorter form of AIP1 (named AIP1B) was found in diseased aortae that contained atherosclerotic plaques and graft arteriosclerosis. 31619063 2020
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
0.050 Biomarker disease BEFREE AIP1-mediated stress signaling in atherosclerosis and arteriosclerosis. 25732743 2015
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
0.050 Biomarker disease BEFREE AIP1 prevents graft arteriosclerosis by inhibiting interferon-γ-dependent smooth muscle cell proliferation and intimal expansion. 21700930 2011
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
0.050 AlteredExpression disease BEFREE <b>Objective:</b> AIP1 expression is downregulated in human atherosclerotic plaques and global deletion of AIP1 in mice exacerbates atherosclerosis in ApoE-KO mouse models. 29731721 2018
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
0.050 Biomarker disease BEFREE AIP1 Suppresses Transplant Arteriosclerosis Through Inhibition of Vascular Smooth Muscle Cell Inflammatory Response to IFNγ. 30471213 2019
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.020 AlteredExpression disease BEFREE <b>Objective:</b> AIP1 expression is downregulated in human atherosclerotic plaques and global deletion of AIP1 in mice exacerbates atherosclerosis in ApoE-KO mouse models. 29731721 2018
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.020 Biomarker disease BEFREE AIP1-mediated stress signaling in atherosclerosis and arteriosclerosis. 25732743 2015
CUI: C0034152
Disease: Henoch-Schoenlein Purpura
Henoch-Schoenlein Purpura
0.020 Biomarker disease BEFREE Arl6IP1 RNAi flies display progressive locomotor deficits without a marked reduction in lifespan, recapitulating key features of HSP in human patients. 27170313 2016
CUI: C0034152
Disease: Henoch-Schoenlein Purpura
Henoch-Schoenlein Purpura
0.020 GeneticVariation disease BEFREE Our report shows that the phenotype associated with ARL6IP1 variants may be broader and more acute than so far reported and identifies fatal HSP as the severe end of the phenotypic spectrum of ARL6IP1 variants. 31272422 2019
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.010 GeneticVariation disease BEFREE By screening a peptoid library using surface plasmon resonance imaging, amyloid inhibitory peptoid 1 (AIP1) that has high affinity to Aβ42 is identified. 27714968 2017
CUI: C0002768
Disease: Congenital Pain Insensitivity
Congenital Pain Insensitivity
0.010 GeneticVariation disease BEFREE ARL6IP1 mutation causes congenital insensitivity to pain, acromutilation and spastic paraplegia. 28471035 2018
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.010 GeneticVariation disease BEFREE We show that a global or vascular endothelial cell (EC)-specific deletion of the AIP1 gene in mice augments tumor growth and metastasis in melanoma and breast cancer models. 26139244 2015
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.010 Biomarker group BEFREE Mechanisms for AIP1 function and regulation associated with human cardiovascular diseases need further investigations. 25732743 2015
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix
0.010 Biomarker disease BEFREE Our findings illustrate the biological significance of ARL6IP1 in cervical cancer progression, and provide novel evidence that ARL6IP1 may serve as a therapeutic target in the prevention of human cervical cancer. 20213509 2010
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.010 Biomarker disease BEFREE Hookworm recombinant AIP-1 is a novel therapeutic candidate for the treatment of inflammatory bowel diseases that can be explored for the prevention of acute inflammatory relapses, an important cause of colorectal cancer. 29114386 2017
CUI: C0010709
Disease: Cyst
Cyst
0.010 Biomarker disease BEFREE Moreover, loss of Aip1 impaired the apico-basal polarity of intestinal epithelial cell monolayers and inhibited formation of polarized epithelial cysts in 3-D Matrigel. 25792565 2015
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
0.010 Biomarker group BEFREE Hookworm recombinant AIP-1 is a novel therapeutic candidate for the treatment of inflammatory bowel diseases that can be explored for the prevention of acute inflammatory relapses, an important cause of colorectal cancer. 29114386 2017
CUI: C0025202
Disease: melanoma
melanoma
0.010 GeneticVariation disease BEFREE We show that a global or vascular endothelial cell (EC)-specific deletion of the AIP1 gene in mice augments tumor growth and metastasis in melanoma and breast cancer models. 26139244 2015
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.010 GeneticVariation phenotype BEFREE We show that a global or vascular endothelial cell (EC)-specific deletion of the AIP1 gene in mice augments tumor growth and metastasis in melanoma and breast cancer models. 26139244 2015
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 Biomarker group BEFREE However, the role of AIP1 in the tumor microenvironment has not been examined. 26139244 2015
Hereditary Sensory and Autonomic Neuropathies
0.010 Biomarker group BEFREE ARL6IP1 interacts with atlastin-1 responsible for SPG3A and HSAN type ID. 28471035 2018
CUI: C0030193
Disease: Pain
Pain
0.010 Biomarker phenotype BEFREE This report highlights the role of ARL6IP1 in the pathophysiology of insensitivity to pain and spastic paraplegia. 28471035 2018
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary
0.010 GeneticVariation disease BEFREE Mutations in ARL6IP1, which encodes a tetraspan membrane protein localized to the endoplasmic reticulum (ER), have been recently described in a large family with a complicated form of hereditary spastic paraplegia (HSP). 31272422 2019
CUI: C0042373
Disease: Vascular Diseases
Vascular Diseases
0.010 Biomarker group BEFREE However, the direct role of AIP1 in endothelium, vascular remodeling and associated vascular diseases has not been determined. 29731721 2018