Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: C0151825
Disease: Bone pain
Bone pain
0.010 Biomarker phenotype BEFREE Proteomic profiling reveals Arl6ip-1 as a candidate target in cancer-induced bone pain rat model after oxycodone treatment. 30708128 2019
Complicated hereditary spastic paraplegia
0.010 GeneticVariation disease BEFREE Truncating ARL6IP1 variant as the genetic cause of fatal complicated hereditary spastic paraplegia. 31272422 2019
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
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: 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
Squamous cell carcinoma of esophagus
0.010 Biomarker disease BEFREE AIP1 could be a promising biomarker for predicting ESCC prognosis and a potential target for anti-angiogenic therapy. 30464518 2018
Indifference to Pain, Congenital, Autosomal Recessive
0.010 GeneticVariation disease BEFREE ARL6IP1 mutation causes congenital insensitivity to pain, acromutilation and spastic paraplegia. 28471035 2018
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: 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: 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: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma
0.010 Biomarker disease BEFREE Finally, 3 patients with AIP1 were diagnosed with cholangiocellular carcinoma (CCC).<i>Conclusion</i>. 28348580 2017
CUI: C0232197
Disease: Fibrillation
Fibrillation
0.010 Biomarker disease BEFREE AIP1 is demonstrated to inhibit Aβ42 oligomerization and fibrillation and to rescue Aβ42-induced cytotoxicity through decreasing the content of Aβ42 oligomers that is related to cell membrane permeability. 27714968 2017
CUI: C1707444
Disease: Columnar Cell Change of the Breast
Columnar Cell Change of the Breast
0.010 GeneticVariation phenotype BEFREE Finally, 3 patients with AIP1 were diagnosed with cholangiocellular carcinoma (CCC).<i>Conclusion</i>. 28348580 2017
Malignant neoplasm of colon and/or rectum
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: 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: 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: 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
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
0.010 AlteredExpression phenotype BEFREE AIP1 Expression in Tumor Niche Suppresses Tumor Progression and Metastasis. 26139244 2015
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
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: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.010 GeneticVariation disease BEFREE A common genetic variant (97906C>A) of DAB2IP/AIP1 is associated with an increased risk and early onset of lung cancer in Chinese males. 22046421 2011