Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 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: 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
CUI: C0393556
Disease: Complicated hereditary spastic paraplegia
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: 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: C0684249
Disease: Carcinoma of lung
Carcinoma 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
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary 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
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
CUI: C1855739
Disease: Indifference to Pain, Congenital, Autosomal Recessive
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: C3810294
Disease: SPASTIC PARAPLEGIA 61, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 61, AUTOSOMAL RECESSIVE 		0.700 Biomarker disease GENOMICS_ENGLAND Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. 24482476 2014
CUI: C3810294
Disease: SPASTIC PARAPLEGIA 61, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 61, AUTOSOMAL RECESSIVE 		0.700 Biomarker disease GENOMICS_ENGLAND ARL6IP1 mutation causes congenital insensitivity to pain, acromutilation and spastic paraplegia. 28471035 2018
CUI: C3810294
Disease: SPASTIC PARAPLEGIA 61, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 61, AUTOSOMAL RECESSIVE 		0.700 Biomarker disease CTD_human
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.410 Biomarker disease HPO
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: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.410 Biomarker disease GENOMICS_ENGLAND This report highlights the role of ARL6IP1 in the pathophysiology of insensitivity to pain and spastic paraplegia. 28471035 2018
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms 		0.300 Biomarker group CTD_human Global analysis of differentially expressed genes in androgen-independent prostate cancer. 17199135 2007
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.300 Biomarker disease CTD_human Global analysis of differentially expressed genes in androgen-independent prostate cancer. 17199135 2007
CUI: C0151313
Disease: Sensory neuropathy
Sensory neuropathy 		0.100 Biomarker disease HPO
CUI: C0152025
Disease: Polyneuropathy
Polyneuropathy 		0.100 Biomarker disease HPO
CUI: C0231698
Disease: Gait, Scissors
Gait, Scissors 		0.100 Biomarker phenotype HPO