Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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 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 GermlineCausalMutation disease ORPHANET 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 CausalMutation disease CLINVAR
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 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: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.410 Biomarker disease HPO
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
CUI: C0240116
Disease: Hyperactive patellar reflex
Hyperactive patellar reflex 		0.100 Biomarker phenotype HPO
CUI: C0271683
Disease: Polyneuropathy, Motor
Polyneuropathy, Motor 		0.100 Biomarker disease HPO
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		0.100 Biomarker phenotype HPO
CUI: C0558845
Disease: Reflex, Ankle, Absent
Reflex, Ankle, Absent 		0.100 Biomarker phenotype HPO
CUI: C4021642
Disease: Abnormality of the Achilles tendon
Abnormality of the Achilles tendon 		0.100 Biomarker disease HPO
CUI: C4025676
Disease: Abnormality of the knee
Abnormality of the knee 		0.100 Biomarker disease HPO
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 Suppresses Transplant Arteriosclerosis Through Inhibition of Vascular Smooth Muscle Cell Inflammatory Response to IFNγ. 30471213 2019
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-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: 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