ABCA4, ATP binding cassette subfamily A member 4, 24

N. diseases: 227; N. variants: 372
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.010 Biomarker disease BEFREE Adaptive optics high-resolution images of cones, rods, and RPE cells at the leading disease front of STGD1 macular atrophy show an AF pattern that appears to colocalize with photoreceptors or may result from a combination of AF signals from both RPE cells and photoreceptors. 30896765 2019
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		0.010 Biomarker group BEFREE Then, we found that RMP was bound up with the status of nodal and T stage which indicating that RMP may be related to the growth and malignant degree of EC. 31333787 2019
CUI: C0029883
Disease: Otitis Media with Effusion
Otitis Media with Effusion 		0.010 Biomarker disease BEFREE Likewise, inflammasome activation in blue light-irradiated Abca4-/- mouse and Leu-Leu-OMe-treated wild-type mouse RPE/choroid/sclera eye cups was significantly reduced by treatment with the NLRP3 inhibitors. 30739141 2019
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		0.010 Biomarker disease BEFREE Then, we found that RMP was bound up with the status of nodal and T stage which indicating that RMP may be related to the growth and malignant degree of EC. 31333787 2019
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.010 Biomarker phenotype BEFREE Effect of RMP on tumor progression in nude mouse models was assessed by measurement of volume and weight of tumors. 31333787 2019
CUI: C0242852
Disease: Proliferative vitreoretinopathy
Proliferative vitreoretinopathy 		0.010 AlteredExpression disease BEFREE Retinal-specific ATP-binding cassette transporter (ABCA4) expression was one of the most increased proteins in PVR tissue. 30738069 2019
CUI: C0391976
Disease: Pain Disorder
Pain Disorder 		0.010 Biomarker disease BEFREE Gain-of-function variants in Nav1.9, which cause smaller depolarizations of RMP, have been identified in patients with familial episodic pain type 3 (FEPS3) and the more common pain disorder small fiber neuropathy. 31551682 2019
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus 		0.010 Biomarker disease BEFREE Then, we found that RMP was bound up with the status of nodal and T stage which indicating that RMP may be related to the growth and malignant degree of EC. 31333787 2019
CUI: C3266262
Disease: Multiple Chronic Conditions
Multiple Chronic Conditions 		0.010 Biomarker disease BEFREE Multi-platform imaging in ABCA4-Associated Disease. 31015497 2019
CUI: C3276706
Disease: Small Fiber Neuropathy
Small Fiber Neuropathy 		0.010 Biomarker disease BEFREE Gain-of-function variants in Nav1.9, which cause smaller depolarizations of RMP, have been identified in patients with familial episodic pain type 3 (FEPS3) and the more common pain disorder small fiber neuropathy. 31551682 2019
CUI: C0008373
Disease: Cholesteatoma
Cholesteatoma 		0.010 Biomarker disease BEFREE Are human ATP-binding cassette transporter C11 and earwax associated with the incidence of cholesteatoma? 29602456 2018
CUI: C0025229
Disease: Melioidosis
Melioidosis 		0.010 Biomarker disease BEFREE Inactivation of bpsl1039-1040 ATP-binding cassette transporter reduces intracellular survival in macrophages, biofilm formation and virulence in the murine model of Burkholderia pseudomallei infection. 29771915 2018
CUI: C0078917
Disease: Albinism, Ocular
Albinism, Ocular 		0.010 GeneticVariation disease BEFREE Carriers of mutations in X-linked GPR143/OA1, a common form of ocular albinism; patients with confirmed mutations in ABCA4 conferring increased SW-AF; and subjects with healthy eyes were studied. 29847651 2018
CUI: C1288283
Disease: Atrophoderma maculatum
Atrophoderma maculatum 		0.010 Biomarker disease BEFREE Children with a clinical and molecular diagnosis of ABCA4-associated retinopathy without evidence of macular atrophy. 29310964 2018
CUI: C1839259
Disease: Bulbo-Spinal Atrophy, X-Linked
Bulbo-Spinal Atrophy, X-Linked 		0.010 Biomarker disease BEFREE In mouse models of SBMA, motor dysfunction is associated with pronounced defects in neuromuscular transmission, including defects in evoked transmitter release (quantal content, QC) and fiber membrane excitability (based on the resting membrane potential, RMP). 29897452 2018
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		0.010 Biomarker disease BEFREE This colloidal formulation of QU-encapsulated LS grafted with RMP-7 and Lf (RMP-7-Lf-QU-LS) was used to traverse human brain microvascular endothelial cells (HBMECs) regulated by human astrocytes (HAs) and to treat SK-N-MC cells after an insult with cytotoxic β-amyloid (Aβ) fibrils. 28435263 2017
CUI: C0007785
Disease: Cerebral Infarction
Cerebral Infarction 		0.010 Biomarker disease BEFREE The previous reported ROS-trapping compound, quinolyl nitrone RP19, is here being assayed to induce neuroprotection to ischemia-reperfusion injury in three experimental ischemia models: (i) oxygen-glucose deprivation (OGD) on primary neuronal cultures; (ii) transient global cerebral ischemia in four-vessel occlusion model; and (iii) transient focal cerebral ischemia in middle cerebral artery occlusion (tMCAO) model. 28731692 2017
CUI: C0007786
Disease: Brain Ischemia
Brain Ischemia 		0.010 Biomarker disease BEFREE The molecule proposed, quinolyl nitrone RP19, induced substantial neuroprotection on experimental ischemia in neuronal cells, and against ischemic injury following transient brain ischemia in treated animals. 28731692 2017
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		0.010 GeneticVariation disease BEFREE Chronic sclerosing cholangitis was mimicked using the ATP-binding cassette transporter B4 knockout <i>(Abcb4</i> <sup>-/-</sup>) mouse model. 28194423 2017
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.010 GeneticVariation group BEFREE To create gender-specific percentile curves for percent body fat (%BF) by Bio electrical Impedance Analysis (BIA) for screening adiposity and risk of hypertension in Indian children and generate reference curves for percent fat-free mass (%FFM), muscle mass (%LM) and bone mineral content (BMC) by using bioelectrical impedance. 28952454 2017
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.010 Biomarker disease BEFREE In addition, RMP-7-Lf-QU-LS significantly reduced Aβ-induced neurotoxicity and improved the viability of SK-N-MC cells. 28435263 2017
CUI: C0162429
Disease: Malnutrition
Malnutrition 		0.010 Biomarker disease BEFREE The approach aims to assess whether nutritional intake is sufficient but is imprecise because a low BMI does not always indicate malnutrition and individuals with increasing BMI's may have decreasing FFM's. 27769782 2017
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		0.010 Biomarker disease BEFREE Photodynamic Therapy Using Photosensitizer-Encapsulated Polymeric Nanoparticle to Overcome ATP-Binding Cassette Transporter Subfamily G2 Function in Pancreatic Cancer. 28416605 2017
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		0.010 Biomarker disease BEFREE Photodynamic Therapy Using Photosensitizer-Encapsulated Polymeric Nanoparticle to Overcome ATP-Binding Cassette Transporter Subfamily G2 Function in Pancreatic Cancer. 28416605 2017
CUI: C0566602
Disease: Primary sclerosing cholangitis
Primary sclerosing cholangitis 		0.010 GeneticVariation disease BEFREE Chronic sclerosing cholangitis was mimicked using the ATP-binding cassette transporter B4 knockout <i>(Abcb4</i> <sup>-/-</sup>) mouse model. 28194423 2017