Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 AlteredExpression group BEFREE Herein, we explored PIEZO2 expression, prognosis and underlying mechanisms in cancer. 31058608 2019
CUI: C0007129
Disease: Merkel cell carcinoma
Merkel cell carcinoma 		0.010 AlteredExpression disease BEFREE Application of step indentations under the whole-cell mode of the patch-clamp technique, and positive pressures ≥5 mmHg under the cell-attached mode, activated piezo2 currents in MCC-13 and human embryonic kidney 293 T cells where piezo2 was overexpressed. 31015490 2019
CUI: C0423729
Disease: Chest pain on breathing
Chest pain on breathing 		0.010 Biomarker phenotype BEFREE PIEZO2 is a mechanosensitive cation channel that has a key role in sensing touch, tactile pain, breathing and blood pressure. 31435011 2019
CUI: C0575157
Disease: Deformity of spine
Deformity of spine 		0.010 Biomarker disease BEFREE Based on the present case, posterior spinal fusion represents a good treatment option for severe spinal deformity in PIEZO2-deficient arthrogryposis. 31770315 2019
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure 		0.010 GeneticVariation disease BEFREE PIEZO2 mutations have been described in dominant arthrogryposis, but homozygous mutations of PIEZO2 may also be responsible for more complex clinical patterns, associating distal arthrogryposis, neonatal respiratory insufficiency, scoliosis and proprioceptive impairment. 30578100 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 AlteredExpression group BEFREE Herein, we explored PIEZO2 expression, prognosis and underlying mechanisms in cancer. 31058608 2019
CUI: C3278509
Disease: Spinal fusion
Spinal fusion 		0.010 Biomarker disease BEFREE Based on the present case, posterior spinal fusion represents a good treatment option for severe spinal deformity in PIEZO2-deficient arthrogryposis. 31770315 2019
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.010 AlteredExpression disease BEFREE In our study, we aimed to evaluate the Piezo1 and Piezo2 expression as developmental in mouse bladder tissue and bladder cancer tissue of mice and humans. 30010255 2018
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.010 AlteredExpression disease BEFREE In our study, we aimed to evaluate the Piezo1 and Piezo2 expression as developmental in mouse bladder tissue and bladder cancer tissue of mice and humans. 30010255 2018
CUI: C0011603
Disease: Dermatitis
Dermatitis 		0.010 GeneticVariation disease BEFREE Our results show that individuals with loss-of-function mutations in PIEZO2 completely failed to develop sensitization and painful reactions to touch after skin inflammation. 30305456 2018
CUI: C0155765
Disease: Disease of capillaries
Disease of capillaries 		0.010 GeneticVariation group BEFREE Microangiopathy and mild mixed neuromyopathic alterations in a patient with homozygous PIEZO-2 mutation. 30389422 2018
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		0.010 AlteredExpression disease BEFREE In our study, we aimed to evaluate the Piezo1 and Piezo2 expression as developmental in mouse bladder tissue and bladder cancer tissue of mice and humans. 30010255 2018
CUI: C0751213
Disease: Tactile Allodynia
Tactile Allodynia 		0.010 Biomarker phenotype BEFREE We hypothesized that loss of PIEZO2 might eliminate tactile allodynia in humans. 30305456 2018
CUI: C3875321
Disease: Inflammatory dermatosis
Inflammatory dermatosis 		0.010 GeneticVariation disease BEFREE Our results show that individuals with loss-of-function mutations in PIEZO2 completely failed to develop sensitization and painful reactions to touch after skin inflammation. 30305456 2018
CUI: C0009917
Disease: Contracture
Contracture 		0.010 GeneticVariation disease BEFREE Here, we report a consanguineous family with three siblings who showed short stature, scoliosis, gross motor impairment, and a progressive form of contractures involving the distal joints that is distinct from that found in patients with dominant mutations in PIEZO2. 27607563 2017
CUI: C0022104
Disease: Irritable Bowel Syndrome
Irritable Bowel Syndrome 		0.010 Biomarker disease BEFREE Piezo2 is a candidate biomarker for visceral hypersensitivity in IBS. 28044050 2017
CUI: C0030552
Disease: Paresis
Paresis 		0.010 GeneticVariation phenotype BEFREE Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defects. 27974811 2017
CUI: C0036686
Disease: Gram positive sepsis
Gram positive sepsis 		0.010 Biomarker group BEFREE In secondary analyses, SNPs for ELMO1, IRAK2 (Gram-positive sepsis), RALA, IMMP2L (Gram-negative sepsis) and PIEZO2 (fungal sepsis) met target significance levels. 28283553 2017
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.010 GeneticVariation phenotype BEFREE Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defects. 27974811 2017
CUI: C0151825
Disease: Bone pain
Bone pain 		0.010 Biomarker phenotype BEFREE Piezo2 is a mechanically gated ion channel that has recently been reported to be expressed by most myelinated bone marrow nociceptors and might be a target for treatments directed against mechanically induced bone pain. 28955292 2017
CUI: C0232066
Disease: Induced apnea
Induced apnea 		0.010 Biomarker disease BEFREE Piezo2 senses airway stretch and mediates lung inflation-induced apnoea. 28002412 2017
CUI: C0476273
Disease: Respiratory distress
Respiratory distress 		0.010 Biomarker phenotype BEFREE Here we show that global and sensory neuron-specific ablation of the mechanically activated ion channel Piezo2 causes respiratory distress and death in newborn mice. 28002412 2017
CUI: C1704421
Disease: Skin Pigmentation Disorder
Skin Pigmentation Disorder 		0.010 AlteredExpression group BEFREE Dopaminergic activation increases expression of the heat-sensitive TRPV1 ion channel and reduces expression of the mechanically-sensitive Piezo2 channel; thermal threshold is lower and mechanical threshold is higher in pigmented skin. 28835637 2017
CUI: C0017638
Disease: Glioma
Glioma 		0.010 Biomarker disease BEFREE Piezo2 could regulate glioma angiogenesis via Ca2+/Wnt11/β-catenin signaling in endothelial cells. 27329839 2016
CUI: C1112616
Disease: Loss of proprioception
Loss of proprioception 		0.010 GeneticVariation phenotype BEFREE Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis. 27843126 2016