IGSF1, immunoglobulin superfamily member 1, 3547

N. diseases: 66; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.010 Biomarker disease BEFREE Adherens junction protein p120 is thought to be crucial for maintaining vascular integrity, which is important in many pathologies and diseases including atherosclerosis, vascular malformations, hemorrhagic stroke, sepsis and others. 31352174 2019
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.010 Biomarker disease BEFREE Adherens junction protein p120 is thought to be crucial for maintaining vascular integrity, which is important in many pathologies and diseases including atherosclerosis, vascular malformations, hemorrhagic stroke, sepsis and others. 31352174 2019
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid 		0.010 AlteredExpression disease BEFREE In this article, we will illuminate the correlation between IGSF1 expression and thyroid cancer. 31343762 2019
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.010 Biomarker disease BEFREE Interleukin-8 Secreted by Glioblastoma Cells Induces Microvascular Hyperpermeability Through NO Signaling Involving S-Nitrosylation of VE-Cadherin and p120 in Endothelial Cells. 31440166 2019
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		0.010 Biomarker group BEFREE Adherens junction protein p120 is thought to be crucial for maintaining vascular integrity, which is important in many pathologies and diseases including atherosclerosis, vascular malformations, hemorrhagic stroke, sepsis and others. 31352174 2019
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		0.010 AlteredExpression disease BEFREE In this article, we will illuminate the correlation between IGSF1 expression and thyroid cancer. 31343762 2019
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.010 Biomarker disease BEFREE Interleukin-8 Secreted by Glioblastoma Cells Induces Microvascular Hyperpermeability Through NO Signaling Involving S-Nitrosylation of VE-Cadherin and p120 in Endothelial Cells. 31440166 2019
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.010 Biomarker disease BEFREE Interleukin-8 Secreted by Glioblastoma Cells Induces Microvascular Hyperpermeability Through NO Signaling Involving S-Nitrosylation of VE-Cadherin and p120 in Endothelial Cells. 31440166 2019
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma 		0.010 AlteredExpression disease BEFREE In this article, we will illuminate the correlation between IGSF1 expression and thyroid cancer. 31343762 2019
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.010 Biomarker disease BEFREE Interleukin-8 Secreted by Glioblastoma Cells Induces Microvascular Hyperpermeability Through NO Signaling Involving S-Nitrosylation of VE-Cadherin and p120 in Endothelial Cells. 31440166 2019
CUI: C0009806
Disease: Constipation
Constipation 		0.010 GeneticVariation phenotype BEFREE This is the first report of a patient in whom constipation and short stature led to a diagnosis of CCH with a novel IGSF1 mutation. 29425110 2018
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.010 GeneticVariation disease BEFREE This is the first report of a patient in whom constipation and short stature led to a diagnosis of CCH with a novel IGSF1 mutation. 29425110 2018
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.010 AlteredExpression disease BEFREE The present study showed that increased miR-223 and decreased p120 levels are associated with colon cancer malignancy, and p120 expression is negatively correlated with miR-223 expression. 28969027 2017
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		0.010 AlteredExpression disease BEFREE The present study showed that increased miR-223 and decreased p120 levels are associated with colon cancer malignancy, and p120 expression is negatively correlated with miR-223 expression. 28969027 2017
CUI: C1134719
Disease: Invasive Ductal Breast Carcinoma
Invasive Ductal Breast Carcinoma 		0.010 AlteredExpression disease BEFREE Correlation between E-cadherin and p120 expression in invasive ductal breast cancer with a lobular component and MRI findings. 28779344 2017
CUI: C1842180
Disease: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder) 		0.010 GeneticVariation disease BEFREE Capillary malformation-arteriovenous malformation (CM-AVM) is a blood and lymphatic vessel (LV) disorder that is caused by inherited inactivating mutations of the RASA1 gene, which encodes p120 RasGAP (RASA1), a negative regulator of the Ras small GTP-binding protein. 28530642 2017
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		0.010 Biomarker disease BEFREE LINGO-1 has received particular attention since it inhibits axonal regeneration after spinal cord injury in a RhoA dependent manner while inhibiting leucine rich repeat and immunoglobulin-like domain-containing protein 1 (LINGO-1) disinhibits neuron outgrowth. 28966634 2017
CUI: C0020635
Disease: Hypopituitarism
Hypopituitarism 		0.010 GeneticVariation disease BEFREE Mutations of IGSF1 should therefore be considered in males with isolated hypopituitarism that includes TSH deficiency. 27146357 2016
CUI: C0001206
Disease: Acromegaly
Acromegaly 		0.010 Biomarker disease BEFREE IGSF1 was sequenced in 21 patients with gigantism or acromegaly and 92 healthy individuals. 25527509 2015
CUI: C0001430
Disease: Adenoma
Adenoma 		0.010 GeneticVariation group BEFREE Immunohistochemistry showed increased IGSF1 staining in the GH-producing tumor from the patient with the IGSF1 p.N604T variant compared with a GH-producing adenoma from a patient negative for any IGSF1 variants and with normal control pituitary tissue. 25527509 2015
CUI: C0017547
Disease: Gigantism
Gigantism 		0.010 Biomarker disease BEFREE IGSF1 was sequenced in 21 patients with gigantism or acromegaly and 92 healthy individuals. 25527509 2015
CUI: C0342538
Disease: Constitutional delay of growth and puberty
Constitutional delay of growth and puberty 		0.010 GeneticVariation disease BEFREE There is insufficient evidence to conclude that the three observed VUCSs in IGSF1 are associated with CDGP, making it unlikely that IGSF1 mutations are a prevalent cause of CDGP. 25354429 2015
CUI: C1836264
Disease: Congenital bilateral ptosis
Congenital bilateral ptosis 		0.010 GeneticVariation disease BEFREE Comparison of the gene content of the individual duplications with the respective phenotypes suggested three critical regions with candidate genes (AIFM1, RAB33A, GPC3 and IGSF1) for the common phenotypes, including candidate loci for congenital bilateral ptosis, small head circumference, short stature, genital and digital defects. 24326587 2014
CUI: C1176475
Disease: Ductal Carcinoma
Ductal Carcinoma 		0.010 Biomarker disease BEFREE These results demonstrate that E-cadherin-negative ductal carcinoma is rare, and in these cases p120 and β-catenin maintained their membranous localization, suggesting a functional E-cadherin-membrane complex. 23347178 2013
CUI: C1527349
Disease: Ductal Breast Carcinoma
Ductal Breast Carcinoma 		0.010 Biomarker disease BEFREE These results demonstrate that E-cadherin-negative ductal carcinoma is rare, and in these cases p120 and β-catenin maintained their membranous localization, suggesting a functional E-cadherin-membrane complex. 23347178 2013