FERMT1, fermitin family member 1, 55612

N. diseases: 104; N. variants: 27
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin
0.100 Biomarker phenotype HPO
CUI: C1260926
Disease: Abnormal pigmentation
Abnormal pigmentation
0.100 Biomarker phenotype HPO
CUI: C4021800
Disease: Abnormality of dental enamel
Abnormality of dental enamel
0.100 Biomarker group HPO
CUI: C3839753
Disease: Abnormality of nail of toe
Abnormality of nail of toe
0.100 Biomarker phenotype HPO
CUI: C4025329
Disease: Abnormality of the anus
Abnormality of the anus
0.100 Biomarker disease HPO
CUI: C1842083
Disease: Abnormality of the ribs
Abnormality of the ribs
0.100 Biomarker disease HPO
CUI: C4476927
Disease: Acral blistering
Acral blistering
0.100 Biomarker phenotype HPO
CUI: C0030044
Disease: Acrocephaly
Acrocephaly
0.100 Biomarker disease HPO
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.010 AlteredExpression disease BEFREE Kindlin-1 expression was associated with metastasis-free survival in both breast and lung adenocarcinoma (breast cancer: hazard ratio of lung metastasis = 2.55, 95% confidence intervals [CI] = 1.39 to 4.69, P = .001; lung cancer: hazard ratio of metastasis = 1.96, 95% CI = 1.25 to 3.07, P = .001). 21832234 2011
CUI: C1527388
Disease: Amniotic Bands
Amniotic Bands
0.100 Biomarker disease HPO
CUI: C0002871
Disease: Anemia
Anemia
0.100 Biomarker disease HPO
CUI: C4024737
Disease: Aplasia/Hypoplasia of the skin
Aplasia/Hypoplasia of the skin
0.100 Biomarker phenotype HPO
CUI: C0003578
Disease: Apnea
Apnea
0.010 Biomarker phenotype BEFREE Here, we show that in a mouse model of polyomavirus middle T antigen-induced mammary tumorigenesis, loss of Kindlin-1 reduced early pulmonary arrest and later development of lung metastasis. 29330144 2018
CUI: C0151514
Disease: Atrophic condition of skin
Atrophic condition of skin
0.130 Biomarker group BEFREE How and why deficiency of fermitin family homolog-1 results in skin atrophy and blistering are unclear. 19762710 2009
CUI: C0151514
Disease: Atrophic condition of skin
Atrophic condition of skin
0.130 Biomarker group BEFREE Mutations in the FERMT1 gene (also known as KIND1), encoding the focal adhesion protein kindlin-1, underlie the Kindler syndrome (KS), an autosomal recessive skin disorder with an intriguing progressive phenotype comprising skin blistering, photosensitivity, progressive poikiloderma with extensive skin atrophy, and propensity to skin cancer. 21936020 2011
CUI: C0151514
Disease: Atrophic condition of skin
Atrophic condition of skin
0.130 Biomarker group HPO
CUI: C0151514
Disease: Atrophic condition of skin
Atrophic condition of skin
0.130 Biomarker group BEFREE Here, we show that deleting Kindlin-1 in mice gives rise to skin atrophy and an intestinal epithelial dysfunction with similarities to human UC. 19057668 2008
CUI: C4021786
Disease: Atypical scarring of skin
Atypical scarring of skin
0.100 Biomarker phenotype HPO
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.010 AlteredExpression disease BEFREE Kindlin-1 expression was consistently higher in tumors than in normal tissues in various cancer types metastasizing to the lungs, including colon and bladder cancer. 21832234 2011
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.030 Biomarker disease BEFREE We highlight the specific link between Kindlin-1 and breast cancer progression. 30477537 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.030 Biomarker disease BEFREE Overall, our results show that Kindlin-1 contributes functionally to early pulmonary metastasis of breast cancer.<b>Significance:</b> These findings provide a mechanistic proof in mice that Kindin-1, an integrin-binding adaptor protein, is a critical mediator of early lung metastasis of breast cancer.<i></i>. 29330144 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.030 AlteredExpression disease BEFREE Kindlin-1 expression was associated with metastasis-free survival in both breast and lung adenocarcinoma (breast cancer: hazard ratio of lung metastasis = 2.55, 95% confidence intervals [CI] = 1.39 to 4.69, P = .001; lung cancer: hazard ratio of metastasis = 1.96, 95% CI = 1.25 to 3.07, P = .001). 21832234 2011
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.030 Biomarker phenotype BEFREE The presence of multiple FERM domains characteristic of cytoplasmic plasma membrane to cytoskeleton linkers and a PH domain typical of membrane-anchored proteins involved in signal transduction suggest an important role for URP1 in tumorigenesis. 12697302 2003
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.030 GeneticVariation phenotype BEFREE Mutations in the corresponding gene (KIND1) cause Kindler syndrome (KS), which is manifested by skin blistering, poikiloderma, photosensitivity and carcinogenesis. 17955455 2007
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.030 Biomarker phenotype BEFREE These results suggest a role for kindlin-1 in breast cancer lung metastasis and lung tumorigenesis and advance our understanding of kindlin-1 as a regulator of TGFβ signaling, offering new avenues for therapeutic intervention against cancer progression. 21832234 2011