DES, desmin, 1674

N. diseases: 330; N. variants: 63
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		0.010 Biomarker disease BEFREE This study provides substantial support for translation of an adeno-associated virus serotype 9-mediated TAZ gene replacement strategy using a Des promoter for human BTHS patients in the clinic. 30070157 2019
CUI: C4021815
Disease: Abnormal palate morphology
Abnormal palate morphology 		0.100 CausalMutation disease CLINVAR
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		0.010 GeneticVariation disease BEFREE Myofibrillar myopathy with congenital cataract and skeletal anomalies without mutations in the desmin, alphaB-crystallin, myotilin, LMNA or SEPN1 genes. 17005401 2006
CUI: C3697716
Disease: Acute flaccid paralysis
Acute flaccid paralysis 		0.010 Biomarker phenotype BEFREE Desmin and HSP27, both indirectly regulate the contraction of muscle cells, were significantly downregulated as a result of EV71 infection, suggesting a link to acute flaccid paralysis. 21621020 2011
CUI: C0001430
Disease: Adenoma
Adenoma 		0.010 AlteredExpression group BEFREE Loss of IHH from Apc(HET) mice changed the composition of the adenoma stroma; cells that expressed α-smooth muscle actin or desmin were lost, along with expression of cyclooxygenase-2, and the number of vimentin-positive cells increased. 25307863 2015
CUI: C0851887
Disease: Adenoviral infections
Adenoviral infections 		0.010 AlteredExpression group BEFREE Overexpression of mutant desmin by adenoviral infection in cultured cardiomyocytes led to increased mitochondrial fission, inhibition of mitochondrial respiration, and activation of cellular toxicity. 29987122 2018
CUI: C1332199
Disease: Adult Desmoplastic Small Round Cell Tumor
Adult Desmoplastic Small Round Cell Tumor 		0.010 AlteredExpression disease BEFREE We present a 51 year old female patient with a pelvic desmoplastic small round cell tumor with an unusual immunohistochemical profile, including absence of significant cytokeratin expression, complete negativity for desmin and widespread loss of nuclear INI-1 expression (>90% of tumor cells). 25755805 2015
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.020 Biomarker disease BEFREE The intermediate filament protein synemin is present in astrocyte progenitors and glioblastoma cells but not in mature astrocytes. 22337773 2012
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.020 AlteredExpression disease BEFREE Myospryn and desmin are shown to be expressed in the brain and myospryn is shown to localize to the cytoplasm and nucleus of myoblast, neuroblastoma, and glioblastoma cell lines. 30658136 2019
CUI: C0278607
Disease: Adult Leiomyosarcoma
Adult Leiomyosarcoma 		0.010 Biomarker disease BEFREE The results confirmed IMFT positivity for smooth muscle actin, desmin and cytokeratin in 78-89% cases, resulting in potential confusion with sarcomatoid carcinoma or leiomyosarcoma. 15105807 2004
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma 		0.010 Biomarker disease BEFREE In most cases, they can be distinguished from lymphoma (leucocyte common antigen, B and T markers) and embryonal rhabdomyosarcoma (muscle specific actin, desmin). 8183732 1993
CUI: C0279070
Disease: Adult Oligodendroglioma
Adult Oligodendroglioma 		0.010 AlteredExpression disease BEFREE Unexpected expression of intermediate filament protein genes in human oligodendroglioma cell lines. 7529297 1995
CUI: C0334483
Disease: Adult rhabdomyoma
Adult rhabdomyoma 		0.010 Biomarker disease BEFREE Immunohistochemical stains performed on the cell block showed the tumor cells were desmin positive and negative for S-100 and PAX-8, supporting the diagnosis of an adult rhabdomyoma. 29131558 2018
CUI: C0279550
Disease: Adult Rhabdomyosarcoma
Adult Rhabdomyosarcoma 		0.060 AlteredExpression disease BEFREE Adult-type rhabdomyosarcoma (RMS) has been classically defined as a pleomorphic sarcoma with desmin expression occurring in adult patients. 19898221 2009
CUI: C0279550
Disease: Adult Rhabdomyosarcoma
Adult Rhabdomyosarcoma 		0.060 AlteredExpression disease BEFREE In contrast to RD cells that expressed preferentially myoid and not neurofilament proteins (NFPs) upon treatment with UDP-4, differentiated RD/TE-671 cells exhibited characteristic dendritic processes and expressed NFPs (NFP68, NFP160, and NFP200), parvalbumin (calcium-binding protein), and neuron-specific enolase, as well as a small amount of vimentin and desmin. 8780893 1996
CUI: C0279550
Disease: Adult Rhabdomyosarcoma
Adult Rhabdomyosarcoma 		0.060 Biomarker disease BEFREE Immunohistochemical positive staining with vimentin (80% of tumour cells), desmin (20%) and titin (30%) antibodies was suggestive of a rhabdomyosarcoma. 9543674 1998
CUI: C0279550
Disease: Adult Rhabdomyosarcoma
Adult Rhabdomyosarcoma 		0.060 Biomarker disease BEFREE A significant component of the tumor was composed of pleomorphic eosinophilic spindle cells in whorls and interlacing fascicles that showed a strong, sharp, and diffuse positivity for desmin, thus mimicking rhabdomyosarcoma. 22899016 2012
CUI: C0279550
Disease: Adult Rhabdomyosarcoma
Adult Rhabdomyosarcoma 		0.060 Biomarker disease BEFREE Rhabdomyosarcoma showed muscle-specific actin positivity in 4 and desmin positivity in 3 cases. 11285617 2001
CUI: C0279550
Disease: Adult Rhabdomyosarcoma
Adult Rhabdomyosarcoma 		0.060 Biomarker disease BEFREE In addition, MAbs to the cytoplasmic protein desmin, myoglobin, muscle actin (alpha and gamma) and alpha-sarcomeric actin reacted with these cell lines, SCMC-RM2 and SCMC-RM2-1 being thus identified as rhabdomyosarcoma. 2323848 1990
CUI: C0270726
Disease: Alexander Disease
Alexander Disease 		0.080 Biomarker disease BEFREE Moreover, dominant mutations in the GFAP gene, coding for glial fibrillary acidic protein (GFAP), a principal astrocytic intermediate filament protein, have been shown to lead to AD. 17043438 2006
CUI: C0270726
Disease: Alexander Disease
Alexander Disease 		0.080 GeneticVariation disease BEFREE Alexander disease (AxD) is a usually fatal astrogliopathy primarily caused by mutations in the gene encoding glial fibrillary acidic protein (GFAP), an intermediate filament protein expressed in astrocytes. 22488673 2012
CUI: C0270726
Disease: Alexander Disease
Alexander Disease 		0.080 GeneticVariation disease BEFREE Alexander disease (AxD) is a rare but fatal neurological disorder caused by mutations in the astrocyte-specific intermediate filament protein glial fibrillary acidic protein (GFAP). 16507904 2006
CUI: C0270726
Disease: Alexander Disease
Alexander Disease 		0.080 GeneticVariation disease BEFREE GFAP is the principal astrocyte intermediate filament protein and dominant mutations in the GFAP gene have been shown to lead to Alexander disease, a fatal neurodegenerative condition in humans. 15495269 2004
CUI: C0270726
Disease: Alexander Disease
Alexander Disease 		0.080 GeneticVariation disease BEFREE We have been studying the astrocytes of Alexander disease (AxD), which is caused by heterozygous mutations in the GFAP gene, which is the gene that encodes the major astrocyte intermediate filament protein. 28135564 2017
CUI: C0270726
Disease: Alexander Disease
Alexander Disease 		0.080 GeneticVariation disease BEFREE Alexander disease (AxD) is a neurodegenerative disease caused by heterozygous mutations in the GFAP gene, which encodes the major intermediate filament protein of astrocytes. 28700643 2017