LMOD1, leiomodin 1, 25802

N. diseases: 49; N. variants: 10
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		0.100 Biomarker phenotype HPO
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.100 Biomarker disease HPO
CUI: C0018809
Disease: Heart Neoplasm
Heart Neoplasm 		0.100 Biomarker disease HPO
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		0.100 Biomarker phenotype HPO
CUI: C0027498
Disease: Nausea and vomiting
Nausea and vomiting 		0.100 Biomarker phenotype HPO
CUI: C0221210
Disease: Congenital malrotation of intestine
Congenital malrotation of intestine 		0.100 Biomarker disease HPO
CUI: C0232475
Disease: Decreased peristalsis
Decreased peristalsis 		0.100 Biomarker phenotype HPO
CUI: C0243026
Disease: Sepsis
Sepsis 		0.100 Biomarker disease HPO
CUI: C0266200
Disease: Microcolon
Microcolon 		0.100 Biomarker disease HPO
CUI: C0521620
Disease: Dilatation of ureter
Dilatation of ureter 		0.100 Biomarker disease HPO
CUI: C0795690
Disease: Congenital omphalocele
Congenital omphalocele 		0.100 Biomarker disease HPO
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos 		0.100 Biomarker disease HPO
CUI: C1855311
Disease: Megacystis
Megacystis 		0.100 Biomarker phenotype HPO
CUI: C1858430
Disease: Death in infancy
Death in infancy 		0.100 Biomarker phenotype HPO
CUI: C3714581
Disease: Multicystic Dysplastic Kidney
Multicystic Dysplastic Kidney 		0.100 Biomarker disease HPO
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.010 Biomarker disease BEFREE Antibodies to glutamic acid decarboxylase, previously known as the 64 kD antigen, appear to be more predictive of Type 1 (insulin-dependent) diabetes mellitus in Caucasoids than other autoantibodies to islet cell antigens. 1360432 1992
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy 		0.010 Biomarker disease BEFREE Third, we probed PPND brain by Western blots using some of the same anti-tau antibodies to reveal 2 tau immunobands with molecular weights of 69 kD and 64 kD in gray and white matter extracts, as reported for both PSP and CBD. 9630238 1998
CUI: C3887938
Disease: Deuteranomaly
Deuteranomaly 		0.010 Biomarker disease BEFREE Third, we probed PPND brain by Western blots using some of the same anti-tau antibodies to reveal 2 tau immunobands with molecular weights of 69 kD and 64 kD in gray and white matter extracts, as reported for both PSP and CBD. 9630238 1998
CUI: C0020550
Disease: Hyperthyroidism
Hyperthyroidism 		0.010 AlteredExpression disease BEFREE The 64kD human autoantigen D1 is expressed in slow fibers of extraocular and sternothyroid muscles as a component of myofibrils, and is not upregulated in conditions of hyperthyroidism. 10520227 1999
CUI: C0020550
Disease: Hyperthyroidism
Hyperthyroidism 		0.010 AlteredExpression disease LHGDN The 64kD human autoantigen D1 is expressed in slow fibers of extraocular and sternothyroid muscles as a component of myofibrils, and is not upregulated in conditions of hyperthyroidism. 10520227 1999
CUI: C0018213
Disease: Graves Disease
Graves Disease 		0.010 Biomarker disease BEFREE The 64-kDa autoantigen D1 or 1D, first identified as a potential autoantigen in Graves' disease, is similar to the tropomodulin (Tmod) family of actin filament pointed end-capping proteins. 11318603 2001
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		0.010 GeneticVariation disease BEFREE Tissue antigens with these characteristics were detected with immunoglobulin (Ig)G or F(ab')(2) fragments from the sera of sarcoidosis patients in 9 of 12 (75%) sarcoidosis tissues (150-160, 80, or 60-64 kD) but only 3 of 22 (14%) control tissues (all 62-64 kD; P = 0.0006). 15753209 2005
CUI: C0014175
Disease: Endometriosis
Endometriosis 		0.300 Biomarker disease CTD_human Unique transcriptome, pathways, and networks in the human endometrial fibroblast response to progesterone in endometriosis. 20864642 2011
CUI: C0269102
Disease: Endometrioma
Endometrioma 		0.300 Biomarker disease CTD_human Unique transcriptome, pathways, and networks in the human endometrial fibroblast response to progesterone in endometriosis. 20864642 2011
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.100 GeneticVariation phenotype GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012