HPCA, hippocalcin, 3208

N. diseases: 24; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1857093
Disease: DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE (disorder)
DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE (disorder) 		0.700 Biomarker disease CTD_human
CUI: C1857093
Disease: DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE (disorder)
DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE (disorder) 		0.700 CausalMutation disease CLINVAR
CUI: C0013423
Disease: Dystonia Musculorum Deformans
Dystonia Musculorum Deformans 		0.110 Biomarker disease HPO
CUI: C0005747
Disease: Blepharospasm
Blepharospasm 		0.100 Biomarker disease HPO
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		0.100 Biomarker group HPO
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.100 Biomarker disease HPO
CUI: C0040485
Disease: Torticollis
Torticollis 		0.100 Biomarker phenotype HPO
CUI: C0040822
Disease: Tremor
Tremor 		0.100 Biomarker phenotype HPO
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		0.100 Biomarker phenotype HPO
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		0.100 Biomarker phenotype HPO
CUI: C0751093
Disease: Dystonia, Limb
Dystonia, Limb 		0.100 Biomarker phenotype HPO
CUI: C1848954
Disease: Generalized dystonia
Generalized dystonia 		0.100 Biomarker phenotype HPO
CUI: C1854494
Disease: Slow progression
Slow progression 		0.100 Biomarker phenotype HPO
CUI: C3888090
Disease: Early onset torsion dystonia
Early onset torsion dystonia 		0.020 GeneticVariation disease BEFREE No positive linkage studies have as yet been reported for autosomal recessive TD (DYT2) and in several other large families with various types of dominantly inherited TD (DYT4). 12194383 1999
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.010 Biomarker phenotype BEFREE Transfection of primary human prostate tumor cells (i.e., HPCA-10a, 10b, 10c, and 10d lines) with the transforming growth factor (TGF)-beta1 gene stimulated anchorage-independent growth and promoted tumor growth, angiogenesis, and metastasis after orthotopic implantation in severe combined immunodeficiency mice. 10100726 1999
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 Biomarker group BEFREE Transfection of primary human prostate tumor cells (i.e., HPCA-10a, 10b, 10c, and 10d lines) with the transforming growth factor (TGF)-beta1 gene stimulated anchorage-independent growth and promoted tumor growth, angiogenesis, and metastasis after orthotopic implantation in severe combined immunodeficiency mice. 10100726 1999
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		0.010 Biomarker disease BEFREE Transfection of primary human prostate tumor cells (i.e., HPCA-10a, 10b, 10c, and 10d lines) with the transforming growth factor (TGF)-beta1 gene stimulated anchorage-independent growth and promoted tumor growth, angiogenesis, and metastasis after orthotopic implantation in severe combined immunodeficiency mice. 10100726 1999
CUI: C0013423
Disease: Dystonia Musculorum Deformans
Dystonia Musculorum Deformans 		0.110 Biomarker disease BEFREE Autosomal recessive, DYT2-like primary torsion dystonia: a new family. 14694054 2003
CUI: C3888090
Disease: Early onset torsion dystonia
Early onset torsion dystonia 		0.020 Biomarker disease BEFREE Autosomal recessive, DYT2-like primary torsion dystonia: a new family. 14694054 2003
CUI: C0013421
Disease: Dystonia
Dystonia 		0.070 GeneticVariation phenotype BEFREE This report supports the existence of a generalized type of dystonia with autosomal recessive inheritance (DYT2). 15390074 2005
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders 		0.070 GeneticVariation group BEFREE This report supports the existence of a generalized type of dystonia with autosomal recessive inheritance (DYT2). 15390074 2005
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		0.010 AlteredExpression disease BEFREE Likewise, expression of hippocalcin together with interactor proteins including the neuronal apoptosis inhibitory protein did not increase the survival of striatal cells in cellular models of HD. 19686238 2009
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 AlteredExpression disease BEFREE We found that hippocalcin levels are increased in human AD brain and in Aβ plaque-forming APP23 transgenic mice compared to controls. 22542901 2012
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 AlteredExpression disease BEFREE Molecular profiling demonstrates that SAC shows activation of distinct signaling pathways and that immunohistochemical fascin1 and hippocalcin expression can be reliably used for its differentiation from other CRC subtypes. 22696308 2013
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 GeneticVariation phenotype BEFREE Microarray data showed a higher representation of morphogenesis-, hypoxia-, cytoskeleton- and vesicle transport-related functions and also an overexpression of fascin1 (actin-bundling protein associated with invasion) and the antiapoptotic gene hippocalcin in SAC all of which were validated both by quantitative real-time PCR (qPCR) and immunohistochemistry. 22696308 2013