HTRA1, HtrA serine peptidase 1, 5654

N. diseases: 164; N. variants: 45
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		0.100 Biomarker phenotype HPO
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.100 Biomarker phenotype HPO
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		0.100 Biomarker phenotype HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.100 Biomarker phenotype HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0042024
Disease: Urinary Incontinence
Urinary Incontinence 		0.100 Biomarker phenotype HPO
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		0.100 Biomarker phenotype HPO
CUI: C0234133
Disease: Extrapyramidal sign
Extrapyramidal sign 		0.100 Biomarker phenotype HPO
CUI: C0240735
Disease: Personality Change
Personality Change 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0575081
Disease: Gait abnormality
Gait abnormality 		0.100 Biomarker group HPO
CUI: C1838578
Disease: Progressive encephalopathy
Progressive encephalopathy 		0.100 Biomarker phenotype HPO
CUI: C1838579
Disease: Pseudobulbar signs
Pseudobulbar signs 		0.100 Biomarker phenotype HPO
CUI: C1853618
Disease: Perivascular spaces
Perivascular spaces 		0.100 Biomarker phenotype HPO
CUI: C1857814
Disease: MACULAR DEGENERATION, AGE-RELATED, NEOVASCULAR TYPE, SUSCEPTIBILITY TO
MACULAR DEGENERATION, AGE-RELATED, NEOVASCULAR TYPE, SUSCEPTIBILITY TO 		0.100 SusceptibilityMutation disease CLINVAR
CUI: C2938912
Disease: Hyperintensity of cerebral white matter on MRI
Hyperintensity of cerebral white matter on MRI 		0.100 Biomarker phenotype HPO
CUI: C4024918
Disease: Recurrent subcortical infarcts
Recurrent subcortical infarcts 		0.100 Biomarker disease HPO
CUI: C4024923
Disease: Diffuse white matter abnormalities
Diffuse white matter abnormalities 		0.100 Biomarker disease HPO
CUI: C4024930
Disease: Diffuse demyelination of the cerebral white matter
Diffuse demyelination of the cerebral white matter 		0.100 Biomarker disease HPO
CUI: C4025270
Disease: Arteriosclerosis of small cerebral arteries
Arteriosclerosis of small cerebral arteries 		0.100 Biomarker disease HPO
CUI: C4293701
Disease: Status cribrosum
Status cribrosum 		0.100 Biomarker disease HPO
CUI: C4551915
Disease: Gait Disturbance, CTCAE
Gait Disturbance, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C1838577
Disease: Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 		0.800 CausalMutation disease CLINVAR Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy. 11889251 2002
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.040 AlteredExpression phenotype BEFREE A polyclonal anti-HtrA1 serum demonstrated a significantly higher expression in primary melanomas when compared to unrelated metastatic lesions in a human melanoma tissue array, and down-modulation of HtrA1 expression in autologous lymph node melanoma metastases in seven out of 11 cases examined. 12242667 2002
CUI: C0686619
Disease: Secondary malignant neoplasm of lymph node
Secondary malignant neoplasm of lymph node 		0.030 AlteredExpression disease BEFREE Differential gene expression of cell lines derived from a malignant melanoma or its autologous lymph node metastasis using cDNA arrays indicated down-regulation of PRSS11, a gene encoding the serine protease HtrA1, a homolog of the Escherichia coli protease HtrA, in the metastatic line. 12242667 2002