HTRA1, HtrA serine peptidase 1, 5654

N. diseases: 164; N. variants: 45
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2
disease Disease or Syndrome 1 12 0.600 None 1.000 3 12 2014 2015
CUI: C1456582
Disease: Vision Impairment and Blindness
Vision Impairment and Blindness
disease Disease or Syndrome 1 1 0.010 None 1.000 1 1 2015 2015
CUI: C1720180
Disease: Confluent drusen
Confluent drusen
disease Disease or Syndrome 1 1 0.010 None 1.000 1 1 2007 2007
Macular Degeneration, Age-Related, 7
disease Eye Diseases Disease or Syndrome 1 1 0.400 None 0 1
MACULAR DEGENERATION, AGE-RELATED, NEOVASCULAR TYPE, SUSCEPTIBILITY TO
disease Finding 1 1 0.100 None 0 1
CUI: C4293701
Disease: Status cribrosum
Status cribrosum
disease Disease or Syndrome 1 0.100 None 0
CUI: C1449626
Disease: CADASILM
CADASILM
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 2 0.300 None 0
CUI: C4024918
Disease: Recurrent subcortical infarcts
Recurrent subcortical infarcts
disease Disease or Syndrome 2 1 0.100 None 0
Diffuse demyelination of the cerebral white matter
disease Anatomical Abnormality 2 0.100 None 0
CUI: C0012814
Disease: Colonic Diverticulitis
Colonic Diverticulitis
disease Digestive System Diseases Disease or Syndrome 3 0.010 None 1.000 1 2017 2017
Arteriosclerosis of small cerebral arteries
disease Cardiovascular Diseases Disease or Syndrome 3 0.100 None 0
CUI: C1853618
Disease: Perivascular spaces
Perivascular spaces
phenotype Finding 5 0.100 None 0
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 7 11 0.800 None 0.962 26 11 2002 2019
CUI: C1720251
Disease: Retinal pigment epithelium atrophy
Retinal pigment epithelium atrophy
disease Acquired Abnormality 7 2 0.010 None < 0.001 1 2014 2014
Butterfly-shaped pigmentary macular dystrophy
disease Disease or Syndrome 7 0.010 None 1.000 1 2012 2012
CUI: C1838579
Disease: Pseudobulbar signs
Pseudobulbar signs
phenotype Sign or Symptom 7 0.100 None 0
CUI: C0035312
Disease: Retinal Drusen
Retinal Drusen
disease Eye Diseases Disease or Syndrome 9 0.010 None 1.000 1 2012 2012
CUI: C0596298
Disease: Cerebrovascular Occlusion
Cerebrovascular Occlusion
disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 9 0.010 None 1.000 1 2017 2017
CUI: C2609282
Disease: Reticular pseudodrusen
Reticular pseudodrusen
disease Disease or Syndrome 10 10 0.010 None 1.000 1 1 2016 2016
CUI: C1838578
Disease: Progressive encephalopathy
Progressive encephalopathy
phenotype Nervous System Diseases Finding 14 5 0.100 None 0
Snowflake vitreoretinal degeneration
disease Eye Diseases Disease or Syndrome 15 1 0.010 None 1.000 1 2018 2018
Hyperintensity of cerebral white matter on MRI
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 15 1 0.100 None 0
CUI: C0747479
Disease: Periodontal infection
Periodontal infection
disease Disease or Syndrome 17 0.010 None 1.000 1 2014 2014
LATE-ONSET RETINAL DEGENERATION (disorder)
disease Eye Diseases Disease or Syndrome 17 3 0.010 None 1.000 1 2019 2019
Wet age-related macular degeneration
disease Disease or Syndrome 20 2 0.040 None 1.000 4 2006 2012