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.
CUI: C1504336
Disease: Polypoidal choroidal vasculopathy
Polypoidal choroidal vasculopathy 		disease Disease or Syndrome 56 67 0.100 None 0.947 19 6 2007 2017
CUI: C1260959
Disease: Drusen
Drusen 		disease Disease or Syndrome 57 18 0.090 None 1.000 9 4 2006 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.040 None 1.000 4 2010 2015
CUI: C3888896
Disease: Wet age-related macular degeneration
Wet age-related macular degeneration 		disease Disease or Syndrome 20 2 0.040 None 1.000 4 2006 2012
CUI: C4225211
Disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2
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: C0871470
Disease: Systolic Pressure
Systolic Pressure 		phenotype Clinical Attribute 843 1931 0.100 None 1.000 2 2 2018 2019
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.020 None 1.000 2 2017 2018
CUI: C0028259
Disease: Nodule
Nodule 		phenotype Acquired Abnormality 278 19 0.010 None 1.000 1 2018 2018
CUI: C0042834
Disease: Vital capacity
Vital capacity 		phenotype Clinical Attribute 430 746 0.100 None 1.000 1 1 2019 2019
CUI: C0747479
Disease: Periodontal infection
Periodontal infection 		disease Disease or Syndrome 17 0.010 None 1.000 1 2014 2014
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: C1608408
Disease: Malignant transformation
Malignant transformation 		phenotype Neoplastic Process 1027 20 0.010 None 1.000 1 2012 2012
CUI: C1720180
Disease: Confluent drusen
Confluent drusen 		disease Disease or Syndrome 1 1 0.010 None 1.000 1 1 2007 2007
CUI: C1720251
Disease: Retinal pigment epithelium atrophy
Retinal pigment epithelium atrophy 		disease Acquired Abnormality 7 2 0.010 None < 0.001 1 2014 2014
CUI: C2609282
Disease: Reticular pseudodrusen
Reticular pseudodrusen 		disease Disease or Syndrome 10 10 0.010 None 1.000 1 1 2016 2016
CUI: C3160887
Disease: Node-positive breast cancer
Node-positive breast cancer 		disease Neoplastic Process 40 3 0.010 None 1.000 1 2013 2013
CUI: C4087504
Disease: Peritoneal dissemination
Peritoneal dissemination 		disease Neoplastic Process 170 0.010 None 1.000 1 2010 2010
CUI: C4511237
Disease: Butterfly-shaped pigmentary macular dystrophy
Butterfly-shaped pigmentary macular dystrophy 		disease Disease or Syndrome 7 0.010 None 1.000 1 2012 2012
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		disease Neoplastic Process 3669 502 0.010 None 1.000 1 2017 2017
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		phenotype Finding 218 11 0.100 None 0
CUI: C0234133
Disease: Extrapyramidal sign
Extrapyramidal sign 		phenotype Sign or Symptom 116 7 0.100 None 0
CUI: C1838579
Disease: Pseudobulbar signs
Pseudobulbar signs 		phenotype Sign or Symptom 7 0.100 None 0
CUI: C1853618
Disease: Perivascular spaces
Perivascular spaces 		phenotype Finding 5 0.100 None 0
CUI: C1857814
Disease: MACULAR DEGENERATION, AGE-RELATED, NEOVASCULAR TYPE, SUSCEPTIBILITY TO
MACULAR DEGENERATION, AGE-RELATED, NEOVASCULAR TYPE, SUSCEPTIBILITY TO 		disease Finding 1 1 0.100 None 0 1
CUI: C4024918
Disease: Recurrent subcortical infarcts
Recurrent subcortical infarcts 		disease Disease or Syndrome 2 1 0.100 None 0