PSEN1, presenilin 1, 5663

N. diseases: 369; N. variants: 155
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: C3151038
Disease: ACNE INVERSA, FAMILIAL, 3
ACNE INVERSA, FAMILIAL, 3
disease Disease or Syndrome 1 15 0.400 None 1.000 62 15 1995 2018
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 1075 276 0.100 None 1.000 37 6 1997 2019
CUI: C0233401
Disease: Psychiatric symptom
Psychiatric symptom
phenotype Sign or Symptom 95 12 0.020 None 1.000 2 2 2004 2016
CUI: C0234133
Disease: Extrapyramidal sign
Extrapyramidal sign
phenotype Sign or Symptom 116 7 0.120 None 1.000 2 1 2010 2017
CUI: C0338460
Disease: Argyrophilic grain disease
Argyrophilic grain disease
disease Disease or Syndrome 18 7 0.020 None 1.000 2 2 2009 2013
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
disease Disease or Syndrome 321 67 0.110 None 1.000 2 3 2014 2017
CUI: C0742038
Disease: Cerebellar signs
Cerebellar signs
phenotype Sign or Symptom 24 5 0.020 None 1.000 2 2016 2016
CUI: C0238651
Disease: Ankle clonus
Ankle clonus
phenotype Finding 32 5 0.100 None 1.000 1 1 2014 2014
CUI: C0240379
Disease: Open mouth (finding)
Open mouth (finding)
phenotype Finding 96 11 0.100 None 1.000 1 1 2014 2014
CUI: C0349081
Disease: Dementia in Parkinson's disease
Dementia in Parkinson's disease
disease Disease or Syndrome 9 2 0.010 None 1.000 1 2018 2018
CUI: C0409336
Disease: Flexion contracture-shoulder
Flexion contracture-shoulder
disease Acquired Abnormality 5 1 0.100 None 1.000 1 1 2014 2014
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow
disease Acquired Abnormality 73 14 0.100 None 1.000 1 1 2014 2014
CUI: C0426980
Disease: Motor symptoms
Motor symptoms
phenotype Sign or Symptom 100 15 0.010 None 1.000 1 2019 2019
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.010 None 1.000 1 2011 2011
CUI: C0596887
Disease: mathematical ability
mathematical ability
phenotype Mental Process 854 2127 0.100 None 1.000 1 1 2018 2018
CUI: C0677932
Disease: Progressive Neoplastic Disease
Progressive Neoplastic Disease
phenotype Neoplastic Process 384 40 0.010 None 1.000 1 2006 2006
CUI: C0854193
Disease: Cognitive deterioration
Cognitive deterioration
disease Mental or Behavioral Dysfunction 39 3 0.010 None 1.000 1 2006 2006
CUI: C0860603
Disease: Anxiety symptoms
Anxiety symptoms
phenotype Sign or Symptom 110 10 0.010 None 1.000 1 2020 2020
CUI: C0871189
Disease: Psychotic symptom
Psychotic symptom
phenotype Sign or Symptom 86 21 0.010 None < 0.001 1 2019 2019
CUI: C1411966
Disease: Clostridium; difficile (disorder)
Clostridium; difficile (disorder)
disease Disease or Syndrome 106 0.010 None 1.000 1 2017 2017
CUI: C1836479
Disease: Saccadic smooth pursuit
Saccadic smooth pursuit
phenotype Finding 22 5 0.100 None 1.000 1 1 2014 2014
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border
phenotype Finding 95 15 0.100 None 1.000 1 1 2014 2014
CUI: C1836843
Disease: Progressive inability to walk
Progressive inability to walk
phenotype Finding 10 3 0.100 None 1.000 1 1 2014 2014
CUI: C1837108
Disease: Decreased muscle mass
Decreased muscle mass
phenotype Finding 65 12 0.100 None 1.000 1 1 2014 2014
CUI: C1837731
Disease: Overfolded helix
Overfolded helix
phenotype Finding 46 7 0.100 None 1.000 1 1 2014 2014