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: C3160720
Disease: Cardiomyopathy, Dilated, 1u
Cardiomyopathy, Dilated, 1u 		disease Cardiovascular Diseases Disease or Syndrome 1 3 0.700 None 1.000 5 3 2006 2017
CUI: C1843014
Disease: Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Unusual Plaques
Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Unusual Plaques 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Disease or Syndrome 1 0.200 None 1.000 4 1997 2006
CUI: C1843015
Disease: Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia
Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 1 2 0.600 None 1.000 4 2 1997 2006
CUI: C0235910
Disease: Colagenosis
Colagenosis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 1 0.010 None 1.000 1 2018 2018
CUI: C4022899
Disease: Bilateral wrist flexion contracture
Bilateral wrist flexion contracture 		phenotype Anatomical Abnormality 1 1 0.100 None 1.000 1 1 2014 2014
CUI: C4015780
Disease: ALZHEIMER DISEASE, FAMILIAL, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES
ALZHEIMER DISEASE, FAMILIAL, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES 		disease Finding 1 2 0.100 None 0 2
CUI: C4015781
Disease: ALZHEIMER DISEASE, FAMILIAL, 3, WITH UNUSUAL PLAQUES
ALZHEIMER DISEASE, FAMILIAL, 3, WITH UNUSUAL PLAQUES 		disease Finding 1 2 0.100 None 0 2
CUI: C4015782
Disease: ALZHEIMER DISEASE, FAMILIAL, 3, WITH SPASTIC PARAPARESIS
ALZHEIMER DISEASE, FAMILIAL, 3, WITH SPASTIC PARAPARESIS 		disease Finding 1 1 0.100 None 0 1
CUI: C4703584
Disease: Optic ataxia
Optic ataxia 		phenotype Finding 1 0.100 None 0
CUI: C0234512
Disease: Prosopagnosia
Prosopagnosia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2 2 0.010 None 1.000 1 2017 2017
CUI: C0263006
Disease: Perifolliculitis
Perifolliculitis 		disease Disease or Syndrome 2 0.100 None 0
CUI: C4022574
Disease: Limb apraxia
Limb apraxia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Disease or Syndrome 3 1 0.010 None 1.000 1 1 2019 2019
CUI: C4024935
Disease: Subcortical dementia
Subcortical dementia 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3 2 0.010 None 1.000 1 1 2004 2004
CUI: C0474420
Disease: Inappropriate sexual behavior
Inappropriate sexual behavior 		phenotype Finding 3 1 0.100 None 0
CUI: C4477086
Disease: Cotton wool plaques
Cotton wool plaques 		phenotype Pathological Conditions, Signs and Symptoms Acquired Abnormality 4 0.100 None 1.000 12 2001 2013
CUI: C4023521
Disease: Chronic furunculosis
Chronic furunculosis 		disease Disease or Syndrome 4 0.100 None 0
CUI: C1840560
Disease: Hidradenitis suppurativa, familial
Hidradenitis suppurativa, familial 		disease Infections; Skin and Connective Tissue Diseases Disease or Syndrome 5 0.310 None 1.000 2 2010 2014
CUI: C0409336
Disease: Flexion contracture-shoulder
Flexion contracture-shoulder 		disease Acquired Abnormality 5 1 0.100 None 1.000 1 1 2014 2014
CUI: C0701811
Disease: Poor short-term memory
Poor short-term memory 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 5 1 0.010 None < 0.001 1 2018 2018
CUI: C0917814
Disease: Aphasia, Expressive
Aphasia, Expressive 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 5 1 0.010 None 1.000 1 1 2015 2015
CUI: C2676500
Disease: COWDEN-LIKE SYNDROME (disorder)
COWDEN-LIKE SYNDROME (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases Disease or Syndrome 5 0.010 None 1.000 1 2012 2012
CUI: C3840049
Disease: Dysexecutive syndrome
Dysexecutive syndrome 		disease Mental Disorders Mental or Behavioral Dysfunction 5 2 0.010 None 1.000 1 2 2017 2017
CUI: C0338582
Disease: Sporadic Cerebral Amyloid Angiopathy
Sporadic Cerebral Amyloid Angiopathy 		disease Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 6 0.010 None 1.000 1 1997 1997
CUI: C1853766
Disease: Pontocerebellar atrophy
Pontocerebellar atrophy 		phenotype Finding 6 1 0.100 None 1.000 1 1 2014 2014