Source: HPO

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C0338462
Disease: Semantic Dementia
Semantic Dementia 		disease 0.600 None 1.000 0 0 2000 2000
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C0869474
Disease: Dyscalculia
Dyscalculia 		disease 0.100 None 0 0
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C0919974
Disease: Abulia
Abulia 		disease 0.100 None 0 0
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C0948163
Disease: Leukoaraiosis
Leukoaraiosis 		phenotype 0.100 None 0 0
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C0973461
Disease: Dysphasia
Dysphasia 		disease 0.100 None 0 0
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C1280433
Disease: Lipoatrophy
Lipoatrophy 		disease 0.100 None 0 0
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C1836696
Disease: Lower limb hyperreflexia
Lower limb hyperreflexia 		phenotype 0.100 None 0 0
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C1836940
Disease: Thickened nuchal skin fold
Thickened nuchal skin fold 		phenotype 0.100 None 0 0
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C1838319
Disease: Primitive reflexes (palmomental, snout, glabellar)
Primitive reflexes (palmomental, snout, glabellar) 		phenotype 0.100 None 0 0
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C1838320
Disease: Hyperorality
Hyperorality 		phenotype 0.100 None 0 0
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C1838681
Disease: Rapidly progressive
Rapidly progressive 		phenotype 0.100 None 0 0
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C1839042
Disease: Upper motor neuron dysfunction
Upper motor neuron dysfunction 		phenotype 0.100 None 0 0
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C1848207
Disease: Poor speech
Poor speech 		phenotype 0.100 None 0 0
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C0575081
Disease: Gait abnormality
Gait abnormality 		group 0.100 None 0 0
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C0575059
Disease: Spastic tetraparesis
Spastic tetraparesis 		disease 0.100 None 0 0
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C0422895
Disease: Primitive reflex
Primitive reflex 		phenotype 0.100 None 0 0
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C0424290
Disease: Compulsive hoarding
Compulsive hoarding 		disease 0.100 None 0 0
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C0424296
Disease: Social disinhibition
Social disinhibition 		disease 0.100 None 0 0
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C0424304
Disease: Inappropriate laughter
Inappropriate laughter 		phenotype 0.100 None 0 0
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C0427515
Disease: Neutrophil abnormality
Neutrophil abnormality 		phenotype 0.100 None 0 0
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C0474420
Disease: Inappropriate sexual behavior
Inappropriate sexual behavior 		phenotype 0.100 None 0 0
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C0476254
Disease: Dyslexia
Dyslexia 		disease 0.100 None 0 0
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		phenotype 0.100 None 0 0
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		disease 0.100 None 0 0
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C0497327
Disease: Dementia
Dementia 		disease 0.200 None 0.983 0 0 1990 2019