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: C1845274
Disease: Abnormal conjugate eye movement
Abnormal conjugate eye movement 		phenotype Finding 7 5 0.100 None 1.000 1 1 2014 2014
CUI: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear 		disease Anatomical Abnormality 95 8 0.100 None 1.000 1 1 2014 2014
CUI: C1853766
Disease: Pontocerebellar atrophy
Pontocerebellar atrophy 		phenotype Finding 6 1 0.100 None 1.000 1 1 2014 2014
CUI: C1857304
Disease: Flexion contracture of finger
Flexion contracture of finger 		phenotype Finding 17 4 0.100 None 1.000 1 1 2014 2014
CUI: C1867773
Disease: CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1
CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1 		disease Disease or Syndrome 10 1 0.010 None 1.000 1 2002 2002
CUI: C2826323
Disease: Refractory Cytopenia of Childhood
Refractory Cytopenia of Childhood 		disease Neoplastic Process 264 3 0.010 None 1.000 1 2002 2002
CUI: C3539781
Disease: Progressive cGVHD
Progressive cGVHD 		disease Disease or Syndrome 384 40 0.010 None 1.000 1 2006 2006
CUI: C4020732
Disease: Mitochondrial abnormalities
Mitochondrial abnormalities 		disease Anatomical Abnormality 83 20 0.010 None 1.000 1 1 2019 2019
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: C4275079
Disease: Posterior cortical atrophy syndrome
Posterior cortical atrophy syndrome 		disease Disease or Syndrome 12 8 0.010 None 1.000 1 1 2013 2013
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy 		disease Disease or Syndrome 271 13 0.110 None 1.000 1 1 2013 2013
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		phenotype Finding 218 11 0.100 None 0
CUI: C0085400
Disease: Neurofibrillary degeneration (morphologic abnormality)
Neurofibrillary degeneration (morphologic abnormality) 		phenotype Cell or Molecular Dysfunction 21 0.100 None 0
CUI: C0234410
Disease: Physiologic disinhibition
Physiologic disinhibition 		phenotype Organ or Tissue Function 23 0.100 None 0
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		phenotype Finding 228 43 0.100 None 0
CUI: C0263006
Disease: Perifolliculitis
Perifolliculitis 		disease Disease or Syndrome 2 0.100 None 0
CUI: C0422895
Disease: Primitive reflex
Primitive reflex 		phenotype Finding 14 0.100 None 0
CUI: C0424304
Disease: Inappropriate laughter
Inappropriate laughter 		phenotype Finding 7 2 0.100 None 0
CUI: C0427515
Disease: Neutrophil abnormality
Neutrophil abnormality 		phenotype Finding 74 1 0.100 None 0
CUI: C0474420
Disease: Inappropriate sexual behavior
Inappropriate sexual behavior 		phenotype Finding 3 1 0.100 None 0
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		phenotype Finding 130 12 0.100 None 0
CUI: C0919974
Disease: Abulia
Abulia 		disease Mental or Behavioral Dysfunction 9 0.100 None 0
CUI: C1836940
Disease: Thickened nuchal skin fold
Thickened nuchal skin fold 		phenotype Finding 58 4 0.100 None 0
CUI: C1838681
Disease: Rapidly progressive
Rapidly progressive 		phenotype Finding 38 0.100 None 0
CUI: C1839042
Disease: Upper motor neuron dysfunction
Upper motor neuron dysfunction 		phenotype Pathologic Function 16 1 0.100 None 0