PSEN2, presenilin 2, 5664

N. diseases: 146; N. variants: 32
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: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2841 327 0.010 None 1.000 1 2000 2000
CUI: C0521158
Disease: Recurrent tumor
Recurrent tumor
phenotype Neoplastic Process 735 33 0.010 None 1.000 1 2001 2001
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 1263 112 0.010 None 1.000 1 1 2017 2017
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4502 1082 0.010 None 1.000 1 1995 1995
Transitional cell carcinoma of bladder
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 333 158 0.010 None 1.000 1 2001 2001
CUI: C0278601
Disease: Inflammatory Breast Carcinoma
Inflammatory Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 183 0.010 None 1.000 1 1990 1990
CUI: C0271650
Disease: Impaired glucose tolerance
Impaired glucose tolerance
phenotype Nutritional and Metabolic Diseases Disease or Syndrome 596 81 0.010 None < 0.001 1 1 1999 1999
CUI: C0238033
Disease: Carcinoma of Male Breast
Carcinoma of Male Breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 87 38 0.010 None 1.000 1 1993 1993
CUI: C0236053
Disease: Mucosal ulcer
Mucosal ulcer
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 15 0.010 None 1.000 1 1991 1991
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 910 121 0.010 None 1.000 1 2 2009 2009
CUI: C0151908
Disease: Dry skin
Dry skin
phenotype Skin and Connective Tissue Diseases Sign or Symptom 159 12 0.010 None 1.000 1 2015 2015
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
group Nervous System Diseases Disease or Syndrome 1515 85 0.010 None 1.000 1 1 2012 2012
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy
disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 176 52 0.010 None 1.000 1 2015 2015
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 234 368 0.010 None 1.000 1 2017 2017
CUI: C0032927
Disease: Precancerous Conditions
Precancerous Conditions
group Neoplasms Neoplastic Process 471 18 0.010 None 1.000 1 1995 1995
CUI: C0030920
Disease: Peptic Ulcer
Peptic Ulcer
disease Digestive System Diseases Disease or Syndrome 150 25 0.010 None 1.000 1 1993 1993
CUI: C0030305
Disease: Pancreatitis
Pancreatitis
disease Digestive System Diseases Disease or Syndrome 502 80 0.010 None 1.000 1 1999 1999
CUI: C0030193
Disease: Pain
Pain
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1554 196 0.010 None 1.000 1 2017 2017
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4388 1168 0.010 None 1.000 1 1995 1995
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 3720 652 0.010 None 1.000 1 2000 2000
CUI: C0751071
Disease: Familial Dementia
Familial Dementia
disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 18 5 0.010 None 1.000 1 2014 2014
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 669 77 0.010 None 1.000 1 1990 1990
CUI: C3887551
Disease: Memory dysfunction
Memory dysfunction
disease Mental Disorders Mental or Behavioral Dysfunction 70 3 0.010 None 1.000 1 2011 2011
CUI: C3811918
Disease: GRN-related frontotemporal dementia
GRN-related frontotemporal dementia
disease Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders Disease or Syndrome 112 20 0.010 None 1.000 1 2013 2013
CUI: C3810041
Disease: ALZHEIMER DISEASE 18
ALZHEIMER DISEASE 18
disease Disease or Syndrome 2 2 0.010 None 1.000 1 1990 1990