SYP, synaptophysin, 6855

N. diseases: 243; N. variants: 3
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: C2919194
Disease: Sporadic olivopontocerebellar atrophy
Sporadic olivopontocerebellar atrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 3 0.010 None 1.000 1 1998 1998
CUI: C2985175
Disease: Extraventricular neurocytoma
Extraventricular neurocytoma 		disease Neoplastic Process 3 0.010 None 1.000 1 2007 2007
CUI: C3275408
Disease: MENTAL RETARDATION, X-LINKED 96
MENTAL RETARDATION, X-LINKED 96 		disease Disease or Syndrome 3 2 0.700 strong 1.000 1 2 2009 2009
CUI: C2987262
Disease: Esophageal Neuroendocrine Carcinoma
Esophageal Neuroendocrine Carcinoma 		disease Neoplastic Process 4 0.010 None 1.000 1 2018 2018
CUI: C1332562
Disease: Bladder Paraganglioma
Bladder Paraganglioma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 8 0.010 None < 0.001 1 2017 2017
CUI: C3272607
Disease: Colorectal Neuroendocrine Carcinoma
Colorectal Neuroendocrine Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 8 0.010 None 1.000 1 2019 2019
CUI: C1866282
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 6
CEROID LIPOFUSCINOSIS, NEURONAL, 6 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 9 42 0.300 None 1.000 1 2013 2013
CUI: C1622510
Disease: Neurocytoma
Neurocytoma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 10 0.040 None 0.750 4 2012 2017
CUI: C0038478
Disease: Struma Ovarii
Struma Ovarii 		disease Neoplasms Neoplastic Process 10 1 0.010 None < 0.001 1 2017 2017
CUI: C1861735
Disease: Dementia, familial Danish
Dementia, familial Danish 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases Disease or Syndrome 10 1 0.010 None 1.000 1 2013 2013
CUI: C0086648
Disease: MPS III B
MPS III B 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 13 92 0.010 None 1.000 1 2009 2009
CUI: C0878486
Disease: Arteriolosclerosis
Arteriolosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 13 2 0.010 None 1.000 1 2016 2016
CUI: C2931673
Disease: Ceroid lipofuscinosis, neuronal 1, infantile
Ceroid lipofuscinosis, neuronal 1, infantile 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 14 1 0.300 None 1.000 1 2011 2011
CUI: C3501611
Disease: Mental Retardation, X-Linked Nonsyndromic
Mental Retardation, X-Linked Nonsyndromic 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 16 2 0.300 limited 1.000 4 2009 2017
CUI: C0206719
Disease: Central Neurocytoma
Central Neurocytoma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 16 0.020 None 1.000 2 2015 2018
CUI: C1266177
Disease: Dysembryoplastic neuroepithelial tumor
Dysembryoplastic neuroepithelial tumor 		disease Neoplasms Neoplastic Process 17 2 0.010 None 1.000 1 2002 2002
CUI: C0268393
Disease: Familial Cerebral Amyloid Angiopathy
Familial Cerebral Amyloid Angiopathy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 18 0.010 None 1.000 1 1994 1994
CUI: C1510489
Disease: Cerebral Amyloid Angiopathy, Hereditary
Cerebral Amyloid Angiopathy, Hereditary 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 19 4 0.010 None 1.000 1 1994 1994
CUI: C1332200
Disease: Adult Diffuse Astrocytoma
Adult Diffuse Astrocytoma 		disease Neoplasms Neoplastic Process 21 2 0.010 None 1.000 1 2001 2001
CUI: C3899668
Disease: Childhood Diffuse Astrocytoma
Childhood Diffuse Astrocytoma 		disease Neoplasms Neoplastic Process 21 2 0.010 None 1.000 1 2001 2001
CUI: C0878681
Disease: Dent's disease
Dent's disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 23 12 0.010 None 1.000 1 1993 1993
CUI: C0031941
Disease: Pineal Gland Neoplasm
Pineal Gland Neoplasm 		disease Neoplasms; Nervous System Diseases Neoplastic Process 25 2 0.020 None 1.000 2 2003 2010
CUI: C0022541
Disease: Kearns-Sayre syndrome
Kearns-Sayre syndrome 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 29 5 0.010 None 1.000 1 1999 1999
CUI: C0751262
Disease: Adult Learning Disorders
Adult Learning Disorders 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 29 0.300 None 1.000 1 2011 2011
CUI: C0751263
Disease: Learning Disturbance
Learning Disturbance 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 29 0.300 None 1.000 1 2011 2011