SYT1, synaptotagmin 1, 6857

N. diseases: 460; N. variants: 15
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: C0029121
Disease: Oppositional Defiant Disorder
Oppositional Defiant Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 27 9 0.010 None 1.000 1 1 2018 2018
CUI: C0032027
Disease: Pityriasis Rubra Pilaris
Pityriasis Rubra Pilaris 		disease Skin and Connective Tissue Diseases Disease or Syndrome 32 2 0.020 None 1.000 2 2012 2018
CUI: C1332199
Disease: Adult Desmoplastic Small Round Cell Tumor
Adult Desmoplastic Small Round Cell Tumor 		disease Neoplasms Neoplastic Process 32 0.020 None 1.000 2 1997 2016
CUI: C1332966
Disease: Childhood Desmoplastic Small Round Cell Tumor
Childhood Desmoplastic Small Round Cell Tumor 		disease Neoplasms Neoplastic Process 32 0.020 None 1.000 2 1997 2016
CUI: C1279296
Disease: Chronic leukemia (category)
Chronic leukemia (category) 		disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 32 0.010 None 1.000 1 2002 2002
CUI: C3539168
Disease: PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP A
PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP A 		disease Disease or Syndrome 34 3 0.010 None 1.000 1 2017 2017
CUI: C0027070
Disease: Myoepithelioma
Myoepithelioma 		disease Neoplasms Neoplastic Process 36 0.010 None 1.000 1 2017 2017
CUI: C0002438
Disease: Amebiasis
Amebiasis 		disease Infections Disease or Syndrome 37 2 0.010 None 1.000 1 1998 1998
CUI: C0022972
Disease: Lambert-Eaton Myasthenic Syndrome
Lambert-Eaton Myasthenic Syndrome 		disease Neoplasms; Immune System Diseases; Nervous System Diseases Disease or Syndrome 37 1 0.010 None 1.000 1 2019 2019
CUI: C1095979
Disease: Progressive multiple sclerosis
Progressive multiple sclerosis 		disease Disease or Syndrome 37 0.010 None 1.000 1 2018 2018
CUI: C0035112
Disease: Reoviridae Infections
Reoviridae Infections 		group Infections Disease or Syndrome 38 0.010 None 1.000 1 2017 2017
CUI: C0272302
Disease: Gray Platelet Syndrome
Gray Platelet Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 38 14 0.010 None 1.000 1 2017 2017
CUI: C2919828
Disease: Chronic ulcerative colitis
Chronic ulcerative colitis 		disease Digestive System Diseases Disease or Syndrome 40 0.010 None 1.000 1 2017 2017
CUI: C0281508
Disease: Desmoplastic Small Round Cell Tumor
Desmoplastic Small Round Cell Tumor 		disease Neoplasms Neoplastic Process 43 0.020 None 1.000 2 1997 2016
CUI: C0014179
Disease: Endometritis
Endometritis 		disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 46 2 0.010 None 1.000 1 2017 2017
CUI: C0035288
Disease: Reticuloendotheliosis, X-linked
Reticuloendotheliosis, X-linked 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Neoplastic Process 48 1 0.020 None 1.000 2 2010 2014
CUI: C0013370
Disease: Amebic colitis
Amebic colitis 		disease Digestive System Diseases; Infections Disease or Syndrome 49 1 0.010 None 1.000 1 1998 1998
CUI: C0019101
Disease: Hemorrhagic Fever with Renal Syndrome
Hemorrhagic Fever with Renal Syndrome 		disease Infections Disease or Syndrome 51 1 0.010 None 1.000 1 2009 2009
CUI: C1262048
Disease: Glial scar
Glial scar 		phenotype Acquired Abnormality 51 0.010 None 1.000 1 2017 2017
CUI: C1257763
Disease: Overnutrition
Overnutrition 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 54 0.010 None 1.000 1 2017 2017
CUI: C1266050
Disease: Poorly Differentiated Thyroid Carcinoma
Poorly Differentiated Thyroid Carcinoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 54 2 0.010 None 1.000 1 2017 2017
CUI: C1370889
Disease: Liposarcoma, well differentiated
Liposarcoma, well differentiated 		disease Neoplasms Neoplastic Process 54 0.010 None 1.000 1 2014 2014
CUI: C0036472
Disease: Scrub Typhus
Scrub Typhus 		disease Infections Disease or Syndrome 58 0.010 None 1.000 1 2018 2018
CUI: C0346302
Disease: Growth Hormone-Secreting Pituitary Adenoma
Growth Hormone-Secreting Pituitary Adenoma 		disease Neoplasms; Nervous System Diseases; Endocrine System Diseases Neoplastic Process 60 5 0.010 None 1.000 1 2019 2019
CUI: C0278622
Disease: Adult Malignant Peripheral Nerve Sheath Tumor
Adult Malignant Peripheral Nerve Sheath Tumor 		disease Neoplasms; Nervous System Diseases Neoplastic Process 62 2 0.010 None < 0.001 1 2010 2010