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: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0 5
CUI: C1142533
Disease: Smooth philtrum
Smooth philtrum 		phenotype Finding 105 10 0.100 None 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 833 95 0.100 None 0 1
CUI: C1854114
Disease: Short nose
Short nose 		phenotype Finding 265 23 0.100 None 0
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		group Nervous System Diseases Disease or Syndrome 362 247 0.100 None 0 5
CUI: C1856118
Disease: Prominent nasal tip
Prominent nasal tip 		phenotype Finding 13 4 0.100 None 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype Behavior and Behavior Mechanisms Finding 560 192 0.100 None 0 1
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 251 94 0.100 None 0 1
CUI: C0004134
Disease: Ataxia
Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 868 68 0.100 None 0
CUI: C0239676
Disease: High forehead
High forehead 		phenotype Finding 211 17 0.100 None 0
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.100 None 0.965 86 1992 2020
CUI: C0278595
Disease: Adult Fibrosarcoma
Adult Fibrosarcoma 		disease Neoplasms Neoplastic Process 387 9 0.010 None 1.000 1 1993 1993
CUI: C0016057
Disease: Fibrosarcoma
Fibrosarcoma 		disease Neoplasms Neoplastic Process 413 9 0.010 None 1.000 1 1993 1993
CUI: C0030779
Disease: Pelger-Huet Anomaly
Pelger-Huet Anomaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 25 7 0.010 None 1.000 1 1993 1993
CUI: C0039101
Disease: synovial sarcoma
synovial sarcoma 		disease Neoplasms Neoplastic Process 299 4 0.100 None 0.957 116 1994 2019
CUI: C0278660
Disease: Adult Synovial Sarcoma
Adult Synovial Sarcoma 		disease Neoplasms Neoplastic Process 198 1 0.100 None 0.945 91 1994 2019
CUI: C0279982
Disease: Childhood Synovial Sarcoma
Childhood Synovial Sarcoma 		disease Neoplasms Neoplastic Process 198 1 0.100 None 0.945 91 1994 2019
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 967 579 0.100 None 1.000 18 2 1994 2016
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 439 617 0.100 None 1.000 18 1 1994 2016
CUI: C0009319
Disease: Colitis
Colitis 		disease Digestive System Diseases Disease or Syndrome 1135 15 0.050 None 0.800 5 1996 2019
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		disease Digestive System Diseases Disease or Syndrome 1382 1147 0.020 None 1.000 2 1996 1998
CUI: C0270824
Disease: Visual seizure
Visual seizure 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 209 0.200 None 1.000 1 1996 1996
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 1175 145 0.060 None 1.000 6 1997 2019
CUI: C0037579
Disease: Soft Tissue Neoplasms
Soft Tissue Neoplasms 		group Neoplasms Neoplastic Process 145 0.030 None 1.000 3 1997 2006
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