TESC, tescalcin, 54997

N. diseases: 97; N. variants: 1
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: C4696948
Disease: Trauma symptoms
Trauma symptoms 		phenotype Sign or Symptom 8 0.010 None 1.000 1 2020 2020
CUI: C1832033
Disease: Adult Subependymal Giant Cell Astrocytoma
Adult Subependymal Giant Cell Astrocytoma 		disease Neoplasms Neoplastic Process 14 0.010 None 1.000 1 2010 2010
CUI: C1832034
Disease: Childhood Subependymal Giant Cell Astrocytoma
Childhood Subependymal Giant Cell Astrocytoma 		disease Neoplasms Neoplastic Process 14 0.010 None 1.000 1 2010 2010
CUI: C4479709
Disease: FCD IIB
FCD IIB 		disease Disease or Syndrome 15 2 0.010 None 1.000 1 2004 2004
CUI: C0035411
Disease: Rhabdomyoma
Rhabdomyoma 		disease Neoplasms Neoplastic Process 16 1 0.020 None 1.000 2 1999 2018
CUI: C4518194
Disease: Epithelioid angiomyolipoma
Epithelioid angiomyolipoma 		disease Neoplasms Neoplastic Process 17 3 0.010 None 1.000 1 2017 2017
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 26 120 0.030 None 1.000 3 1996 2002
CUI: C0040963
Disease: Tricuspid Valve Stenosis
Tricuspid Valve Stenosis 		disease Cardiovascular Diseases Disease or Syndrome 26 1 0.010 None 1.000 1 2017 2017
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		disease Male Urogenital Diseases Congenital Abnormality 27 210 0.010 None 1.000 1 2018 2018
CUI: C1832916
Disease: Timothy syndrome
Timothy syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Mental Disorders; Cardiovascular Diseases Disease or Syndrome 32 9 0.010 None 1.000 1 2017 2017
CUI: C1854465
Disease: TUBEROUS SCLEROSIS 1 (disorder)
TUBEROUS SCLEROSIS 1 (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Disease or Syndrome 32 128 0.010 None 1.000 1 1998 1998
CUI: C0241961
Disease: Angiomyolipoma of kidney
Angiomyolipoma of kidney 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 36 1 0.030 None 1.000 3 2009 2019
CUI: C0431391
Disease: Hemimegalencephaly
Hemimegalencephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 39 4 0.010 None 1.000 1 2004 2004
CUI: C0205768
Disease: Subependymal Giant Cell Astrocytoma
Subependymal Giant Cell Astrocytoma 		disease Neoplasms Neoplastic Process 44 2 0.030 None 1.000 3 2010 2019
CUI: C2938983
Disease: Focal cortical dysplasia
Focal cortical dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 44 0.010 None 1.000 1 2004 2004
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 47 27 0.010 None 1.000 1 2011 2011
CUI: C0206633
Disease: Angiomyolipoma
Angiomyolipoma 		disease Neoplasms Neoplastic Process 53 1 0.040 None 1.000 4 1998 2015
CUI: C0032326
Disease: Pneumothorax
Pneumothorax 		phenotype Respiratory Tract Diseases Disease or Syndrome 69 3 0.010 None 1.000 1 2019 2019
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Skin and Connective Tissue Diseases Disease or Syndrome 71 79 0.010 None 1.000 1 2004 2004
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial 		disease Nervous System Diseases Disease or Syndrome 73 23 0.010 None 1.000 1 2019 2019
CUI: C3179349
Disease: Gastrointestinal Stromal Sarcoma
Gastrointestinal Stromal Sarcoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 74 0.010 None 1.000 1 2019 2019
CUI: C0018552
Disease: Hamartoma
Hamartoma 		disease Neoplasms Neoplastic Process 91 8 0.050 None 1.000 5 1994 2010
CUI: C0751674
Disease: Lymphangioleiomyomatosis
Lymphangioleiomyomatosis 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 96 17 0.100 None 1.000 10 2000 2019
CUI: C1562113
Disease: Fleck corneal dystrophy
Fleck corneal dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 104 12 0.010 None 1.000 1 2009 2009
CUI: C3887499
Disease: Renal cyst
Renal cyst 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 170 17 0.010 None 1.000 1 2018 2018