TNNI2, troponin I2, fast skeletal type, 7136

N. diseases: 64; N. variants: 4
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: C0265213
Disease: Distal arthrogryposis syndrome
Distal arthrogryposis syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 22 15 0.400 None 1.000 11 1 2006 2020
CUI: C0220662
Disease: ARTHROGRYPOSIS, DISTAL, TYPE 1
ARTHROGRYPOSIS, DISTAL, TYPE 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome; Congenital Abnormality 9 10 0.540 None 1.000 6 1997 2016
CUI: C0265224
Disease: Freeman-Sheldon syndrome
Freeman-Sheldon syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 26 6 0.240 None 1.000 5 1997 2014
CUI: C0026848
Disease: Myopathy
Myopathy 		group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 634 166 0.310 None 1.000 2 2006 2009
CUI: C0410158
Disease: Muscle damage
Muscle damage 		phenotype Acquired Abnormality 163 4 0.020 None 1.000 2 2019 2019
CUI: C3280526
Disease: ARTHROGRYPOSIS, DISTAL, TYPE 1B
ARTHROGRYPOSIS, DISTAL, TYPE 1B 		disease Disease or Syndrome 4 3 0.200 None 1.000 1 2014 2014
CUI: C0685409
Disease: Congenital Camptodactyly
Congenital Camptodactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 123 10 0.010 None 1.000 1 2020 2020
CUI: C1852597
Disease: Arthrogryposis, distal, type 2E
Arthrogryposis, distal, type 2E 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 3 0.200 None 1.000 1 2014 2014
CUI: C0221369
Disease: Acquired Camptodactyly
Acquired Camptodactyly 		disease Acquired Abnormality 120 1 0.010 None 1.000 1 2020 2020
CUI: C0265226
Disease: Hecht syndrome (disorder)
Hecht syndrome (disorder) 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 5 1 0.200 None 1.000 1 2014 2014
CUI: C1836756
Disease: ARTHROGRYPOSIS, DISTAL, TYPE 4 (disorder)
ARTHROGRYPOSIS, DISTAL, TYPE 4 (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 3 0.200 None 1.000 1 2014 2014
CUI: C1862472
Disease: Oculomelic amyoplasia
Oculomelic amyoplasia 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 4 11 0.200 None 1.000 1 2014 2014
CUI: C1862471
Disease: Arthrogryposis-like hand anomaly and sensorineural deafness
Arthrogryposis-like hand anomaly and sensorineural deafness 		phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 3 0.200 None 1.000 1 2014 2014
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 559 48 0.200 None 1.000 1 2014 2014
CUI: C0220666
Disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 15 3 0.200 None 1.000 1 2014 2014
CUI: C0009917
Disease: Contracture
Contracture 		disease Musculoskeletal Diseases Anatomical Abnormality 111 12 0.010 None 1.000 1 2013 2013
CUI: C1848934
Disease: SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME
SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 36 19 0.010 None 1.000 1 2016 2016
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		disease Digestive System Diseases; Neoplasms Neoplastic Process 3806 615 0.010 None 1.000 1 2018 2018
CUI: C1852085
Disease: Digitotalar Dysmorphism
Digitotalar Dysmorphism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 6 0.300 None 1.000 1 2013 2013
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 1800 680 0.010 None 1.000 1 2019 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6385 327 0.010 None 1.000 1 2018 2018
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 3720 652 0.010 None 1.000 1 2018 2018
CUI: C3554415
Disease: Distal arthrogryposis type 5D
Distal arthrogryposis type 5D 		disease Disease or Syndrome 3 20 0.200 None 1.000 1 2014 2014
CUI: C1861238
Disease: ARTHROGRYPOSIS, DISTAL, TYPE 10
ARTHROGRYPOSIS, DISTAL, TYPE 10 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 3 0.200 None 1.000 1 2014 2014
CUI: C1860450
Disease: Calcaneovalgus deformity
Calcaneovalgus deformity 		disease Anatomical Abnormality 12 2 0.100 None 0 1