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: C1834523
Disease: ARTHROGRYPOSIS, DISTAL, TYPE 2B
ARTHROGRYPOSIS, DISTAL, TYPE 2B
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 25 6 0.960 strong 1.000 10 4 2003 2018
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: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 198 33 0.420 strong 1.000 3 2005 2013
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: C0026848
Disease: Myopathy
Myopathy
group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 634 166 0.310 None 1.000 2 2006 2009
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: 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: 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
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: 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: 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
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: 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
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
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: 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: C3280526
Disease: ARTHROGRYPOSIS, DISTAL, TYPE 1B
ARTHROGRYPOSIS, DISTAL, TYPE 1B
disease Disease or Syndrome 4 3 0.200 None 1.000 1 2014 2014
Ulnar deviation of the hand or of fingers of the hand
phenotype Finding 11 0.100 None 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide
phenotype Finding 429 29 0.100 None 0
CUI: C1837463
Disease: Narrow face
Narrow face
phenotype Finding 87 6 0.100 None 0
CUI: C0265654
Disease: Tarsal Coalition
Tarsal Coalition
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 22 1 0.100 None 0
CUI: C1835884
Disease: Triangular face
Triangular face
phenotype Finding 111 16 0.100 None 0
CUI: C4082169
Disease: Metatarsus Varus
Metatarsus Varus
disease Musculoskeletal Diseases Anatomical Abnormality 41 3 0.100 None 0
CUI: C1446712
Disease: Overlapping fingers
Overlapping fingers
disease Acquired Abnormality 27 2 0.100 None 0
CUI: C4021959
Disease: Round ear
Round ear
disease Anatomical Abnormality 10 4 0.100 None 0