TTC7A, tetratricopeptide repeat domain 7A, 57217

N. diseases: 59; N. variants: 26
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: C0266176
Disease: Congenital atresia of ileum
Congenital atresia of ileum 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 1 2 0.100 None 1.000 1 2 2016 2016
CUI: C4020944
Disease: Abnormality of the ductus choledochus
Abnormality of the ductus choledochus 		phenotype Anatomical Abnormality 1 0.100 None 0
CUI: C4025232
Disease: Jejunoileal ulceration
Jejunoileal ulceration 		phenotype Anatomical Abnormality 1 0.100 None 0
CUI: C0266190
Disease: Congenital atresia of colon
Congenital atresia of colon 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 2 3 0.100 None 1.000 1 2 2016 2016
CUI: C3806226
Disease: Ectopic calcification
Ectopic calcification 		phenotype Finding 2 0.100 None 0
CUI: C0266175
Disease: Jejunal Atresia
Jejunal Atresia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 3 2 0.100 None 1.000 1 2 2016 2016
CUI: C4025697
Disease: Gastrointestinal atresia
Gastrointestinal atresia 		disease Disease or Syndrome 3 0.100 None 0
CUI: C0220744
Disease: Multiple gastrointestinal atresias (disorder)
Multiple gastrointestinal atresias (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 5 23 0.760 None 1.000 13 23 2013 2019
CUI: C4025327
Disease: Congenital pyloric atresia
Congenital pyloric atresia 		disease Congenital Abnormality 6 2 0.100 None 1.000 1 2 2016 2016
CUI: C4025684
Disease: Recurrent abscess formation
Recurrent abscess formation 		phenotype Finding 6 0.100 None 0
CUI: C0149770
Disease: Rectal abscess
Rectal abscess 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Infections Pathologic Function 9 0.100 None 0
CUI: C0267756
Disease: Abscess of peritoneum
Abscess of peritoneum 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Infections Disease or Syndrome 9 0.100 None 0
CUI: C0242855
Disease: Congenital atresia of pulmonary valve
Congenital atresia of pulmonary valve 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 11 3 0.100 None 1.000 1 1 2016 2016
CUI: C0010668
Disease: Cystic Adenomatoid Malformation of Lung, Congenital
Cystic Adenomatoid Malformation of Lung, Congenital 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Congenital Abnormality 11 0.100 None 0
CUI: C0151594
Disease: Hemorrhagic diarrhea
Hemorrhagic diarrhea 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 16 0.100 None 0
CUI: C0574769
Disease: Loss of scalp hair
Loss of scalp hair 		phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding 16 4 0.100 None 0
CUI: C0238062
Disease: Chronic intestinal pseudo-obstruction
Chronic intestinal pseudo-obstruction 		disease Digestive System Diseases Disease or Syndrome 17 10 0.010 None 1.000 1 2019 2019
CUI: C4020869
Disease: Abnormality of abdomen morphology
Abnormality of abdomen morphology 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Anatomical Abnormality 17 0.100 None 0
CUI: C0431448
Disease: Absent eyebrow
Absent eyebrow 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 19 1 0.100 None 0
CUI: C0021828
Disease: Intestinal Atresia
Intestinal Atresia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Disease or Syndrome 20 2 0.100 None 1.000 1 1 2016 2016
CUI: C0238093
Disease: Stenosis of duodenum
Stenosis of duodenum 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Anatomical Abnormality 29 1 0.100 None 0
CUI: C0685891
Disease: Congenital hypoplasia of thymus
Congenital hypoplasia of thymus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 34 0.100 None 0
CUI: C0020455
Disease: Hypergammaglobulinemia
Hypergammaglobulinemia 		disease Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 36 0.010 None 1.000 1 2019 2019
CUI: C0018932
Disease: Hematochezia
Hematochezia 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 37 12 0.100 None 0
CUI: C0014356
Disease: Enterocolitis
Enterocolitis 		disease Digestive System Diseases Disease or Syndrome 40 2 0.020 None 1.000 2 2014 2014