TTC37, tetratricopeptide repeat domain 37, 9652

N. diseases: 91; N. variants: 12
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: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases Disease or Syndrome 424 28 0.700 strong 0.917 12 2 2010 2018
CUI: C4551982
Disease: TRICHOHEPATOENTERIC SYNDROME 1
TRICHOHEPATOENTERIC SYNDROME 1 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases Disease or Syndrome 2 11 0.600 strong 1.000 3 10 2010 2017
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		phenotype Finding 271 106 0.400 strong 1.000 1 2017 2017
CUI: C0266617
Disease: Congenital anomaly of face
Congenital anomaly of face 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases Congenital Abnormality 114 7 0.300 strong 1.000 1 2017 2017
CUI: C0021053
Disease: Immune System Diseases
Immune System Diseases 		group Immune System Diseases Disease or Syndrome 451 116 0.300 strong 1.000 1 2017 2017
CUI: C0086438
Disease: Hypogammaglobulinemia
Hypogammaglobulinemia 		disease Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 76 2 0.300 strong 1.000 1 2017 2017
CUI: C0743178
Disease: Intractable diarrhea
Intractable diarrhea 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 13 3 0.120 None 1.000 2 2012 2016
CUI: C0263485
Disease: Clastothrix
Clastothrix 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 8 0.110 None 1.000 1 2016 2016
CUI: C0566693
Disease: Large placenta
Large placenta 		phenotype Finding 4 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: C0836924
Disease: Thrombocytosis
Thrombocytosis 		disease Hemic and Lymphatic Diseases Disease or Syndrome 93 12 0.100 None 0
CUI: C1849923
Disease: Generalized hypopigmentation
Generalized hypopigmentation 		phenotype Skin and Connective Tissue Diseases Finding 23 1 0.100 None 0
CUI: C1096367
Disease: Increased mean platelet volume
Increased mean platelet volume 		phenotype Finding 10 2 0.100 None 0
CUI: C0302511
Disease: Small for gestational age fetus
Small for gestational age fetus 		phenotype Pathological Conditions, Signs and Symptoms Finding 156 0.100 None 0
CUI: C0558165
Disease: Curly hair (finding)
Curly hair (finding) 		phenotype Finding 24 7 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.100 None 0
CUI: C0343073
Disease: Wooly hair
Wooly hair 		phenotype Skin and Connective Tissue Diseases Finding 19 0.100 None 0
CUI: C0345030
Disease: Peripheral pulmonary artery stenosis
Peripheral pulmonary artery stenosis 		disease Cardiovascular Diseases Disease or Syndrome 23 3 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		phenotype Finding 391 49 0.100 None 0
CUI: C0423867
Disease: Fine hair
Fine hair 		phenotype Finding 69 1 0.100 None 0
CUI: C0426421
Disease: Wide nose
Wide nose 		phenotype Finding 87 1 0.100 None 0
CUI: C0554101
Disease: Villous atrophy
Villous atrophy 		phenotype Finding 19 0.100 None 0
CUI: C1328587
Disease: Panhypogammaglobulinemia
Panhypogammaglobulinemia 		phenotype Finding 20 2 0.100 None 0