TMEM231, transmembrane protein 231, 79583

N. diseases: 11; N. variants: 10
Source: CURATED ×
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: C3554235
Disease: JOUBERT SYNDROME 20
JOUBERT SYNDROME 20 		disease Disease or Syndrome 1 4 0.600 None 1.000 4 4 2012 2016
CUI: C3809352
Disease: MECKEL SYNDROME, TYPE 11
MECKEL SYNDROME, TYPE 11 		disease Disease or Syndrome 1 6 0.600 None 1.000 2 6 2012 2016
CUI: C1855675
Disease: Arima syndrome
Arima syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases Disease or Syndrome 7 0.500 None 1.000 1 2012 2012
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases Disease or Syndrome 30 175 0.430 limited 1.000 2 2 2012 2019
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 15 105 0.420 None 1.000 1 1 2013 2019
CUI: C0152427
Disease: Polydactyly
Polydactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 117 37 0.400 None 0 1
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 18 30 0.330 None 1.000 2 2012 2019
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 110 1 0.310 None 1.000 0 2013 2013
CUI: C3179349
Disease: Gastrointestinal Stromal Sarcoma
Gastrointestinal Stromal Sarcoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 47 0.300 None 1.000 1 2016 2016
CUI: C0406726
Disease: Orofaciodigital syndrome 3
Orofaciodigital syndrome 3 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 1 0.300 None 1.000 1 2015 2015
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		group Digestive System Diseases; Neoplasms Neoplastic Process 50 124 0.300 None 1.000 1 2016 2016