TMEM199, transmembrane protein 199, 147007

N. diseases: 18; N. variants: 8
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.
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp
disease Disease or Syndrome; Congenital Abnormality 1 4 0.700 None 1.000 1 4 2016 2016
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
disease Digestive System Diseases Disease or Syndrome 1143 75 0.110 None 1.000 1 2018 2018
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
phenotype Laboratory Procedure 1156 2575 0.100 None 1.000 1 1 2018 2018
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase
phenotype Finding 212 9 0.100 None 0
CUI: C1314665
Disease: Serum alkaline phosphatase raised
Serum alkaline phosphatase raised
phenotype Finding 67 6 0.100 None 0
Abnormal protein O-linked glycosylation
phenotype Anatomical Abnormality 2 0.100 None 0
CUI: C0549399
Disease: Low density lipoprotein increased
Low density lipoprotein increased
phenotype Nutritional and Metabolic Diseases Finding 23 318 0.100 None 0
CUI: C0240997
Disease: Decreased serum ceruloplasmin
Decreased serum ceruloplasmin
phenotype Finding 12 5 0.100 None 0
CUI: C0232744
Disease: Decreased liver function
Decreased liver function
phenotype Finding 59 5 0.100 None 0
Abnormal protein N-linked glycosylation
phenotype Finding 1 0.100 None 0
CUI: C0151849
Disease: Alkaline phosphatase raised
Alkaline phosphatase raised
phenotype Nutritional and Metabolic Diseases; Musculoskeletal Diseases Finding 55 0.100 None 0
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
disease Nutritional and Metabolic Diseases Disease or Syndrome 489 123 0.100 None 0
CUI: C0015695
Disease: Fatty Liver
Fatty Liver
disease Digestive System Diseases Disease or Syndrome 875 35 0.100 None 0
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.010 None 1.000 1 2010 2010
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.010 None 1.000 1 2010 2010
CUI: C0153252
Disease: Systemic candidiasis
Systemic candidiasis
disease Infections Disease or Syndrome 73 0.010 None 1.000 1 2019 2019
CUI: C0023895
Disease: Liver diseases
Liver diseases
group Digestive System Diseases Disease or Syndrome 1019 100 0.010 None 1.000 1 2018 2018
Congenital disorder of glycosylation type 1s
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 19 0.010 None 1.000 1 2018 2018