TMEM127, transmembrane protein 127, 55654

N. diseases: 72; N. variants: 31
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: C0596887
Disease: mathematical ability
mathematical ability
phenotype Mental Process 854 2127 0.100 None 1.000 1 1 2018 2018
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 1075 276 0.010 None 1.000 1 2010 2010
CUI: C1868393
Disease: Elevated urinary epinephrine
Elevated urinary epinephrine
phenotype Finding 14 0.100 None 0
CUI: C1868394
Disease: Elevated calcitonin
Elevated calcitonin
phenotype Finding 17 0.100 None 0
CUI: C3149711
Disease: PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO
PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO
disease Finding 2 9 0.100 None 0 4
CUI: C3160712
Disease: Palpitations, CTCAE
Palpitations, CTCAE
phenotype Finding 64 0.100 None 0
CUI: C4023099
Disease: Elevated urinary dopamine
Elevated urinary dopamine
phenotype Finding 15 0.100 None 0
CUI: C4025594
Disease: Positive regitine blocking test
Positive regitine blocking test
phenotype Finding 15 0.100 None 0
CUI: C4025626
Disease: Elevated urinary norepinephrine
Elevated urinary norepinephrine
phenotype Finding 15 0.100 None 0
CUI: C1387805
Disease: Episodic paroxysmal anxiety
Episodic paroxysmal anxiety
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 14 0.100 None 0
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
disease Cardiovascular Diseases Disease or Syndrome 1760 165 0.100 None 0
CUI: C0221154
Disease: Paroxysmal hypertension
Paroxysmal hypertension
disease Cardiovascular Diseases Disease or Syndrome 9 0.100 None 0
CUI: C1857175
Disease: Episodic hypertension
Episodic hypertension
phenotype Cardiovascular Diseases Finding 8 0.100 None 0
CUI: C0003076
Disease: Aniridia
Aniridia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 83 29 0.100 None 0
Hereditary Paraganglioma-Pheochromocytoma Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Disease or Syndrome 23 98 0.400 definitive 1.000 10 13 2010 2016
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 88 6387 0.100 None 1.000 4 6 2010 2016
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 174 187 0.010 None 1.000 1 2017 2017
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
disease Digestive System Diseases Disease or Syndrome 1143 75 0.010 None 1.000 1 2019 2019
CUI: C0349535
Disease: Carcinoid tumor of intestine
Carcinoid tumor of intestine
disease Digestive System Diseases; Neoplasms Neoplastic Process 4 0.300 strong 0
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
disease Digestive System Diseases; Neoplasms Disease or Syndrome 20 34 0.300 strong 0
Bilateral pheochromocytoma and islet cell adenoma of the pancreas
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 10 0.020 None 1.000 2 2015 2015
CUI: C0152132
Disease: Hypertensive Retinopathy
Hypertensive Retinopathy
disease Eye Diseases; Cardiovascular Diseases Disease or Syndrome 24 2 0.100 None 0
CUI: C0017658
Disease: Glomerulonephritis
Glomerulonephritis
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 391 7 0.100 None 0
CUI: C0035067
Disease: Renal Artery Stenosis
Renal Artery Stenosis
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases Disease or Syndrome 37 8 0.100 None 0
CUI: C0178664
Disease: Glomerulosclerosis (disorder)
Glomerulosclerosis (disorder)
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases Disease or Syndrome 221 3 0.100 None 0