STX16, syntaxin 16, 8675

N. diseases: 58; N. variants: 0
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: C1864100
Disease: PSEUDOHYPOPARATHYROIDISM, TYPE IB
PSEUDOHYPOPARATHYROIDISM, TYPE IB 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 13 2 0.400 None 0.933 15 2004 2017
CUI: C0033805
Disease: Pseudohypoaldosteronism
Pseudohypoaldosteronism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 19 3 0.300 None 0
CUI: C2713447
Disease: Hyperpotassemia and Hypertension, Familial
Hyperpotassemia and Hypertension, Familial 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 10 0.300 None 0
CUI: C2932715
Disease: Pseudohypoparathyroidism Type 1B
Pseudohypoparathyroidism Type 1B 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 8 0.300 None 0
CUI: C1449844
Disease: Pseudohypoaldosteronism, Type II
Pseudohypoaldosteronism, Type II 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 27 42 0.300 None 0
CUI: C1449843
Disease: Pseudohypoaldosteronism, Type I, Autosomal Recessive
Pseudohypoaldosteronism, Type I, Autosomal Recessive 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 10 6 0.300 None 0
CUI: C0268436
Disease: Pseudohypoaldosteronism, Type I
Pseudohypoaldosteronism, Type I 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 19 0.300 None 0
CUI: C1449842
Disease: Pseudohypoaldosteronism, Type I, Autosomal Dominant
Pseudohypoaldosteronism, Type I, Autosomal Dominant 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 13 20 0.300 None 0
CUI: C0033806
Disease: Pseudohypoparathyroidism
Pseudohypoparathyroidism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 34 4 0.150 None 0.800 5 2011 2017
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency 		disease Disease or Syndrome 168 27 0.110 None < 0.001 1 2015 2015
CUI: C0020598
Disease: Hypocalcemia
Hypocalcemia 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 94 13 0.110 None 1.000 1 2015 2015
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		phenotype Finding 426 39 0.100 None 0
CUI: C1853237
Disease: Isolated cases
Isolated cases 		phenotype Finding 111 0.100 None 0
CUI: C1855841
Disease: Hypocalcemic seizures
Hypocalcemic seizures 		disease Nutritional and Metabolic Diseases Disease or Syndrome 11 0.100 None 0
CUI: C0740651
Disease: Abdominal symptom
Abdominal symptom 		phenotype Sign or Symptom 17 3 0.100 None 0
CUI: C0857973
Disease: Elevated circulating parathyroid hormone level
Elevated circulating parathyroid hormone level 		phenotype Finding 18 1 0.100 None 0
CUI: C1864105
Disease: Low urinary cyclic AMP response to PTH administration
Low urinary cyclic AMP response to PTH administration 		phenotype Finding 3 0.100 None 0
CUI: C1866231
Disease: Full cheeks
Full cheeks 		phenotype Finding 103 4 0.100 None 0
CUI: C4552810
Disease: Irritability, CTCAE
Irritability, CTCAE 		phenotype Finding 140 0.100 None 0
CUI: C4551853
Disease: Diaphyseal sclerosis
Diaphyseal sclerosis 		phenotype Finding 6 0.100 None 0
CUI: C4025515
Disease: Cortical subperiosteal resorption of humeral metaphyses
Cortical subperiosteal resorption of humeral metaphyses 		phenotype Finding 2 0.100 None 0
CUI: C4025151
Disease: Increased bone density with cystic changes
Increased bone density with cystic changes 		phenotype Musculoskeletal Diseases Anatomical Abnormality 2 0.100 None 0
CUI: C3806442
Disease: Myoclonic spasms
Myoclonic spasms 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 10 2 0.100 None 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		phenotype Finding 779 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype Finding 1010 0.100 None 0