Hypothesis

6 Matching Annotations

Jun 2018
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal Syndrome

5
1. cthaxton 27 Jun 2018
  
  in Public
  
  heart murmur
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0030148
  
  ClinGen hpoLookup monarchLookup gene:TMEM260
2. cthaxton 27 Jun 2018
  
  in Public
  
  cyanosis
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000961
  
  ClinGen hpoLookup monarchLookup gene:TMEM260
3. cthaxton 27 Jun 2018
  
  in Public
  
  pulmonary venous return
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0010772
  
  ClinGen hpoLookup monarchLookup gene:TMEM260
4. cthaxton 27 Jun 2018
  
  in Public
  
  truncus arteriosus
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001660
  
  ClinGen hpoLookup monarchLookup gene:TMEM260
5. cthaxton 27 Jun 2018
  
  in Public
  
  TMEM260
  
  ClinGen gene:TMEM260 pmid:28318500 doi:10.1016/j.ajhg.2017.02.007
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Tags

hpoLookup

monarchLookup

gene:TMEM260

ClinGen

doi:10.1016/j.ajhg.2017.02.007

pmid:28318500

Annotators

cthaxton

URL

ncbi.nlm.nih.gov/pmc/articles/PMC5384036/