SRP54, signal recognition particle 54, 6729

N. diseases: 96; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0024312
Disease: Lymphopenia
Lymphopenia
0.100 Biomarker disease HPO
CUI: C0024523
Disease: Malabsorption Syndrome
Malabsorption Syndrome
0.100 Biomarker group HPO
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation
0.100 Biomarker disease HPO
CUI: C0026985
Disease: Myelodysplasia
Myelodysplasia
0.100 Biomarker disease HPO
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
0.100 Biomarker disease HPO
CUI: C0027709
Disease: Nephrocalcinosis
Nephrocalcinosis
0.100 Biomarker disease HPO
CUI: C0029453
Disease: Osteopenia
Osteopenia
0.100 Biomarker disease HPO
CUI: C0030312
Disease: Pancytopenia
Pancytopenia
0.100 Biomarker disease HPO
CUI: C0031099
Disease: Periodontitis
Periodontitis
0.100 Biomarker disease HPO
CUI: C0031350
Disease: Pharyngitis
Pharyngitis
0.100 Biomarker disease HPO
CUI: C0032285
Disease: Pneumonia
Pneumonia
0.100 Biomarker disease HPO
Respiratory Distress Syndrome, Newborn
0.100 Biomarker disease HPO
CUI: C0035455
Disease: Rhinitis
Rhinitis
0.100 Biomarker disease HPO
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
0.100 Biomarker disease HPO
CUI: C0038238
Disease: Steatorrhea
Steatorrhea
0.100 Biomarker phenotype HPO
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
0.100 Biomarker phenotype HPO
CUI: C0085652
Disease: Pyoderma Gangrenosum
Pyoderma Gangrenosum
0.100 Biomarker disease HPO
CUI: C0085702
Disease: Monocytosis
Monocytosis
0.100 Biomarker disease HPO
CUI: C0149745
Disease: Oral Ulcer
Oral Ulcer
0.100 Biomarker disease HPO
CUI: C0149887
Disease: Slipped Capital Femoral Epiphyses
Slipped Capital Femoral Epiphyses
0.100 Biomarker disease HPO
CUI: C0158731
Disease: Congenital pectus carinatum
Congenital pectus carinatum
0.100 Biomarker disease HPO
CUI: C0232513
Disease: Premature tooth loss
Premature tooth loss
0.100 Biomarker phenotype HPO
Small for gestational age (disorder)
0.100 Biomarker phenotype HPO
Hip joint varus deformity - observation
0.100 Biomarker phenotype HPO
CUI: C0239941
Disease: Persistence of hemoglobin F
Persistence of hemoglobin F
0.100 Biomarker phenotype HPO