RPL18, ribosomal protein L18, 6141

N. diseases: 31; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan 		0.500 GermlineCausalMutation disease ORPHANET Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisation. 28280134 2017
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan 		0.500 Biomarker disease GENOMICS_ENGLAND Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisation. 28280134 2017
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan 		0.500 Biomarker disease GENOMICS_ENGLAND Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisation. 28280134 2017
CUI: C2931850
Disease: Aase Smith syndrome 2
Aase Smith syndrome 2 		0.300 GermlineCausalMutation disease ORPHANET Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisation. 28280134 2017
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.300 Biomarker disease CTD_human A gene expression signature of acquired chemoresistance to cisplatin and fluorouracil combination chemotherapy in gastric cancer patients. 21364753 2011
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		0.300 Biomarker group CTD_human A gene expression signature of acquired chemoresistance to cisplatin and fluorouracil combination chemotherapy in gastric cancer patients. 21364753 2011
CUI: C0235874
Disease: Disease Exacerbation
Disease Exacerbation 		0.300 Biomarker phenotype CTD_human A gene expression signature of acquired chemoresistance to cisplatin and fluorouracil combination chemotherapy in gastric cancer patients. 21364753 2011
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		0.300 Biomarker disease CTD_human A gene expression signature of acquired chemoresistance to cisplatin and fluorouracil combination chemotherapy in gastric cancer patients. 21364753 2011
CUI: C0001824
Disease: Agranulocytosis
Agranulocytosis 		0.100 Biomarker disease HPO
CUI: C0002886
Disease: Anemia, Macrocytic
Anemia, Macrocytic 		0.100 Biomarker disease HPO
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.100 Biomarker phenotype HPO
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.100 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0015672
Disease: Fatigue
Fatigue 		0.100 Biomarker phenotype HPO
CUI: C0018564
Disease: Hand deformities
Hand deformities 		0.100 Biomarker group HPO
CUI: C0027947
Disease: Neutropenia
Neutropenia 		0.100 Biomarker disease HPO
CUI: C0030232
Disease: Pallor
Pallor 		0.100 Biomarker phenotype HPO
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty 		0.100 Biomarker phenotype HPO
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		0.100 Biomarker disease HPO
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders 		0.100 Biomarker group HPO
CUI: C0349588
Disease: Short stature
Short stature 		0.100 Biomarker phenotype HPO
CUI: C0744356
Disease: Abnormality of the genital system
Abnormality of the genital system 		0.100 Biomarker phenotype HPO
CUI: C1839739
Disease: Thick lower lip vermilion
Thick lower lip vermilion 		0.100 Biomarker phenotype HPO
CUI: C1842876
Disease: Depressed nasal ridge
Depressed nasal ridge 		0.100 Biomarker phenotype HPO
CUI: C1854114
Disease: Short nose
Short nose 		0.100 Biomarker phenotype HPO