RPL15, ribosomal protein L15, 6138

N. diseases: 47; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018564
Disease: Hand deformities
Hand deformities 		0.100 Biomarker group HPO
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.100 Biomarker group 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: C0235983
Disease: Normochromic anemia
Normochromic anemia 		0.100 Biomarker phenotype 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: C0858867
Disease: Reticulocytopenia
Reticulocytopenia 		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
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C4021821
Disease: Abnormality of the urinary system
Abnormality of the urinary system 		0.100 Biomarker disease HPO
CUI: C4022547
Disease: Elevated red cell adenosine deaminase activity
Elevated red cell adenosine deaminase activity 		0.100 Biomarker phenotype HPO
CUI: C2931850
Disease: Aase Smith syndrome 2
Aase Smith syndrome 2 		0.300 GermlineCausalMutation disease ORPHANET Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia. 23812780 2013
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: 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: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		0.310 Biomarker group 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 		0.310 Biomarker group LHGDN Overexpression of ribosomal protein L15 is associated with cell proliferation in gastric cancer. 16608517 2006
CUI: C0241397
Disease: Triphalangeal thumb
Triphalangeal thumb 		0.400 Biomarker disease GENOMICS_ENGLAND Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia. 23812780 2013
CUI: C0241397
Disease: Triphalangeal thumb
Triphalangeal thumb 		0.400 Biomarker disease HPO
CUI: C3809888
Disease: DIAMOND-BLACKFAN ANEMIA 12
DIAMOND-BLACKFAN ANEMIA 12 		0.500 Biomarker disease GENOMICS_ENGLAND Recurring mutations in RPL15 are linked to hydrops fetalis and treatment independence in Diamond-Blackfan anemia. 29599205 2018