RPL21, ribosomal protein L21, 6144

N. diseases: 14; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4014563
Disease: HYPOTRICHOSIS 12
HYPOTRICHOSIS 12 		0.600 Biomarker disease GENOMICS_ENGLAND Mutation in ribosomal protein L21 underlies hereditary hypotrichosis simplex. 21412954 2011
CUI: C4014563
Disease: HYPOTRICHOSIS 12
HYPOTRICHOSIS 12 		0.600 GeneticVariation disease UNIPROT Mutation in ribosomal protein L21 underlies hereditary hypotrichosis simplex. 21412954 2011
CUI: C4014563
Disease: HYPOTRICHOSIS 12
HYPOTRICHOSIS 12 		0.600 CausalMutation disease CLINVAR
CUI: C0020678
Disease: Hypotrichosis
Hypotrichosis 		0.400 Biomarker disease CTD_human
CUI: C0020678
Disease: Hypotrichosis
Hypotrichosis 		0.400 Biomarker disease HPO
CUI: C1854310
Disease: Hypotrichosis simplex
Hypotrichosis simplex 		0.310 GeneticVariation disease BEFREE Mutation in ribosomal protein L21 underlies hereditary hypotrichosis simplex. 21412954 2011
CUI: C1854310
Disease: Hypotrichosis simplex
Hypotrichosis simplex 		0.310 GermlineCausalMutation disease ORPHANET Mutation in ribosomal protein L21 underlies hereditary hypotrichosis simplex. 21412954 2011
CUI: C0002170
Disease: Alopecia
Alopecia 		0.100 Biomarker disease HPO
CUI: C0277960
Disease: Dry hair
Dry hair 		0.100 Biomarker phenotype HPO
CUI: C1832348
Disease: Slow-growing hair
Slow-growing hair 		0.100 Biomarker phenotype HPO
CUI: C1843300
Disease: Sparse eyelashes
Sparse eyelashes 		0.100 Biomarker phenotype HPO
CUI: C1862863
Disease: Sparse body hair
Sparse body hair 		0.100 Biomarker phenotype HPO
CUI: C1873509
Disease: Hypotrichosis of the scalp
Hypotrichosis of the scalp 		0.100 Biomarker phenotype HPO
CUI: C3551431
Disease: Sparse or absent eyelashes
Sparse or absent eyelashes 		0.100 Biomarker phenotype HPO
CUI: C4021956
Disease: Aplasia/Hypoplasia of the eyebrow
Aplasia/Hypoplasia of the eyebrow 		0.100 Biomarker phenotype HPO
CUI: C4282407
Disease: Sparse and thin eyebrow
Sparse and thin eyebrow 		0.100 Biomarker phenotype HPO
CUI: C0019348
Disease: Herpes Simplex Infections
Herpes Simplex Infections 		0.010 Biomarker group BEFREE The herpes simplex virus 1 (HSV-1) U(L)21 gene encodes a 62-kDa tegument protein with homologs in the alpha-, beta-, and gammaherpesvirus subfamilies. 22496211 2012
CUI: C0086543
Disease: Cataract
Cataract 		0.010 AlteredExpression disease BEFREE One transcript exhibiting a decreased level of expression in cataract compared with normal lenses was identified as encoding ribosomal protein L21. 11773032 2002