RPS19, ribosomal protein S19, 6223

N. diseases: 256; N. variants: 17
Disease: Congenital hypoplastic anemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0949116
Disease: Congenital hypoplastic anemia
Congenital hypoplastic anemia 		0.170 Biomarker disease BEFREE RPS19 has been identified as the first gene associated with Diamond-Blackfan anemia (DBA), a rare congenital hypoplastic anemia that includes variable physical malformations. 17517689 2007
CUI: C0949116
Disease: Congenital hypoplastic anemia
Congenital hypoplastic anemia 		0.170 GeneticVariation disease BEFREE Mutations in the ribosomal protein (RP)S19 gene have been found in about 25% of the cases of Diamond-Blackfan anemia (DBA), a rare congenital hypoplastic anemia that includes variable physical malformations. 15523650 2004
CUI: C0949116
Disease: Congenital hypoplastic anemia
Congenital hypoplastic anemia 		0.170 GeneticVariation disease BEFREE Ribosomal protein S19 (RPS19) is frequently mutated in Diamond-Blackfan anemia (DBA), a rare congenital hypoplastic anemia. 12586610 2003
CUI: C0949116
Disease: Congenital hypoplastic anemia
Congenital hypoplastic anemia 		0.170 Biomarker disease BEFREE Diamond-Blackfan anemia (DBA) is a rare congenital hypoplastic anemia that usually presents early in infancy and is inherited in 10% to 20% of cases. 11264183 2001
CUI: C0949116
Disease: Congenital hypoplastic anemia
Congenital hypoplastic anemia 		0.170 Biomarker disease BEFREE Diamond Blackfan anemia is a rare congenital hypoplastic anemia that usually presents early in infancy. 10698294 2000
CUI: C0949116
Disease: Congenital hypoplastic anemia
Congenital hypoplastic anemia 		0.170 GeneticVariation disease BEFREE A 7 year old girl is described with congenital hypoplastic anaemia (Diamond-Blackfan anaemia, DBA) and an apparently balanced reciprocal translocation, 46,XX,t(X;19)(p21;q13). 9321770 1997
CUI: C0949116
Disease: Congenital hypoplastic anemia
Congenital hypoplastic anemia 		0.170 Biomarker disease BEFREE Diamond-Blackfan anemia (DBA) is a rare, congenital, hypoplastic anemia that usually presents in early infancy. 9443046 1997
CUI: C0949116
Disease: Congenital hypoplastic anemia
Congenital hypoplastic anemia 		0.170 Biomarker disease HPO