(Q1208654)

https://ddrare.nibiohn.go.jp/

17 May 2019

0 references

0 references

0 references

congenital hypoplastic anemia

1 reference

30 November 2020

Dreigliedriger Daumen.jpg
3,120 × 4,160; 3.76 MB

0 references

0 references

1 reference

Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia

RPL26

1 reference

Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia

RPS29

2 references

Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000213741/Orphanet_124

inferred from an Open Targets association score over 0.7

RPS26

2 references

Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000197728/Orphanet_124

inferred from an Open Targets association score over 0.7

RPS10

2 references

Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000124614/Orphanet_124

inferred from an Open Targets association score over 0.7

RPS19

2 references

The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000105372/Orphanet_124

inferred from an Open Targets association score over 0.7

RPS7

2 references

Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000171863/Orphanet_124

inferred from an Open Targets association score over 0.7

RPL11

2 references

Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000142676/Orphanet_124

inferred from an Open Targets association score over 0.7

RPL5

2 references

Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000122406/Orphanet_124

inferred from an Open Targets association score over 0.7

RPL35A

2 references

Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000182899/Orphanet_124

inferred from an Open Targets association score over 0.7

RPS24

2 references

Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000138326/Orphanet_124

inferred from an Open Targets association score over 0.7

RPS17

2 references

Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000182774/Orphanet_124

inferred from an Open Targets association score over 0.7

GATA1

1 reference

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000102145/Orphanet_124

inferred from an Open Targets association score over 0.7

external data available at URL

http://www.nanbyou.or.jp/entry/4420

language of work or name

Japanese

1 reference

https://ddrare.nibiohn.go.jp/

on focus list of Wikimedia project

17 May 2019

WikiProject Medicine

0 references

NCI Thesaurus ID

C61236

1 reference

15 May 2019

http://purl.obolibrary.org/obo/DOID_1339

1 reference

30 November 2020

http://identifiers.org/doid/DOID:1339

1 reference

Identifiers.org

https://registry.identifiers.org/registry/doid

http://www.orpha.net/ORDO/Orphanet_124

0 references

Identifiers

MeSH descriptor ID

D029503

subject named as

Anemia, Diamond-Blackfan

1 reference

15 May 2019

C15.378.050.085.080.090

0 references

C15.378.050.750.500

0 references

C15.378.190.223.500.500.090

0 references

C16.320.077.090

0 references

MedlinePlus ID

001662

1 reference

imported from Wikimedia project

Spanish Wikipedia

PatientsLikeMe condition ID

diamond-blackfan-anemia

0 references

0 references

1 reference

30 November 2020

1 reference

imported from Wikimedia project

English Wikipedia

eMedicine ID

205695

1 reference

imported from Wikimedia project

1 reference

28 October 2013

1 reference

15 May 2019

1 reference

15 May 2019

0 references

Microsoft Academic ID

0 references

1 reference

15 May 2019

1 reference

15 May 2019

1 reference

15 May 2019

1 reference

15 May 2019

1 reference

15 May 2019

1 reference

15 May 2019

1 reference

15 May 2019

1 reference

15 May 2019

1 reference

15 May 2019

1 reference

15 May 2019

1 reference

15 May 2019

1 reference

15 May 2019

1 reference

15 May 2019

1 reference

26 January 2022

https://docs.openalex.org/download-snapshot/snapshot-data-format

1 reference

15 May 2019

Diamond-Blackfan-Syndrome

1 reference