Source: GENOMICS_ENGLAND

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 6154
Gene Symbol: RPL26
RPL26
ribosomal protein L26 0.695 0.423 0.92
CUI: C3554042
Disease: DIAMOND-BLACKFAN ANEMIA 11
DIAMOND-BLACKFAN ANEMIA 11
disease 0.600 None 1.000 1 0 2012 2012
Entrez Id: 6154
Gene Symbol: RPL26
RPL26
ribosomal protein L26 0.695 0.423 0.92
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan
disease 0.510 strong 1.000 1 0 2012 2017
Entrez Id: 6154
Gene Symbol: RPL26
RPL26
ribosomal protein L26 0.695 0.423 0.92
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray
phenotype 0.300 None 0 0
Entrez Id: 6154
Gene Symbol: RPL26
RPL26
ribosomal protein L26 0.695 0.423 0.92
CUI: C4229582
Disease: Absent thumb, bilateral
Absent thumb, bilateral
phenotype 0.300 moderate 0 0
Entrez Id: 6154
Gene Symbol: RPL26
RPL26
ribosomal protein L26 0.695 0.423 0.92
Hypoplasia or aplasia of radius, unilateral
phenotype 0.300 moderate 0 0