Source: HPO

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: 6389
Gene Symbol: SDHA
SDHA 		succinate dehydrogenase complex flavoprotein subunit A 0.517 0.731 2.6E-10
CUI: C0002871
Disease: Anemia
Anemia 		disease 0.100 None 0 0
Entrez Id: 6341
Gene Symbol: SCO1
SCO1 		synthesis of cytochrome C oxidase 1 0.638 0.769 2.2E-04
CUI: C0002871
Disease: Anemia
Anemia 		disease 0.100 None 0 0
Entrez Id: 6232
Gene Symbol: RPS27
RPS27 		ribosomal protein S27 0.578 0.769 0.76
CUI: C0002871
Disease: Anemia
Anemia 		disease 0.100 None 0 0
Entrez Id: 6231
Gene Symbol: RPS26
RPS26 		ribosomal protein S26 0.716 0.538 0.85
CUI: C0002871
Disease: Anemia
Anemia 		disease 0.100 None 0 0
Entrez Id: 6210
Gene Symbol: RPS15A
RPS15A 		ribosomal protein S15a 0.638 0.538 0.80
CUI: C0002871
Disease: Anemia
Anemia 		disease 0.100 None 0 0
Entrez Id: 6204
Gene Symbol: RPS10
RPS10 		ribosomal protein S10 0.729 0.462 0.97
CUI: C0002871
Disease: Anemia
Anemia 		disease 0.100 None 0 0
Entrez Id: 6155
Gene Symbol: RPL27
RPL27 		ribosomal protein L27 0.769 0.385 0.85
CUI: C0002871
Disease: Anemia
Anemia 		disease 0.100 None 0 0
Entrez Id: 6154
Gene Symbol: RPL26
RPL26 		ribosomal protein L26 0.695 0.423 0.92
CUI: C0002871
Disease: Anemia
Anemia 		disease 0.100 None 0 0
Entrez Id: 60529
Gene Symbol: ALX4
ALX4 		ALX homeobox 4 0.560 0.692 0.36
CUI: C0002871
Disease: Anemia
Anemia 		disease 0.100 None 0 0
Entrez Id: 6023
Gene Symbol: RMRP
RMRP 		RNA component of mitochondrial RNA processing endoribonuclease 0.519 0.731
CUI: C0002871
Disease: Anemia
Anemia 		disease 0.110 None 1.000 0 0 2005 2005
Entrez Id: 5972
Gene Symbol: REN
REN 		renin 0.370 0.923 2.4E-07
CUI: C0002871
Disease: Anemia
Anemia 		disease 0.500 None 1.000 0 0 1986 2019
Entrez Id: 55612
Gene Symbol: FERMT1
FERMT1 		fermitin family member 1 0.599 0.577 2.9E-11
CUI: C0002871
Disease: Anemia
Anemia 		disease 0.100 None 0 0
Entrez Id: 55572
Gene Symbol: FOXRED1
FOXRED1 		FAD dependent oxidoreductase domain containing 1 0.633 0.462 2.0E-16
CUI: C0002871
Disease: Anemia
Anemia 		disease 0.100 None 0 0
Entrez Id: 5184
Gene Symbol: PEPD
PEPD 		peptidase D 0.621 0.769 1.5E-14
CUI: C0002871
Disease: Anemia
Anemia 		disease 0.100 None 0 0
Entrez Id: 51750
Gene Symbol: RTEL1
RTEL1 		regulator of telomere elongation helicase 1 0.459 0.808 8.9E-10
CUI: C0002871
Disease: Anemia
Anemia 		disease 0.100 None 0 0
Entrez Id: 51601
Gene Symbol: LIPT1
LIPT1 		lipoyltransferase 1 0.674 0.462 3.8E-08
CUI: C0002871
Disease: Anemia
Anemia 		disease 0.100 None 0 0
Entrez Id: 5160
Gene Symbol: PDHA1
PDHA1 		pyruvate dehydrogenase E1 subunit alpha 1 0.581 0.538 0.99
CUI: C0002871
Disease: Anemia
Anemia 		disease 0.100 None 0 0
Entrez Id: 5156
Gene Symbol: PDGFRA
PDGFRA 		platelet derived growth factor receptor alpha 0.415 0.808 1.00
CUI: C0002871
Disease: Anemia
Anemia 		disease 0.110 None 1.000 0 0 2012 2012
Entrez Id: 51520
Gene Symbol: LARS1
LARS1 		leucyl-tRNA synthetase 1 0.678 0.577 8.2E-09
CUI: C0002871
Disease: Anemia
Anemia 		disease 0.100 None 0 0
Entrez Id: 51317
Gene Symbol: PHF21A
PHF21A 		PHD finger protein 21A 0.682 0.500 1.00
CUI: C0002871
Disease: Anemia
Anemia 		disease 0.100 None 0 0
Entrez Id: 51218
Gene Symbol: GLRX5
GLRX5 		glutaredoxin 5 0.659 0.538 0.75
CUI: C0002871
Disease: Anemia
Anemia 		disease 0.110 None 1.000 0 0 2007 2007
Entrez Id: 51204
Gene Symbol: TACO1
TACO1 		translational activator of cytochrome c oxidase I 0.647 0.577 1.5E-03
CUI: C0002871
Disease: Anemia
Anemia 		disease 0.100 None 0 0
Entrez Id: 5116
Gene Symbol: PCNT
PCNT 		pericentrin 0.564 0.808 4.0E-58
CUI: C0002871
Disease: Anemia
Anemia 		disease 0.100 None 0 0
Entrez Id: 51119
Gene Symbol: SBDS
SBDS 		SBDS ribosome maturation factor 0.601 0.692 6.2E-05
CUI: C0002871
Disease: Anemia
Anemia 		disease 0.100 None 0 0
Entrez Id: 51095
Gene Symbol: TRNT1
TRNT1 		tRNA nucleotidyl transferase 1 0.700 0.192 1.6E-04
CUI: C0002871
Disease: Anemia
Anemia 		disease 0.110 None 1.000 0 0 2016 2016