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: 10058
Gene Symbol: ABCB6
ABCB6 		ATP binding cassette subfamily B member 6 (Langereis blood group) 0.431 0.885 8.6E-19
CUI: C0302845
Disease: MCV - raised
MCV - raised 		phenotype 0.100 None 0 0
Entrez Id: 6229
Gene Symbol: RPS24
RPS24 		ribosomal protein S24 0.695 0.423 0.68
CUI: C0302845
Disease: MCV - raised
MCV - raised 		phenotype 0.100 None 0 0
Entrez Id: 6201
Gene Symbol: RPS7
RPS7 		ribosomal protein S7 0.682 0.462 0.95
CUI: C0302845
Disease: MCV - raised
MCV - raised 		phenotype 0.100 None 0 0
Entrez Id: 6135
Gene Symbol: RPL11
RPL11 		ribosomal protein L11 0.650 0.577 0.96
CUI: C0302845
Disease: MCV - raised
MCV - raised 		phenotype 0.100 None 0 0
Entrez Id: 6125
Gene Symbol: RPL5
RPL5 		ribosomal protein L5 0.617 0.615 1.00
CUI: C0302845
Disease: MCV - raised
MCV - raised 		phenotype 0.100 None 0 0
Entrez Id: 3783
Gene Symbol: KCNN4
KCNN4 		potassium calcium-activated channel subfamily N member 4 0.653 0.577 5.0E-07
CUI: C0302845
Disease: MCV - raised
MCV - raised 		phenotype 0.100 None 0 0
Entrez Id: 3043
Gene Symbol: HBB
HBB 		hemoglobin subunit beta 0.494 0.808 1.2E-09
CUI: C0302845
Disease: MCV - raised
MCV - raised 		phenotype 0.100 None 0 0
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11 		ankyrin repeat domain 11 0.556 0.808 1.00
CUI: C0302845
Disease: MCV - raised
MCV - raised 		phenotype 0.100 None 0 0
Entrez Id: 27249
Gene Symbol: MMADHC
MMADHC 		metabolism of cobalamin associated D 0.751 0.385 2.1E-05
CUI: C0302845
Disease: MCV - raised
MCV - raised 		phenotype 0.100 None 0 0
Entrez Id: 2694
Gene Symbol: CBLIF
CBLIF 		cobalamin binding intrinsic factor 0.507 0.808 2.5E-04
CUI: C0302845
Disease: MCV - raised
MCV - raised 		phenotype 0.100 None 0 0
Entrez Id: 9493
Gene Symbol: KIF23
KIF23 		kinesin family member 23 0.682 0.385 1.00
CUI: C0302845
Disease: MCV - raised
MCV - raised 		phenotype 0.100 None 0 0