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: 11128
Gene Symbol: POLR3A
POLR3A 		RNA polymerase III subunit A 0.538 0.769 1.3E-23
CUI: C0241267
Disease: Absence of subcutaneous fat
Absence of subcutaneous fat 		phenotype 0.100 None 0 0
Entrez Id: 7737
Gene Symbol: RNF113A
RNF113A 		ring finger protein 113A 0.597 0.769 0.89
CUI: C0241267
Disease: Absence of subcutaneous fat
Absence of subcutaneous fat 		phenotype 0.100 None 0 0
Entrez Id: 404672
Gene Symbol: GTF2H5
GTF2H5 		general transcription factor IIH subunit 5 0.556 0.769 4.5E-02
CUI: C0241267
Disease: Absence of subcutaneous fat
Absence of subcutaneous fat 		phenotype 0.100 None 0 0
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		lamin A/C 0.384 0.885 1.00
CUI: C0241267
Disease: Absence of subcutaneous fat
Absence of subcutaneous fat 		phenotype 0.100 None 0 0
Entrez Id: 3763
Gene Symbol: KCNJ6
KCNJ6 		potassium inwardly rectifying channel subfamily J member 6 0.615 0.692 0.54
CUI: C0241267
Disease: Absence of subcutaneous fat
Absence of subcutaneous fat 		phenotype 0.100 None 0 0
Entrez Id: 2961
Gene Symbol: GTF2E2
GTF2E2 		general transcription factor IIE subunit 2 0.617 0.692 3.9E-02
CUI: C0241267
Disease: Absence of subcutaneous fat
Absence of subcutaneous fat 		phenotype 0.100 None 0 0
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4 		ERCC excision repair 4, endonuclease catalytic subunit 0.468 0.846 1.4E-12
CUI: C0241267
Disease: Absence of subcutaneous fat
Absence of subcutaneous fat 		phenotype 0.100 None 0 0
Entrez Id: 2071
Gene Symbol: ERCC3
ERCC3 		ERCC excision repair 3, TFIIH core complex helicase subunit 0.504 0.846 3.4E-11
CUI: C0241267
Disease: Absence of subcutaneous fat
Absence of subcutaneous fat 		phenotype 0.100 None 0 0
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2 		ERCC excision repair 2, TFIIH core complex helicase subunit 0.420 0.846 7.1E-20
CUI: C0241267
Disease: Absence of subcutaneous fat
Absence of subcutaneous fat 		phenotype 0.100 None 0 0
Entrez Id: 136647
Gene Symbol: MPLKIP
MPLKIP 		M-phase specific PLK1 interacting protein 0.604 0.654 1.6E-04
CUI: C0241267
Disease: Absence of subcutaneous fat
Absence of subcutaneous fat 		phenotype 0.100 None 0 0
Entrez Id: 857
Gene Symbol: CAV1
CAV1 		caveolin 1 0.388 0.885 8.3E-03
CUI: C0241267
Disease: Absence of subcutaneous fat
Absence of subcutaneous fat 		phenotype 0.100 None 0 0