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: 5896
Gene Symbol: RAG1
RAG1 		recombination activating 1 0.509 0.769 2.8E-05
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		phenotype 0.100 None 0 0
Entrez Id: 55858
Gene Symbol: TMEM165
TMEM165 		transmembrane protein 165 0.711 0.385 0.28
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		phenotype 0.100 None 0 0
Entrez Id: 5580
Gene Symbol: PRKCD
PRKCD 		protein kinase C delta 0.480 0.846 1.00
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		phenotype 0.100 None 0 0
Entrez Id: 55768
Gene Symbol: NGLY1
NGLY1 		N-glycanase 1 0.601 0.654 1.5E-13
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		phenotype 0.100 None 0 0
Entrez Id: 55687
Gene Symbol: TRMU
TRMU 		tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase 0.716 0.385 1.5E-16
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		phenotype 0.100 None 0 0
Entrez Id: 55532
Gene Symbol: SLC30A10
SLC30A10 		solute carrier family 30 member 10 0.578 0.654 0.98
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		phenotype 0.100 None 0 0
Entrez Id: 55240
Gene Symbol: STEAP3
STEAP3 		STEAP3 metalloreductase 0.666 0.385 5.3E-09
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		phenotype 0.100 None 0 0
Entrez Id: 54931
Gene Symbol: TRMT10C
TRMT10C 		tRNA methyltransferase 10C, mitochondrial RNase P subunit 0.839 0.154 9.7E-05
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		phenotype 0.100 None 0 0
Entrez Id: 5468
Gene Symbol: PPARG
PPARG 		peroxisome proliferator activated receptor gamma 0.358 0.885 2.9E-02
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		phenotype 0.100 None 0 0
Entrez Id: 546
Gene Symbol: ATRX
ATRX 		ATRX chromatin remodeler 0.452 0.808 1.00
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		phenotype 0.100 None 0 0
Entrez Id: 54344
Gene Symbol: DPM3
DPM3 		dolichyl-phosphate mannosyltransferase subunit 3, regulatory 0.839 0.308 0.23
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		phenotype 0.100 None 0 0
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1 		serine protease 1 0.563 0.692 4.1E-11
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		phenotype 0.100 None 0 0
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E 		inositol polyphosphate-5-phosphatase E 0.561 0.615 3.1E-03
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		phenotype 0.100 None 0 0
Entrez Id: 56652
Gene Symbol: TWNK
TWNK 		twinkle mtDNA helicase 0.516 0.692 3.2E-03
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		phenotype 0.100 None 0 0
Entrez Id: 5836
Gene Symbol: PYGL
PYGL 		glycogen phosphorylase L 0.705 0.423 1.7E-17
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		phenotype 0.100 None 0 0
Entrez Id: 5825
Gene Symbol: ABCD3
ABCD3 		ATP binding cassette subfamily D member 3 0.751 0.423 7.8E-03
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		phenotype 0.100 None 0 0
Entrez Id: 5824
Gene Symbol: PEX19
PEX19 		peroxisomal biogenesis factor 19 0.585 0.731 3.2E-04
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		phenotype 0.100 None 0 0
Entrez Id: 57817
Gene Symbol: HAMP
HAMP 		hepcidin antimicrobial peptide 0.433 0.846 8.2E-03
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		phenotype 0.100 None 0 0
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A 		coiled-coil and C2 domain containing 2A 0.532 0.692 1.7E-27
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		phenotype 0.100 None 0 0
Entrez Id: 57539
Gene Symbol: WDR35
WDR35 		WD repeat domain 35 0.525 0.692 1.0E-22
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		phenotype 0.100 None 0 0
Entrez Id: 57104
Gene Symbol: PNPLA2
PNPLA2 		patatin like phospholipase domain containing 2 0.511 0.846 4.1E-03
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		phenotype 0.100 None 0 0
Entrez Id: 5698
Gene Symbol: PSMB9
PSMB9 		proteasome 20S subunit beta 9 0.514 0.808 2.7E-03
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		phenotype 0.100 None 0 0
Entrez Id: 5696
Gene Symbol: PSMB8
PSMB8 		proteasome 20S subunit beta 8 0.533 0.808 2.2E-02
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		phenotype 0.100 None 0 0
Entrez Id: 5692
Gene Symbol: PSMB4
PSMB4 		proteasome 20S subunit beta 4 0.659 0.615 2.6E-03
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		phenotype 0.100 None 0 0
Entrez Id: 5428
Gene Symbol: POLG
POLG 		DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		phenotype 0.100 None 0 0