Gene UniProt Gene Full Name Protein Class N. diseases g DSI g DPI g pLI Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
P35680 HNF1 homeobox B nucleic acid binding; transcription factor 152 0.526 0.621 1.00 0.320 1.000 11 0 1997 2015
Entrez Id: 80270
Gene Symbol: HSD3B7
HSD3B7
Q9H2F3 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 isomerase; lyase; oxidoreductase 48 0.713 0.276 1.3E-08 0.320 strong 1.000 3 0 2000 2010
Entrez Id: 9420
Gene Symbol: CYP7B1
CYP7B1
O75881 cytochrome P450 family 7 subfamily B member 1 oxidoreductase 102 0.604 0.517 3.2E-06 0.310 moderate < 0.001 2 0 1998 2012
Entrez Id: 9971
Gene Symbol: NR1H4
NR1H4
Q96RI1 nuclear receptor subfamily 1 group H member 4 nucleic acid binding; receptor; transcription factor 149 0.522 0.655 1.3E-03 0.310 strong 1.000 1 0 2016 2016
Entrez Id: 383
Gene Symbol: ARG1
ARG1
P05089 arginase 1 hydrolase 128 0.551 0.724 3.3E-04 0.310 limited 1.000 1 0 2016 2016
Entrez Id: 1593
Gene Symbol: CYP27A1
CYP27A1
Q02318 cytochrome P450 family 27 subfamily A member 1 oxidoreductase 122 0.582 0.655 2.4E-19 0.300 strong 8 0 1991 2018
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
P38571 lipase A, lysosomal acid type hydrolase; protease 90 0.609 0.448 3.9E-07 0.300 strong 8 0 1994 2018
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
O15118 NPC intracellular cholesterol transporter 1 173 0.536 0.690 2.8E-05 0.300 strong 8 0 1997 2013
Entrez Id: 1244
Gene Symbol: ABCC2
ABCC2
Q92887 ATP binding cassette subfamily C member 2 transporter 185 0.495 0.690 7.5E-47 0.300 strong 7 0 1998 2018
Entrez Id: 1716
Gene Symbol: DGUOK
DGUOK
Q16854 deoxyguanosine kinase kinase; transferase 103 0.616 0.448 3.6E-07 0.300 strong 7 0 1993 2018
Entrez Id: 2184
Gene Symbol: FAH
FAH
P16930 fumarylacetoacetate hydrolase 78 0.624 0.483 6.8E-17 0.300 strong 6 0 2000 2017
Entrez Id: 27031
Gene Symbol: NPHP3
NPHP3
Q7Z494 nephrocystin 3 89 0.604 0.414 1.2E-15 0.300 moderate 4 0 2008 2014
Entrez Id: 10577
Gene Symbol: NPC2
NPC2
P61916 NPC intracellular cholesterol transporter 2 82 0.607 0.655 1.9E-03 0.300 strong 4 0 2001 2007
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
P13569 cystic fibrosis transmembrane conductance regulator transporter 307 0.453 0.793 1.1E-57 0.300 strong 4 0 1999 2016
Entrez Id: 55687
Gene Symbol: TRMU
TRMU
O75648 tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase nucleic acid binding; transferase 41 0.735 0.241 1.3E-16 0.300 strong 4 0 2009 2013
Entrez Id: 132
Gene Symbol: ADK
ADK
P55263 adenosine kinase 78 0.639 0.483 3.6E-04 0.300 moderate 3 0 2011 2016
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
P01009 serpin family A member 1 enzyme modulator 284 0.453 0.793 4.2E-08 0.300 limited 3 0 2014 2016
Entrez Id: 64240
Gene Symbol: ABCG5
ABCG5
Q9H222 ATP binding cassette subfamily G member 5 transporter 91 0.602 0.414 3.5E-21 0.300 limited 3 0 2006 2018
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
P39210 MPV17, mitochondrial inner membrane protein transmembrane receptor regulatory/adaptor protein 104 0.611 0.483 1.2E-10 0.300 strong 3 0 2006 2008
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
O43933 peroxisomal biogenesis factor 1 247 0.554 0.655 3.3E-14 0.300 strong 3 0 1997 2013
Entrez Id: 10165
Gene Symbol: SLC25A13
SLC25A13
Q9UJS0 solute carrier family 25 member 13 56 0.667 0.345 2.9E-21 0.300 strong 3 0 2001 2003
Entrez Id: 51473
Gene Symbol: DCDC2
DCDC2
Q9UHG0 doublecortin domain containing 2 47 0.648 0.310 4.1E-10 0.300 strong 3 0 2015 2017
Entrez Id: 5195
Gene Symbol: PEX14
PEX14
O75381 peroxisomal biogenesis factor 14 receptor 157 0.588 0.621 0.26 0.300 strong 3 0 2004 2017
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
O00623 peroxisomal biogenesis factor 12 transfer/carrier protein 168 0.586 0.621 1.2E-15 0.300 moderate 2 0 1997 1997
Entrez Id: 64241
Gene Symbol: ABCG8
ABCG8
Q9H221 ATP binding cassette subfamily G member 8 transporter 95 0.584 0.448 2.0E-20 0.300 limited 2 0 2006 2016