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: 7389
Gene Symbol: UROD
UROD
P06132 uroporphyrinogen decarboxylase 166 0.521 0.769 1.3E-08 0.100 None 0 0
Entrez Id: 23592
Gene Symbol: LEMD3
LEMD3
Q9Y2U8 LEM domain containing 3 112 0.582 0.731 1.00 0.100 None 0 0
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
P55017 solute carrier family 12 member 3 Transporter 252 0.493 0.808 3.0E-32 0.100 None 0 0
Entrez Id: 3077
Gene Symbol: HFE
HFE
Q30201 homeostatic iron regulator 415 0.436 0.846 2.6E-08 0.100 None 0 0
Entrez Id: 7390
Gene Symbol: UROS
UROS
P10746 uroporphyrinogen III synthase Enzyme 58 0.678 0.462 3.2E-02 0.100 None 0 0
Entrez Id: 64132
Gene Symbol: XYLT2
XYLT2
Q9H1B5 xylosyltransferase 2 138 0.566 0.808 0.93 0.300 limited 0 0
Entrez Id: 5424
Gene Symbol: POLD1
POLD1
P28340 DNA polymerase delta 1, catalytic subunit 189 0.507 0.769 2.4E-06 0.100 None 0 0
Entrez Id: 55315
Gene Symbol: SLC29A3
SLC29A3
Q9BZD2 solute carrier family 29 member 3 Transporter 123 0.578 0.769 1.3E-07 0.100 None 0 0
Entrez Id: 1188
Gene Symbol: CLCNKB
CLCNKB
P51801 chloride voltage-gated channel Kb Ion channel 139 0.593 0.692 1.4E-22 0.100 None 0 0
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
P35555 fibrillin 1 Calcium-binding protein 552 0.417 0.846 1.00 0.300 None 0.971 34 0 1980 2013
Entrez Id: 26039
Gene Symbol: SS18L1
SS18L1
O75177 SS18L1 subunit of BAF chromatin remodeling complex Nucleic acid binding 35 0.670 0.538 0.98 0.100 None 0.909 11 0 1983 2018
Entrez Id: 5063
Gene Symbol: PAK3
PAK3
O75914 p21 (RAC1) activated kinase 3 Kinase 134 0.569 0.731 0.99 0.010 None 1.000 1 0 1984 1984
Entrez Id: 2296
Gene Symbol: FOXC1
FOXC1
Q12948 forkhead box C1 Transcription factor 242 0.483 0.846 0.95 0.010 None 1.000 1 0 1984 1984
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6
O95255 ATP binding cassette subfamily C member 6 Transporter 181 0.540 0.654 5.6E-35 0.010 None 1.000 1 0 1984 1984
Entrez Id: 5236
Gene Symbol: PGM1
PGM1
P36871 phosphoglucomutase 1 72 0.628 0.577 5.1E-15 0.010 None 1.000 1 0 1985 1985
Entrez Id: 3439
Gene Symbol: IFNA1
IFNA1
P01562 interferon alpha 1 662 0.371 0.923 0.090 None 1.000 9 0 1986 2019
Entrez Id: 3447
Gene Symbol: IFNA13
IFNA13
P01562 interferon alpha 13 646 0.374 0.923 0.090 None 1.000 9 0 1986 2019
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
P01009 serpin family A member 1 Enzyme modulator 482 0.410 0.923 6.8E-08 0.010 None 1.000 1 0 1986 1986
Entrez Id: 2335
Gene Symbol: FN1
FN1
P02751 fibronectin 1 Signaling 724 0.365 0.962 1.4E-03 0.100 None 1.000 19 0 1987 2019
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2
P08123 collagen type I alpha 2 chain 271 0.486 0.846 1.00 0.400 None 1.000 18 0 1987 2014
Entrez Id: 55599
Gene Symbol: RNPC3
RNPC3
Q96LT9 RNA binding region (RNP1, RRM) containing 3 73 0.608 0.731 2.0E-04 0.100 None 0.909 11 0 1987 2019
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
P02461 collagen type III alpha 1 chain 301 0.477 0.808 1.00 0.210 None 1.000 3 0 1987 2015
Entrez Id: 3458
Gene Symbol: IFNG
IFNG
P01579 interferon gamma 1519 0.288 0.962 0.47 0.100 None 0.941 17 0 1988 2019
Entrez Id: 4609
Gene Symbol: MYC
MYC
P01106 MYC proto-oncogene, bHLH transcription factor Transcription factor 821 0.344 0.923 1.00 0.010 None 1.000 1 0 1988 1988
Entrez Id: 7150
Gene Symbol: TOP1
TOP1
P11387 DNA topoisomerase I Enzyme 143 0.542 0.692 1.00 0.090 None 0.889 9 0 1989 2018