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: 3257
Gene Symbol: HPS1
HPS1
Q92902 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 64 0.636 0.692 1.3E-07 0.100 None 0 0
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1
P00492 hypoxanthine phosphoribosyltransferase 1 Enzyme 210 0.500 0.808 0.94 0.100 None 0 0
Entrez Id: 59344
Gene Symbol: ALOXE3
ALOXE3
Q9BYJ1 arachidonate lipoxygenase 3 Enzyme 61 0.644 0.538 5.1E-20 0.100 None 0 0
Entrez Id: 3209
Gene Symbol: HOXA13
HOXA13
P31271 homeobox A13 126 0.552 0.654 0.96 0.100 None 0 0
Entrez Id: 3145
Gene Symbol: HMBS
HMBS
P08397 hydroxymethylbilane synthase Enzyme 140 0.559 0.731 0.95 0.100 None 0 0
Entrez Id: 3115
Gene Symbol: HLA-DPB1
HLA-DPB1
P04440 major histocompatibility complex, class II, DP beta 1 Immune response 324 0.453 0.923 5.3E-10 0.100 None 0 0
Entrez Id: 5982
Gene Symbol: RFC2
RFC2
P35250 replication factor C subunit 2 Enzyme 206 0.520 0.769 2.2E-06 0.100 None 0 0
Entrez Id: 27031
Gene Symbol: NPHP3
NPHP3
Q7Z494 nephrocystin 3 93 0.597 0.654 9.8E-16 0.100 None 0 0
Entrez Id: 65062
Gene Symbol: TMEM237
TMEM237
Q96Q45 transmembrane protein 237 91 0.612 0.538 1.9E-12 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: 6925
Gene Symbol: TCF4
TCF4
P15884 transcription factor 4 Transcription factor 378 0.464 0.846 1.00 0.100 None 0 0
Entrez Id: 7051
Gene Symbol: TGM1
TGM1
P22735 transglutaminase 1 Enzyme 117 0.565 0.769 2.3E-13 0.100 None 0 0
Entrez Id: 712
Gene Symbol: C1QA
C1QA
P02745 complement C1q A chain 88 0.623 0.654 3.8E-03 0.100 None 0 0
Entrez Id: 23322
Gene Symbol: RPGRIP1L
RPGRIP1L
Q68CZ1 RPGRIP1 like Enzyme modulator 170 0.534 0.769 4.1E-31 0.100 None 0 0
Entrez Id: 715
Gene Symbol: C1R
C1R
P00736 complement C1r Enzyme 96 0.638 0.654 0.78 0.100 None 0 0
Entrez Id: 23090
Gene Symbol: ZNF423
ZNF423
Q2M1K9 zinc finger protein 423 97 0.592 0.808 1.00 0.100 None 0 0
Entrez Id: 720
Gene Symbol: C4A
C4A
P0C0L4 P0C0L5 complement C4A (Rodgers blood group) Enzyme modulator 145 0.563 0.769 1.5E-11 0.100 None 0 0
Entrez Id: 2189
Gene Symbol: FANCG
FANCG
O15287 FA complementation group G 132 0.556 0.769 2.5E-14 0.100 None 0 0
Entrez Id: 2188
Gene Symbol: FANCF
FANCF
Q9NPI8 FA complementation group F 153 0.535 0.731 0.46 0.100 None 0 0
Entrez Id: 2187
Gene Symbol: FANCB
FANCB
Q8NB91 FA complementation group B 278 0.468 0.769 1.00 0.100 None 0 0
Entrez Id: 2184
Gene Symbol: FAH
FAH
P16930 fumarylacetoacetate hydrolase 78 0.612 0.538 4.0E-17 0.100 None 0 0
Entrez Id: 2182
Gene Symbol: ACSL4
ACSL4
O60488 acyl-CoA synthetase long chain family member 4 Enzyme 136 0.561 0.769 0.98 0.100 None 0 0
Entrez Id: 2178
Gene Symbol: FANCE
FANCE
Q9HB96 FA complementation group E 144 0.553 0.808 1.5E-06 0.100 None 0 0
Entrez Id: 6820
Gene Symbol: SULT2B1
SULT2B1
O00204 sulfotransferase family 2B member 1 59 0.641 0.538 0.44 0.100 None 0 0
Entrez Id: 23607
Gene Symbol: CD2AP
CD2AP
Q9Y5K6 CD2 associated protein 113 0.558 0.731 0.23 0.100 None 0 0