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: 2592
Gene Symbol: GALT
GALT
P07902 galactose-1-phosphate uridylyltransferase Enzyme 87 0.612 0.654 2.1E-06 0.100 None 0 0
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1
P17405 sphingomyelin phosphodiesterase 1 Enzyme 247 0.499 0.885 3.9E-10 0.100 None 0 0
Entrez Id: 6309
Gene Symbol: SC5D
SC5D
O75845 sterol-C5-desaturase Enzyme 71 0.641 0.577 2.6E-03 0.100 None 0 0
Entrez Id: 9971
Gene Symbol: NR1H4
NR1H4
Q96RI1 nuclear receptor subfamily 1 group H member 4 Nuclear receptor 187 0.513 0.808 9.4E-04 0.100 None 0 0
Entrez Id: 5830
Gene Symbol: PEX5
PEX5
P50542 peroxisomal biogenesis factor 5 Transporter 174 0.561 0.731 5.6E-05 0.100 None 0 0
Entrez Id: 3594
Gene Symbol: IL12RB1
IL12RB1
P42701 interleukin 12 receptor subunit beta 1 Signaling 118 0.555 0.731 9.4E-15 0.100 None 0 0
Entrez Id: 4541
Gene Symbol: ND6
ND6
P03923 NADH dehydrogenase, subunit 6 (complex I) 224 0.544 0.808 0.100 None 0 0
Entrez Id: 3663
Gene Symbol: IRF5
IRF5
Q13568 interferon regulatory factor 5 Transcription factor 226 0.489 0.731 9.0E-03 0.100 None 0 0
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
P28328 peroxisomal biogenesis factor 2 152 0.582 0.654 2.6E-04 0.100 None 0 0
Entrez Id: 5825
Gene Symbol: ABCD3
ABCD3
P28288 ATP binding cassette subfamily D member 3 Transporter 23 0.751 0.423 7.8E-03 0.100 None 0 0
Entrez Id: 5824
Gene Symbol: PEX19
PEX19
P40855 peroxisomal biogenesis factor 19 Storage 134 0.585 0.731 3.2E-04 0.100 None 0 0
Entrez Id: 378884
Gene Symbol: NHLRC1
NHLRC1
Q6VVB1 NHL repeat containing E3 ubiquitin protein ligase 1 56 0.656 0.423 9.4E-02 0.100 None 0 0
Entrez Id: 56244
Gene Symbol: BTNL2
BTNL2
Q9UIR0 butyrophilin like 2 Enzyme modulator 145 0.546 0.808 8.6E-11 0.100 None 0 0
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
Q9BT22 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase Enzyme 95 0.610 0.808 3.6E-19 0.100 None 0 0
Entrez Id: 29929
Gene Symbol: ALG6
ALG6
Q9Y672 ALG6 alpha-1,3-glucosyltransferase Enzyme 20 0.805 0.231 3.1E-04 0.100 None 0 0
Entrez Id: 3592
Gene Symbol: IL12A
IL12A
P29459 interleukin 12A 261 0.491 0.808 4.7E-02 0.100 None 0 0
Entrez Id: 6689
Gene Symbol: SPIB
SPIB
Q01892 Spi-B transcription factor Transcription factor 58 0.628 0.538 0.91 0.100 None 0 0
Entrez Id: 26160
Gene Symbol: IFT172
IFT172
Q9UG01 intraflagellar transport 172 Cellular structure 123 0.582 0.654 3.3E-33 0.100 None 0 0
Entrez Id: 26191
Gene Symbol: PTPN22
PTPN22
Q9Y2R2 protein tyrosine phosphatase non-receptor type 22 400 0.438 0.846 3.5E-21 0.100 None 0 0
Entrez Id: 26277
Gene Symbol: TINF2
TINF2
Q9BSI4 TERF1 interacting nuclear factor 2 158 0.575 0.731 1.3E-03 0.100 None 0 0
Entrez Id: 2629
Gene Symbol: GBA
GBA
P04062 glucosylceramidase beta 319 0.500 0.808 1.4E-06 0.100 None 0 0
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
Q04446 1,4-alpha-glucan branching enzyme 1 Enzyme 102 0.612 0.654 1.1E-12 0.100 None 0 0
Entrez Id: 2658
Gene Symbol: GDF2
GDF2
Q9UK05 growth differentiation factor 2 Signaling 152 0.529 0.731 2.5E-03 0.100 None 0 0
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2
Q96G97 BSCL2 lipid droplet biogenesis associated, seipin 221 0.545 0.692 1.1E-09 0.100 None 0 0
Entrez Id: 27235
Gene Symbol: COQ2
COQ2
Q96H96 coenzyme Q2, polyprenyltransferase Enzyme 139 0.590 0.731 1.3E-03 0.100 None 0 0