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: 10020
Gene Symbol: GNE
GNE
Q9Y223 glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase Enzyme 118 0.610 0.692 2.5E-16 0.100 None 0 0
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
P38571 lipase A, lysosomal acid type Enzyme 130 0.564 0.654 5.5E-07 0.100 None 0 0
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
Q03164 lysine methyltransferase 2A 535 0.410 0.885 1.00 0.100 None 0 1
Entrez Id: 50485
Gene Symbol: SMARCAL1
SMARCAL1
Q9NZC9 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 109 0.599 0.654 2.3E-06 0.100 None 0 0
Entrez Id: 51098
Gene Symbol: IFT52
IFT52
Q9Y366 intraflagellar transport 52 67 0.653 0.538 2.0E-06 0.100 None 0 0
Entrez Id: 55764
Gene Symbol: IFT122
IFT122
Q9HBG6 intraflagellar transport 122 135 0.560 0.846 2.4E-24 0.100 None 0 0
Entrez Id: 5745
Gene Symbol: PTH1R
PTH1R
Q03431 parathyroid hormone 1 receptor G-protein coupled receptor 187 0.544 0.731 0.57 0.100 None 0 0
Entrez Id: 579
Gene Symbol: NKX3-2
NKX3-2
P78367 NK3 homeobox 2 Transcription factor 31 0.736 0.308 0.64 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: 7421
Gene Symbol: VDR
VDR
P11473 vitamin D receptor Nuclear receptor 852 0.352 0.885 1.7E-05 0.100 None 0 0
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB
Q3T906 N-acetylglucosamine-1-phosphate transferase subunits alpha and beta 139 0.592 0.731 7.7E-19 0.100 None 0 0
Entrez Id: 3636
Gene Symbol: INPPL1
INPPL1
O15357 inositol polyphosphate phosphatase like 1 133 0.590 0.769 2.3E-03 0.100 None 0 0
Entrez Id: 3190
Gene Symbol: HNRNPK
HNRNPK
P61978 heterogeneous nuclear ribonucleoprotein K Enzyme 185 0.539 0.846 1.00 0.100 None 0 1
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: 120227
Gene Symbol: CYP2R1
CYP2R1
Q6VVX0 cytochrome P450 family 2 subfamily R member 1 139 0.563 0.731 3.8E-10 0.100 None 0 0
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
P02458 collagen type II alpha 1 chain 496 0.444 0.846 1.00 0.100 None 0 0
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1
P12107 collagen type XI alpha 1 chain 268 0.495 0.846 1.00 0.100 None 0 0
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
P13942 collagen type XI alpha 2 chain 399 0.435 0.846 0.70 0.100 None 0 0
Entrez Id: 1594
Gene Symbol: CYP27B1
CYP27B1
O15528 cytochrome P450 family 27 subfamily B member 1 Enzyme 229 0.502 0.769 1.9E-07 0.100 None 0 0
Entrez Id: 168667
Gene Symbol: BMPER
BMPER
Q8N8U9 BMP binding endothelial regulator Enzyme modulator 75 0.641 0.577 6.6E-07 0.100 None 0 0
Entrez Id: 1836
Gene Symbol: SLC26A2
SLC26A2
P50443 solute carrier family 26 member 2 Transporter 198 0.553 0.692 7.5E-07 0.100 None 0 0
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
P42345 mechanistic target of rapamycin kinase Kinase 960 0.343 0.885 1.00 0.100 None 0 0
Entrez Id: 2538
Gene Symbol: G6PC
G6PC
P35575 glucose-6-phosphatase catalytic subunit 132 0.560 0.692 1.8E-05 0.100 None 0 0
Entrez Id: 2542
Gene Symbol: SLC37A4
SLC37A4
O43826 solute carrier family 37 member 4 Transporter 73 0.617 0.654 1.7E-05 0.100 None 0 0
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
Q15643 thyroid hormone receptor interactor 11 148 0.595 0.654 1.7E-12 0.100 None 0 0