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: 5896
Gene Symbol: RAG1
RAG1
P15918 recombination activating 1 Enzyme 209 0.509 0.769 2.8E-05 0.100 None 0 0
Entrez Id: 55858
Gene Symbol: TMEM165
TMEM165
Q9HC07 transmembrane protein 165 Transporter 37 0.711 0.385 0.28 0.100 None 0 0
Entrez Id: 5580
Gene Symbol: PRKCD
PRKCD
Q05655 protein kinase C delta Kinase 287 0.480 0.846 1.00 0.100 None 0 0
Entrez Id: 55768
Gene Symbol: NGLY1
NGLY1
Q96IV0 N-glycanase 1 Enzyme 149 0.601 0.654 1.5E-13 0.100 None 0 0
Entrez Id: 55687
Gene Symbol: TRMU
TRMU
O75648 tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase 50 0.716 0.385 1.5E-16 0.100 None 0 0
Entrez Id: 55532
Gene Symbol: SLC30A10
SLC30A10
Q6XR72 solute carrier family 30 member 10 Transporter 120 0.578 0.654 0.98 0.100 None 0 0
Entrez Id: 55252
Gene Symbol: ASXL2
ASXL2
Q76L83 ASXL transcriptional regulator 2 89 0.617 0.692 1.00 0.100 None 0 1
Entrez Id: 55240
Gene Symbol: STEAP3
STEAP3
Q658P3 STEAP3 metalloreductase 48 0.666 0.385 5.3E-09 0.100 None 0 0
Entrez Id: 54931
Gene Symbol: TRMT10C
TRMT10C
Q7L0Y3 tRNA methyltransferase 10C, mitochondrial RNase P subunit 14 0.839 0.154 9.7E-05 0.100 None 0 0
Entrez Id: 5468
Gene Symbol: PPARG
PPARG
P37231 peroxisome proliferator activated receptor gamma Nuclear receptor 877 0.358 0.885 2.9E-02 0.100 None 0 0
Entrez Id: 546
Gene Symbol: ATRX
ATRX
P46100 ATRX chromatin remodeler 412 0.452 0.808 1.00 0.100 None 0 0
Entrez Id: 54344
Gene Symbol: DPM3
DPM3
Q9P2X0 dolichyl-phosphate mannosyltransferase subunit 3, regulatory 32 0.839 0.308 0.23 0.100 None 0 0
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
P07477 serine protease 1 Enzyme 117 0.563 0.692 4.1E-11 0.100 None 0 0
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E
Q9NRR6 inositol polyphosphate-5-phosphatase E 153 0.561 0.615 3.1E-03 0.100 None 0 0
Entrez Id: 5836
Gene Symbol: PYGL
PYGL
P06737 glycogen phosphorylase L Enzyme 32 0.705 0.423 1.7E-17 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: 57817
Gene Symbol: HAMP
HAMP
P81172 hepcidin antimicrobial peptide 377 0.433 0.846 8.2E-03 0.100 None 0 0
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A
Q9P2K1 coiled-coil and C2 domain containing 2A 167 0.532 0.692 1.7E-27 0.100 None 0 0
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
Q9P2L0 WD repeat domain 35 188 0.525 0.692 1.0E-22 0.100 None 0 0
Entrez Id: 57104
Gene Symbol: PNPLA2
PNPLA2
Q96AD5 patatin like phospholipase domain containing 2 Enzyme 199 0.511 0.846 4.1E-03 0.100 None 0 0
Entrez Id: 5698
Gene Symbol: PSMB9
PSMB9
P28065 proteasome 20S subunit beta 9 167 0.514 0.808 2.7E-03 0.100 None 0 0
Entrez Id: 5696
Gene Symbol: PSMB8
PSMB8
P28062 proteasome 20S subunit beta 8 165 0.533 0.808 2.2E-02 0.100 None 0 0
Entrez Id: 5692
Gene Symbol: PSMB4
PSMB4
P28070 proteasome 20S subunit beta 4 52 0.659 0.615 2.6E-03 0.100 None 0 0
Entrez Id: 56652
Gene Symbol: TWNK
TWNK
Q96RR1 twinkle mtDNA helicase Enzyme 245 0.516 0.692 3.2E-03 0.100 None 0 0