Source: ALL
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: 3141
Gene Symbol: HLCS
HLCS 		P50747 holocarboxylase synthetase Enzyme 63 0.650 0.654 1.9E-08 0.100 None 0 0
Entrez Id: 89910
Gene Symbol: UBE3B
UBE3B 		Q7Z3V4 ubiquitin protein ligase E3B 119 0.590 0.692 4.2E-08 0.100 None 0 0
Entrez Id: 79631
Gene Symbol: EFL1
EFL1 		Q7Z2Z2 elongation factor like GTPase 1 Enzyme 73 0.638 0.577 5.1E-08 0.100 None 0 1
Entrez Id: 6904
Gene Symbol: TBCD
TBCD 		Q9BTW9 tubulin folding cofactor D Cellular structure 129 0.599 0.615 1.0E-07 0.100 None 0 0
Entrez Id: 686
Gene Symbol: BTD
BTD 		P43251 biotinidase Enzyme 90 0.628 0.654 1.5E-07 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: 55180
Gene Symbol: LINS1
LINS1 		Q8NG48 lines homolog 1 49 0.691 0.231 2.4E-07 0.100 None 0 0
Entrez Id: 1716
Gene Symbol: DGUOK
DGUOK 		Q16854 deoxyguanosine kinase Kinase 112 0.593 0.500 3.7E-07 0.100 None 0 0
Entrez Id: 7516
Gene Symbol: XRCC2
XRCC2 		O43543 X-ray repair cross complementing 2 187 0.512 0.731 4.0E-07 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: 7259
Gene Symbol: TSPYL1
TSPYL1 		Q9H0U9 TSPY like 1 Enzyme modulator 42 0.705 0.500 5.6E-07 0.100 None 0 0
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB 		P05062 aldolase, fructose-bisphosphate B 80 0.623 0.538 7.9E-07 0.100 None 0 0
Entrez Id: 7518
Gene Symbol: XRCC4
XRCC4 		Q13426 X-ray repair cross complementing 4 192 0.528 0.769 8.3E-07 0.100 None 0 0
Entrez Id: 4337
Gene Symbol: MOCS1
MOCS1 		Q9NZB8 molybdenum cofactor synthesis 1 44 0.743 0.231 9.1E-07 0.100 None 0 0
Entrez Id: 3981
Gene Symbol: LIG4
LIG4 		P49917 DNA ligase 4 293 0.478 0.846 4.2E-06 0.100 None 0 0
Entrez Id: 92579
Gene Symbol: G6PC3
G6PC3 		Q9BUM1 glucose-6-phosphatase catalytic subunit 3 79 0.606 0.731 4.7E-06 0.100 None 0 0
Entrez Id: 80224
Gene Symbol: NUBPL
NUBPL 		Q8TB37 nucleotide binding protein like 77 0.670 0.423 1.1E-05 0.100 None 0 0
Entrez Id: 284098
Gene Symbol: PIGW
PIGW 		Q7Z7B1 phosphatidylinositol glycan anchor biosynthesis class W Enzyme 81 0.633 0.654 1.2E-05 0.100 None 0 0
Entrez Id: 56945
Gene Symbol: MRPS22
MRPS22 		P82650 mitochondrial ribosomal protein S22 78 0.638 0.500 1.5E-05 0.100 None 0 0
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		P22607 fibroblast growth factor receptor 3 Kinase 654 0.391 0.846 1.6E-05 0.100 None 0 1
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: 1588
Gene Symbol: CYP19A1
CYP19A1 		P11511 cytochrome P450 family 19 subfamily A member 1 Enzyme 519 0.410 0.885 1.7E-05 0.100 None 0 0
Entrez Id: 55823
Gene Symbol: VPS11
VPS11 		Q9H270 VPS11 core subunit of CORVET and HOPS complexes Transporter 79 0.633 0.654 1.9E-05 0.100 None 0 0
Entrez Id: 11019
Gene Symbol: LIAS
LIAS 		O43766 lipoic acid synthetase 43 0.695 0.538 2.3E-05 0.100 None 0 0
Entrez Id: 4882
Gene Symbol: NPR2
NPR2 		P20594 natriuretic peptide receptor 2 Kinase 122 0.573 0.615 4.2E-05 0.100 None 0 2