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: 2697
Gene Symbol: GJA1
GJA1 		P17302 gap junction protein alpha 1 Cell-cell junction 662 0.393 0.885 0.16 0.100 None 0 0
Entrez Id: 2705
Gene Symbol: GJB1
GJB1 		P08034 gap junction protein beta 1 Cell-cell junction 224 0.514 0.731 0.85 0.100 None 0 0
Entrez Id: 2896
Gene Symbol: GRN
GRN 		P28799 granulin precursor 412 0.435 0.846 7.0E-02 0.100 None 0 0
Entrez Id: 3155
Gene Symbol: HMGCL
HMGCL 		P35914 3-hydroxy-3-methylglutaryl-CoA lyase Enzyme 75 0.691 0.462 2.6E-06 0.100 None 0 0
Entrez Id: 3064
Gene Symbol: HTT
HTT 		P42858 huntingtin 188 0.548 0.654 1.00 0.100 None 0 0
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1 		Q9BYX4 interferon induced with helicase C domain 1 319 0.471 0.808 7.0E-44 0.100 None 0 1
Entrez Id: 3735
Gene Symbol: KARS1
KARS1 		Q15046 lysyl-tRNA synthetase 1 Enzyme 62 0.636 0.577 4.2E-09 0.100 None 0 2
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		P51787 potassium voltage-gated channel subfamily Q member 1 Ion channel 281 0.485 0.769 4.5E-08 0.100 None 0 1
Entrez Id: 10749
Gene Symbol: KIF1C
KIF1C 		O43896 kinesin family member 1C Cellular structure 49 0.700 0.500 0.72 0.100 None 0 0
Entrez Id: 3912
Gene Symbol: LAMB1
LAMB1 		P07942 laminin subunit beta 1 Enzyme modulator 75 0.615 0.654 5.1E-22 0.100 None 0 0
Entrez Id: 51601
Gene Symbol: LIPT1
LIPT1 		Q9Y234 lipoyltransferase 1 Enzyme 55 0.674 0.462 3.8E-08 0.100 None 0 0
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2 		Q9UJ55 MAGE family member L2 Cell adhesion 184 0.560 0.654 0.98 0.100 None 0 1
Entrez Id: 4137
Gene Symbol: MAPT
MAPT 		P10636 microtubule associated protein tau 469 0.446 0.923 6.0E-03 0.100 None 0 0
Entrez Id: 4210
Gene Symbol: MEFV
MEFV 		O15553 MEFV innate immuity regulator, pyrin 410 0.440 0.885 1.0E-14 0.100 None 0 1
Entrez Id: 4314
Gene Symbol: MMP3
MMP3 		P08254 matrix metallopeptidase 3 Enzyme 473 0.408 0.885 5.7E-15 0.010 None 1.000 1 0 2007 2007
Entrez Id: 4318
Gene Symbol: MMP9
MMP9 		P14780 matrix metallopeptidase 9 Enzyme 1337 0.305 0.923 1.9E-17 0.010 None 1.000 1 0 2007 2007
Entrez Id: 123263
Gene Symbol: MTFMT
MTFMT 		Q96DP5 mitochondrial methionyl-tRNA formyltransferase Enzyme 101 0.595 0.808 1.5E-07 0.100 None 0 0
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		P42898 methylenetetrahydrofolate reductase 985 0.337 0.885 3.2E-10 0.010 None 1.000 1 0 2004 2004
Entrez Id: 4534
Gene Symbol: MTM1
MTM1 		Q13496 myotubularin 1 Enzyme 125 0.573 0.731 1.00 0.100 None 0 1
Entrez Id: 55739
Gene Symbol: NAXD
NAXD 		Q8IW45 NAD(P)HX dehydratase 25 0.839 0.231 7.0E-03 0.100 None 0 0
Entrez Id: 4846
Gene Symbol: NOS3
NOS3 		P29474 nitric oxide synthase 3 706 0.378 0.885 6.7E-07 0.010 None 1.000 1 0 2004 2004
Entrez Id: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11 		NPHP3-ACAD11 readthrough (NMD candidate) 82 0.663 0.577 0.100 None 0 2
Entrez Id: 5048
Gene Symbol: PAFAH1B1
PAFAH1B1 		P43034 platelet activating factor acetylhydrolase 1b regulatory subunit 1 219 0.504 0.769 1.00 0.100 None 0 0
Entrez Id: 5160
Gene Symbol: PDHA1
PDHA1 		P08559 pyruvate dehydrogenase E1 subunit alpha 1 129 0.581 0.538 0.99 0.100 None 0 1
Entrez Id: 5190
Gene Symbol: PEX6
PEX6 		Q13608 peroxisomal biogenesis factor 6 232 0.547 0.731 6.3E-06 0.100 None 0 2