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: 54840
Gene Symbol: APTX
APTX 		Q7Z2E3 aprataxin Nucleic acid binding 94 0.590 0.500 4.0E-10 0.100 None 1.000 1 1 2017 2017
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 1
Entrez Id: 284217
Gene Symbol: LAMA1
LAMA1 		P25391 laminin subunit alpha 1 107 0.582 0.808 3.2E-32 0.100 None 0 1
Entrez Id: 3746
Gene Symbol: KCNC1
KCNC1 		P48547 potassium voltage-gated channel subfamily C member 1 Ion channel 43 0.711 0.154 0.99 0.100 None 0 1
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		P51608 methyl-CpG binding protein 2 Epigenetic regulator 664 0.414 0.846 0.89 0.100 None 0 1
Entrez Id: 166378
Gene Symbol: SPATA5
SPATA5 		Q8NB90 spermatogenesis associated 5 75 0.670 0.654 9.1E-20 0.100 None 0 1
Entrez Id: 182
Gene Symbol: JAG1
JAG1 		P78504 jagged canonical Notch ligand 1 420 0.429 0.808 1.00 0.100 None 0 1
Entrez Id: 5813
Gene Symbol: PURA
PURA 		Q00577 purine rich element binding protein A Nucleic acid binding 83 0.644 0.500 0.94 0.100 None 0 1
Entrez Id: 5195
Gene Symbol: PEX14
PEX14 		O75381 peroxisomal biogenesis factor 14 Receptor 133 0.592 0.692 0.23 0.100 None 0 0
Entrez Id: 4591
Gene Symbol: TRIM37
TRIM37 		O94972 tripartite motif containing 37 84 0.610 0.654 9.7E-12 0.100 None 0 0
Entrez Id: 5309
Gene Symbol: PITX3
PITX3 		O75364 paired like homeodomain 3 93 0.585 0.692 0.81 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: 4578
Gene Symbol: TRNW
TRNW 		tRNA 188 0.563 0.731 0.100 None 0 0
Entrez Id: 55650
Gene Symbol: PIGV
PIGV 		Q9NUD9 phosphatidylinositol glycan anchor biosynthesis class V 100 0.636 0.615 1.5E-08 0.100 None 0 0
Entrez Id: 55670
Gene Symbol: PEX26
PEX26 		Q7Z412 peroxisomal biogenesis factor 26 132 0.584 0.615 0.93 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
Entrez Id: 57190
Gene Symbol: SELENON
SELENON 		Q9NZV5 selenoprotein N 147 0.575 0.692 9.8E-10 0.100 None 0 0
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		P68133 actin alpha 1, skeletal muscle Cellular structure 217 0.540 0.769 1.1E-06 0.100 None 0 0
Entrez Id: 4575
Gene Symbol: TRNS2
TRNS2 		tRNA 152 0.579 0.731 0.100 None 0 0
Entrez Id: 5194
Gene Symbol: PEX13
PEX13 		Q92968 peroxisomal biogenesis factor 13 132 0.597 0.654 5.9E-05 0.100 None 0 0
Entrez Id: 5193
Gene Symbol: PEX12
PEX12 		O00623 peroxisomal biogenesis factor 12 Transporter 126 0.601 0.615 9.5E-16 0.100 None 0 0
Entrez Id: 4893
Gene Symbol: NRAS
NRAS 		P01111 NRAS proto-oncogene, GTPase Enzyme modulator 611 0.390 0.808 0.49 0.100 None 0 0
Entrez Id: 4976
Gene Symbol: OPA1
OPA1 		O60313 OPA1 mitochondrial dynamin like GTPase Enzyme modulator 236 0.510 0.846 0.99 0.100 None 0 0
Entrez Id: 50484
Gene Symbol: RRM2B
RRM2B 		Q7LG56 ribonucleotide reductase regulatory TP53 inducible subunit M2B Enzyme 238 0.527 0.769 2.4E-03 0.100 None 0 0
Entrez Id: 50846
Gene Symbol: DHH
DHH 		O43323 desert hedgehog signaling molecule 57 0.650 0.423 0.22 0.100 None 0 0