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: 19
Gene Symbol: ABCA1
ABCA1
O95477 ATP binding cassette subfamily A member 1 Transporter 291 0.467 0.846 1.5E-13 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: 57724
Gene Symbol: EPG5
EPG5
Q9HCE0 ectopic P-granules autophagy protein 5 homolog 94 0.623 0.769 1.4E-13 0.100 None 0 0
Entrez Id: 26229
Gene Symbol: B3GAT3
B3GAT3
O94766 beta-1,3-glucuronyltransferase 3 Enzyme 75 0.621 0.538 2.7E-08 0.100 None 0 0
Entrez Id: 582
Gene Symbol: BBS1
BBS1
Q8NFJ9 Bardet-Biedl syndrome 1 111 0.593 0.692 3.4E-12 0.100 None 0 0
Entrez Id: 1837
Gene Symbol: DTNA
DTNA
Q9Y4J8 dystrobrevin alpha 35 0.695 0.385 0.63 0.100 None 0 0
Entrez Id: 4841
Gene Symbol: NONO
NONO
Q15233 non-POU domain containing octamer binding Nucleic acid binding 142 0.554 0.731 0.99 0.100 None 0 0
Entrez Id: 4634
Gene Symbol: MYL3
MYL3
P08590 myosin light chain 3 Calcium-binding protein 37 0.695 0.308 8.8E-02 0.100 None 0 0
Entrez Id: 4633
Gene Symbol: MYL2
MYL2
P10916 myosin light chain 2 Calcium-binding protein 104 0.601 0.615 2.7E-08 0.100 None 0 0
Entrez Id: 4558
Gene Symbol: TRNF
TRNF
tRNA 148 0.582 0.731 0.100 None 0 0
Entrez Id: 4541
Gene Symbol: ND6
ND6
P03923 NADH dehydrogenase, subunit 6 (complex I) 224 0.544 0.808 0.100 None 0 0
Entrez Id: 10290
Gene Symbol: SPEG
SPEG
Q15772 striated muscle enriched protein kinase Kinase 52 0.686 0.385 0.92 0.100 None 0 0
Entrez Id: 4540
Gene Symbol: ND5
ND5
P03915 NADH dehydrogenase, subunit 5 (complex I) Enzyme 241 0.531 0.769 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: 4513
Gene Symbol: COX2
COX2
P00403 cytochrome c oxidase subunit II Enzyme 875 0.352 0.962 0.100 None 0 0
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24
O75844 zinc metallopeptidase STE24 Enzyme 265 0.517 0.731 8.9E-16 0.100 None 0 0
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
Q9H9S5 fukutin related protein 248 0.513 0.731 9.8E-06 0.100 None 0 0
Entrez Id: 4512
Gene Symbol: COX1
COX1
P00395 cytochrome c oxidase subunit I Enzyme 421 0.441 0.885 0.100 None 0 0
Entrez Id: 9049
Gene Symbol: AIP
AIP
O00170 aryl hydrocarbon receptor interacting protein Chaperone 216 0.517 0.769 0.36 0.100 None 0 0
Entrez Id: 4511
Gene Symbol: TRNC
TRNC
tRNA 28 0.751 0.346 0.100 None 0 0
Entrez Id: 91624
Gene Symbol: NEXN
NEXN
Q0ZGT2 nexilin F-actin binding protein 36 0.695 0.269 3.9E-11 0.100 None 0 0
Entrez Id: 10585
Gene Symbol: POMT1
POMT1
Q9Y6A1 protein O-mannosyltransferase 1 223 0.525 0.615 4.2E-17 0.100 None 0 0
Entrez Id: 10529
Gene Symbol: NEBL
NEBL
O76041 nebulette 48 0.650 0.692 1.8E-36 0.100 None 0 1
Entrez Id: 9469
Gene Symbol: CHST3
CHST3
Q7LGC8 carbohydrate sulfotransferase 3 214 0.517 0.846 7.2E-03 0.100 None 0 0
Entrez Id: 4088
Gene Symbol: SMAD3
SMAD3
P84022 SMAD family member 3 Transcription factor 470 0.415 0.923 0.80 0.100 None 0 0