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: 9200
Gene Symbol: HACD1
HACD1
B0YJ81 3-hydroxyacyl-CoA dehydratase 1 160 0.539 0.846 1.3E-09 0.100 None 0 0
Entrez Id: 7084
Gene Symbol: TK2
TK2
O00142 thymidine kinase 2 Kinase 143 0.585 0.615 3.9E-07 0.100 None 0 0
Entrez Id: 421
Gene Symbol: ARVCF
ARVCF
O00192 ARVCF delta catenin family member Cellular structure 151 0.540 0.769 5.0E-11 0.100 None 0 0
Entrez Id: 4728
Gene Symbol: NDUFS8
NDUFS8
O00217 NADH:ubiquinone oxidoreductase core subunit S8 Enzyme 85 0.636 0.538 0.17 0.100 None 0 0
Entrez Id: 5718
Gene Symbol: PSMD12
PSMD12
O00232 proteasome 26S subunit, non-ATPase 12 Enzyme modulator 105 0.578 0.808 1.00 0.100 None 0 0
Entrez Id: 7287
Gene Symbol: TULP1
TULP1
O00294 TUB like protein 1 80 0.623 0.462 5.7E-04 0.100 None 0 0
Entrez Id: 2304
Gene Symbol: FOXE1
FOXE1
O00358 forkhead box E1 Transcription factor 102 0.573 0.731 0.79 0.100 None 0 0
Entrez Id: 4697
Gene Symbol: NDUFA4
NDUFA4
O00483 NDUFA4 mitochondrial complex associated Enzyme 41 0.695 0.462 2.4E-02 0.100 None 0 0
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 320 0.489 0.769 1.00 0.100 None 1.000 46 3 1988 2017
Entrez Id: 1654
Gene Symbol: DDX3X
DDX3X
O00571 DEAD-box helicase 3 X-linked 180 0.537 0.769 1.00 0.100 None 1.000 16 8 1989 2017
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: 5191
Gene Symbol: PEX7
PEX7
O00628 peroxisomal biogenesis factor 7 100 0.603 0.615 8.2E-13 0.100 None 0 0
Entrez Id: 4125
Gene Symbol: MAN2B1
MAN2B1
O00754 mannosidase alpha class 2B member 1 66 0.674 0.462 4.8E-22 0.100 None 0 0
Entrez Id: 8289
Gene Symbol: ARID1A
ARID1A
O14497 AT-rich interaction domain 1A 341 0.455 0.846 1.00 0.100 None 0 0
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A
O14656 torsin family 1 member A Chaperone 115 0.566 0.731 5.1E-04 0.100 None 0 0
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
O14686 lysine methyltransferase 2D 320 0.465 0.808 1.00 0.100 None 1.000 25 2 1988 2017
Entrez Id: 2563
Gene Symbol: GABRD
GABRD
O14764 gamma-aminobutyric acid type A receptor subunit delta Ion channel 154 0.558 0.692 0.99 0.100 None 0 0
Entrez Id: 22808
Gene Symbol: MRAS
MRAS
O14807 muscle RAS oncogene homolog Enzyme modulator 113 0.590 0.731 0.92 0.100 None 0 0
Entrez Id: 5264
Gene Symbol: PHYH
PHYH
O14832 phytanoyl-CoA 2-hydroxylase 65 0.659 0.577 2.4E-06 0.100 None 0 0
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2
O15020 spectrin beta, non-erythrocytic 2 79 0.619 0.731 9.9E-05 0.100 None 1.000 8 1 2006 2017
Entrez Id: 9723
Gene Symbol: SEMA3E
SEMA3E
O15041 semaphorin 3E Signaling 184 0.515 0.769 8.7E-09 0.100 None 0 0
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
O15078 centrosomal protein 290 196 0.517 0.769 1.1E-60 0.100 None 0 1
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
O15118 NPC intracellular cholesterol transporter 1 Transporter 220 0.518 0.692 6.5E-06 0.100 None 1.000 7 2 1997 2012
Entrez Id: 8443
Gene Symbol: GNPAT
GNPAT
O15228 glyceronephosphate O-acyltransferase 44 0.663 0.462 0.30 0.100 None 0 0
Entrez Id: 4694
Gene Symbol: NDUFA1
NDUFA1
O15239 NADH:ubiquinone oxidoreductase subunit A1 74 0.636 0.423 0.55 0.100 None 0 0