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: 2260
Gene Symbol: FGFR1
FGFR1 		P11362 fibroblast growth factor receptor 1 Kinase 816 0.362 0.885 1.00 0.100 None 0 0
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		P51608 methyl-CpG binding protein 2 Epigenetic regulator 664 0.414 0.846 0.89 0.400 None 1.000 1 0 2010 2010
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2 		P18074 ERCC excision repair 2, TFIIH core complex helicase subunit Enzyme 499 0.420 0.846 7.1E-20 0.100 None 0 0
Entrez Id: 652
Gene Symbol: BMP4
BMP4 		P12644 bone morphogenetic protein 4 Signaling 423 0.422 0.808 0.96 0.100 None 0 0
Entrez Id: 1392
Gene Symbol: CRH
CRH 		P06850 corticotropin releasing hormone Signaling 402 0.439 0.808 0.72 0.300 None 1.000 1 0 1992 1992
Entrez Id: 2629
Gene Symbol: GBA
GBA 		P04062 glucosylceramidase beta 319 0.500 0.808 1.4E-06 0.100 None 0 0
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3 		P51812 ribosomal protein S6 kinase A3 Kinase 315 0.491 0.846 1.00 0.300 None 1.000 1 0 1996 1996
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		P35498 sodium voltage-gated channel alpha subunit 1 Ion channel 287 0.477 0.808 1.00 0.100 None 0 0
Entrez Id: 29968
Gene Symbol: PSAT1
PSAT1 		Q9Y617 phosphoserine aminotransferase 1 285 0.478 0.846 1.1E-08 0.100 None 0 0
Entrez Id: 8792
Gene Symbol: TNFRSF11A
TNFRSF11A 		Q9Y6Q6 TNF receptor superfamily member 11a 270 0.480 0.846 8.8E-03 0.100 None 0 0
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6 		P0DP91 Q03468 ERCC excision repair 6, chromatin remodeling factor 257 0.507 0.808 5.2E-22 0.300 None 1.000 1 0 2008 2008
Entrez Id: 2643
Gene Symbol: GCH1
GCH1 		P30793 GTP cyclohydrolase 1 Enzyme 254 0.511 0.846 0.90 0.100 None 0 0
Entrez Id: 2071
Gene Symbol: ERCC3
ERCC3 		P19447 ERCC excision repair 3, TFIIH core complex helicase subunit Enzyme 253 0.504 0.846 3.4E-11 0.100 None 0 0
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1 		P17405 sphingomyelin phosphodiesterase 1 Enzyme 247 0.499 0.885 3.9E-10 0.100 None 0 0
Entrez Id: 6389
Gene Symbol: SDHA
SDHA 		P31040 succinate dehydrogenase complex flavoprotein subunit A Enzyme 246 0.517 0.731 2.6E-10 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: 5189
Gene Symbol: PEX1
PEX1 		O43933 peroxisomal biogenesis factor 1 235 0.538 0.769 1.1E-14 0.100 None 0 0
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		Q99250 sodium voltage-gated channel alpha subunit 2 Ion channel 232 0.518 0.731 1.00 0.100 None 0 0
Entrez Id: 10128
Gene Symbol: LRPPRC
LRPPRC 		P42704 leucine rich pentatricopeptide repeat containing 220 0.493 0.769 2.3E-10 0.100 None 0 0
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24 		Q9ULP9 TBC1 domain family member 24 Enzyme modulator 218 0.530 0.808 1.3E-08 0.100 None 0 0
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67 		Q5HYA8 transmembrane protein 67 215 0.512 0.769 2.1E-24 0.100 None 0 0
Entrez Id: 5373
Gene Symbol: PMM2
PMM2 		O15305 phosphomannomutase 2 Enzyme 214 0.535 0.769 1.4E-17 0.100 None 0 2
Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A 		Q15858 sodium voltage-gated channel alpha subunit 9 Ion channel 213 0.543 0.615 4.8E-19 0.100 None 0 0
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1 		P61764 syntaxin binding protein 1 Transporter 213 0.532 0.692 1.00 0.100 None 0 0
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B 		Q8WYB5 lysine acetyltransferase 6B Enzyme 208 0.525 0.731 1.00 0.100 None 0 0