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: 513
Gene Symbol: ATP5F1D
ATP5F1D
P30049 ATP synthase F1 subunit delta Transporter 69 0.674 0.500 7.4E-02 0.100 None 1.000 1 1 2018 2018
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2
P78381 solute carrier family 35 member A2 Transporter 197 0.525 0.808 0.72 0.100 None 1.000 1 1 2019 2019
Entrez Id: 10847
Gene Symbol: SRCAP
SRCAP
Q6ZRS2 Snf2 related CREBBP activator protein 118 0.610 0.731 1.00 0.100 None 0 1
Entrez Id: 6016
Gene Symbol: RIT1
RIT1
Q92963 Ras like without CAAX 1 Enzyme modulator 184 0.527 0.808 0.13 0.100 None 0 1
Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL
Q9H1B7 interferon regulatory factor 2 binding protein like 120 0.631 0.462 0.84 0.100 None 0 1
Entrez Id: 7486
Gene Symbol: WRN
WRN
Q14191 WRN RecQ like helicase Enzyme 172 0.524 0.808 2.6E-34 0.100 None 0 1
Entrez Id: 79641
Gene Symbol: ROGDI
ROGDI
Q9GZN7 rogdi atypical leucine zipper 61 0.663 0.462 2.6E-09 0.100 None 0 2
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
Q9H9B1 euchromatic histone lysine methyltransferase 1 Epigenetic regulator 371 0.460 0.808 1.00 0.100 None 0 1
Entrez Id: 9320
Gene Symbol: TRIP12
TRIP12
Q14669 thyroid hormone receptor interactor 12 81 0.678 0.462 1.00 0.100 None 0 1
Entrez Id: 9757
Gene Symbol: KMT2B
KMT2B
Q9UMN6 lysine methyltransferase 2B 193 0.529 0.808 1.00 0.100 None 0 1
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Q06124 protein tyrosine phosphatase non-receptor type 11 702 0.385 0.923 1.00 0.100 None 0 1
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
Q13635 patched 1 604 0.398 0.885 1.00 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
Entrez Id: 1161
Gene Symbol: ERCC8
ERCC8
Q13216 ERCC excision repair 8, CSA ubiquitin ligase complex subunit 175 0.551 0.885 2.8E-15 0.100 None 0 1
Entrez Id: 118429
Gene Symbol: ANTXR2
ANTXR2
P58335 ANTXR cell adhesion molecule 2 Receptor 143 0.568 0.808 8.7E-02 0.100 None 0 1
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
Q02388 collagen type VII alpha 1 chain Receptor 160 0.545 0.808 2.4E-40 0.100 None 0 2
Entrez Id: 1756
Gene Symbol: DMD
DMD
P11532 dystrophin 484 0.423 0.923 1.00 0.100 None 0 1
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 212 0.533 0.769 1.00 0.100 None 0 1
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
P55316 forkhead box G1 224 0.522 0.692 0.94 0.100 None 0 1
Entrez Id: 4285
Gene Symbol: MIPEP
MIPEP
Q99797 mitochondrial intermediate peptidase Enzyme 69 0.666 0.615 1.6E-15 0.100 None 0 1
Entrez Id: 50485
Gene Symbol: SMARCAL1
SMARCAL1
Q9NZC9 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 109 0.599 0.654 2.3E-06 0.100 None 0 2
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
O95140 mitofusin 2 Enzyme 334 0.471 0.846 0.99 0.100 None 0 1