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: 51412
Gene Symbol: ACTL6B
ACTL6B
O94805 actin like 6B Cellular structure 100 0.656 0.462 2.8E-04 0.100 None 1.000 1 1 2019 2019
Entrez Id: 9997
Gene Symbol: SCO2
SCO2
O43819 synthesis of cytochrome C oxidase 2 Enzyme 294 0.479 0.846 7.5E-07 0.100 None 0 0
Entrez Id: 55690
Gene Symbol: PACS1
PACS1
Q6VY07 phosphofurin acidic cluster sorting protein 1 109 0.603 0.615 1.00 0.100 None 0 0
Entrez Id: 55605
Gene Symbol: KIF21A
KIF21A
Q7Z4S6 kinesin family member 21A Cellular structure 48 0.653 0.423 2.9E-08 0.100 None 0 0
Entrez Id: 55252
Gene Symbol: ASXL2
ASXL2
Q76L83 ASXL transcriptional regulator 2 89 0.617 0.692 1.00 0.100 None 0 1
Entrez Id: 55209
Gene Symbol: SETD5
SETD5
Q9C0A6 SET domain containing 5 161 0.560 0.731 1.00 0.100 None 0 0
Entrez Id: 546
Gene Symbol: ATRX
ATRX
P46100 ATRX chromatin remodeler 412 0.452 0.808 1.00 0.100 None 0 0
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
Q15149 plectin Cellular structure 218 0.523 0.808 8.3E-12 0.100 None 0 0
Entrez Id: 5325
Gene Symbol: PLAGL1
PLAGL1
Q9UM63 PLAG1 like zinc finger 1 130 0.566 0.769 0.98 0.100 None 0 0
Entrez Id: 5053
Gene Symbol: PAH
PAH
P00439 phenylalanine hydroxylase 219 0.516 0.769 6.4E-23 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: 55768
Gene Symbol: NGLY1
NGLY1
Q96IV0 N-glycanase 1 Enzyme 149 0.601 0.654 1.5E-13 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 1
Entrez Id: 57061
Gene Symbol: HYMAI
HYMAI
hydatidiform mole associated and imprinted 61 0.670 0.538 0.100 None 0 0
Entrez Id: 8869
Gene Symbol: ST3GAL5
ST3GAL5
Q9UNP4 ST3 beta-galactoside alpha-2,3-sialyltransferase 5 78 0.650 0.654 1.3E-03 0.100 None 0 0
Entrez Id: 8292
Gene Symbol: COLQ
COLQ
Q9Y215 collagen like tail subunit of asymmetric acetylcholinesterase 92 0.628 0.654 7.9E-14 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: 6834
Gene Symbol: SURF1
SURF1
Q15526 SURF1 cytochrome c oxidase assembly factor Enzyme 150 0.578 0.654 1.6E-13 0.100 None 0 0
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
Q09428 ATP binding cassette subfamily C member 8 Transporter 317 0.474 0.846 8.0E-24 0.100 None 0 0
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
P40763 signal transducer and activator of transcription 3 Nucleic acid binding 1193 0.320 0.923 1.00 0.100 None 0 0
Entrez Id: 5885
Gene Symbol: RAD21
RAD21
O60216 RAD21 cohesin complex component 192 0.528 0.846 1.00 0.100 None 0 0
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 2
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: 5727
Gene Symbol: PTCH1
PTCH1
Q13635 patched 1 604 0.398 0.885 1.00 0.100 None 0 1
Entrez Id: 4720
Gene Symbol: NDUFS2
NDUFS2
O75306 NADH:ubiquinone oxidoreductase core subunit S2 Enzyme 142 0.601 0.654 1.4E-03 0.100 None 0 0