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: 57061
Gene Symbol: HYMAI
HYMAI
hydatidiform mole associated and imprinted 61 0.670 0.538 0.100 None 0 0
Entrez Id: 6023
Gene Symbol: RMRP
RMRP
RNA component of mitochondrial RNA processing endoribonuclease 239 0.519 0.731 0.100 None 0 0
Entrez Id: 157680
Gene Symbol: VPS13B
VPS13B
Q7Z7G8 vacuolar protein sorting 13 homolog B 158 0.579 0.769 2.5E-45 0.100 None 0 0
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
Q9Y6K1 DNA methyltransferase 3 alpha 350 0.445 0.846 7.4E-39 0.100 None 0 0
Entrez Id: 341208
Gene Symbol: HEPHL1
HEPHL1
Q6MZM0 hephaestin like 1 21 0.792 0.231 1.1E-34 0.100 None 0 0
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
P35670 ATPase copper transporting beta Transporter 182 0.529 0.654 4.8E-30 0.100 None 0 0
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
P21817 ryanodine receptor 1 Ion channel 320 0.489 0.808 1.6E-29 0.100 None 0 0
Entrez Id: 55764
Gene Symbol: IFT122
IFT122
Q9HBG6 intraflagellar transport 122 135 0.560 0.846 2.4E-24 0.100 None 0 0
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
O14802 RNA polymerase III subunit A Enzyme 219 0.538 0.769 1.3E-23 0.100 None 0 0
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
Q9P2L0 WD repeat domain 35 188 0.525 0.692 1.0E-22 0.100 None 0 0
Entrez Id: 1806
Gene Symbol: DPYD
DPYD
Q12882 dihydropyrimidine dehydrogenase Enzyme 249 0.493 0.846 3.4E-22 0.100 None 0 0
Entrez Id: 3376
Gene Symbol: IARS1
IARS1
P41252 isoleucyl-tRNA synthetase 1 Enzyme 76 0.606 0.692 1.7E-21 0.100 None 0 0
Entrez Id: 9820
Gene Symbol: CUL7
CUL7
Q14999 cullin 7 90 0.633 0.500 2.6E-21 0.100 None 0 0
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
P12111 collagen type VI alpha 3 chain Receptor 156 0.563 0.769 1.8E-20 0.100 None 0 0
Entrez Id: 64175
Gene Symbol: P3H1
P3H1
Q32P28 prolyl 3-hydroxylase 1 Extracellular structure 37 0.736 0.231 2.3E-20 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 0
Entrez Id: 3679
Gene Symbol: ITGA7
ITGA7
Q13683 integrin subunit alpha 7 111 0.588 0.654 4.3E-17 0.100 None 0 0
Entrez Id: 145173
Gene Symbol: B3GLCT
B3GLCT
Q6Y288 beta 3-glucosyltransferase Enzyme 157 0.554 0.731 7.1E-17 0.100 None 0 0
Entrez Id: 10020
Gene Symbol: GNE
GNE
Q9Y223 glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase Enzyme 118 0.610 0.692 2.5E-16 0.100 None 0 0
Entrez Id: 3508
Gene Symbol: IGHMBP2
IGHMBP2
P38935 immunoglobulin mu DNA binding protein 2 102 0.636 0.615 3.0E-16 0.100 None 0 1
Entrez Id: 55780
Gene Symbol: ERMARD
ERMARD
Q5T6L9 ER membrane associated RNA degradation 65 0.647 0.538 5.8E-16 0.100 None 0 0
Entrez Id: 5351
Gene Symbol: PLOD1
PLOD1
Q02809 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 Enzyme 123 0.579 0.731 1.5E-15 0.100 None 0 0
Entrez Id: 4998
Gene Symbol: ORC1
ORC1
Q13415 origin recognition complex subunit 1 Nucleic acid binding 103 0.595 0.654 1.7E-14 0.100 None 0 0
Entrez Id: 2006
Gene Symbol: ELN
ELN
P15502 elastin 545 0.415 0.885 2.1E-14 0.100 None 0 0
Entrez Id: 1305
Gene Symbol: COL13A1
COL13A1
Q5TAT6 collagen type XIII alpha 1 chain 139 0.608 0.654 3.7E-14 0.100 None 0 0