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: 7337
Gene Symbol: UBE3A
UBE3A
Q05086 ubiquitin protein ligase E3A 155 0.561 0.692 1.00 1.000 definitive 0.967 180 122 1997 2020
Entrez Id: 104472715
Gene Symbol: SNHG14
SNHG14
small nucleolar RNA host gene 14 44 0.656 0.577 0.170 None 1.000 17 122 1999 2019
Entrez Id: 3093
Gene Symbol: UBE2K
UBE2K
P61086 ubiquitin conjugating enzyme E2 K 58 0.631 0.654 0.99 0.100 None 0.938 16 0 1997 2019
Entrez Id: 79594
Gene Symbol: MUL1
MUL1
Q969V5 mitochondrial E3 ubiquitin protein ligase 1 241 0.473 0.808 1.9E-06 0.100 None 1.000 10 0 2004 2019
Entrez Id: 8926
Gene Symbol: SNURF
SNURF
P63162 Q9Y675 SNRPN upstream reading frame 63 0.623 0.538 0.46 0.080 None 1.000 8 0 1994 2010
Entrez Id: 4948
Gene Symbol: OCA2
OCA2
Q04671 OCA2 melanosomal transmembrane protein 141 0.539 0.808 2.9E-13 0.070 None 1.000 7 0 1993 2016
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
F7VJQ1 P04156 prion protein 426 0.445 0.923 6.3E-04 0.040 None 1.000 4 0 1998 2012
Entrez Id: 692236
Gene Symbol: SNORD116@
SNORD116@
small nucleolar RNA, C/D box 116 cluster 33 0.705 0.692 0.030 None 1.000 3 0 2010 2013
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
O95714 HECT and RLD domain containing E3 ubiquitin protein ligase 2 143 0.568 0.692 1.00 0.030 None 1.000 3 0 2012 2016
Entrez Id: 3342
Gene Symbol: HTC2
HTC2
hypertrichosis 2 (generalized, congenital) 511 0.392 0.808 0.020 None 0.500 2 0 2013 2017
Entrez Id: 6045
Gene Symbol: RNF2
RNF2
Q99496 ring finger protein 2 63 0.608 0.615 1.00 0.020 None 1.000 2 0 2010 2017
Entrez Id: 7389
Gene Symbol: UROD
UROD
P06132 uroporphyrinogen decarboxylase 166 0.521 0.769 1.3E-08 0.020 None 1.000 2 0 1992 2005
Entrez Id: 100126333
Gene Symbol: MIR708
MIR708
microRNA 708 86 0.570 0.692 0.010 None 1.000 1 0 2019 2019
Entrez Id: 100689229
Gene Symbol: H3P12
H3P12
H3 histone pseudogene 12 74 0.603 0.615 0.010 None 1.000 1 0 2018 2018
Entrez Id: 10168
Gene Symbol: ZNF197
ZNF197
O14709 zinc finger protein 197 72 0.606 0.615 5.2E-13 0.010 None 1.000 1 0 2018 2018
Entrez Id: 1031
Gene Symbol: CDKN2C
CDKN2C
P42773 cyclin dependent kinase inhibitor 2C 149 0.527 0.654 0.40 0.010 None 1.000 1 0 2018 2018
Entrez Id: 1072
Gene Symbol: CFL1
CFL1
P23528 cofilin 1 153 0.529 0.769 0.56 0.010 None 1.000 1 0 2018 2018
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
Q92793 CREB binding protein 438 0.428 0.808 1.00 0.010 None 1.000 1 0 2014 2014
Entrez Id: 1583
Gene Symbol: CYP11A1
CYP11A1
P05108 cytochrome P450 family 11 subfamily A member 1 166 0.547 0.731 5.5E-07 0.010 None 1.000 1 0 2018 2018
Entrez Id: 2033
Gene Symbol: EP300
EP300
Q09472 E1A binding protein p300 345 0.459 0.846 1.00 0.010 None 1.000 1 0 2014 2014
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
P55316 forkhead box G1 224 0.522 0.692 0.94 0.010 None 1.000 1 0 2014 2014
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
Q8IZT6 abnormal spindle microtubule assembly 159 0.526 0.769 3.4E-49 0.010 None 1.000 1 0 2011 2011
Entrez Id: 414301
Gene Symbol: DDI1
DDI1
Q8WTU0 DNA damage inducible 1 homolog 1 4 0.861 0.115 2.1E-09 0.010 None < 0.001 1 0 2018 2018
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
P42898 methylenetetrahydrofolate reductase 985 0.337 0.885 3.2E-10 0.010 None 1.000 1 0 2006 2006
Entrez Id: 4826
Gene Symbol: NNAT
NNAT
Q16517 neuronatin 50 0.633 0.538 0.40 0.010 None 1.000 1 0 2019 2019