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: 4001
Gene Symbol: LMNB1
LMNB1
P20700 lamin B1 128 0.564 0.731 0.55 0.100 None 0 0
Entrez Id: 5428
Gene Symbol: POLG
POLG
P54098 DNA polymerase gamma, catalytic subunit Enzyme 462 0.457 0.846 2.1E-09 0.100 None 0 0
Entrez Id: 54834
Gene Symbol: GDAP2
GDAP2
Q9NXN4 ganglioside induced differentiation associated protein 2 19 0.839 0.154 1.5E-09 0.100 None 0 0
Entrez Id: 551
Gene Symbol: AVP
AVP
P01185 arginine vasopressin Signaling 454 0.437 0.846 7.4E-02 0.100 None 0 0
Entrez Id: 55739
Gene Symbol: NAXD
NAXD
Q8IW45 NAD(P)HX dehydratase 25 0.839 0.231 7.0E-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: 5663
Gene Symbol: PSEN1
PSEN1
P49768 presenilin 1 Enzyme 369 0.469 0.846 0.97 0.100 None 0 0
Entrez Id: 57187
Gene Symbol: THOC2
THOC2
Q8NI27 THO complex 2 Transcription factor 59 0.650 0.538 1.00 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: 5277
Gene Symbol: PIGA
PIGA
P37287 phosphatidylinositol glycan anchor biosynthesis class A 140 0.575 0.654 0.96 0.100 None 0 0
Entrez Id: 5274
Gene Symbol: SERPINI1
SERPINI1
Q99574 serpin family I member 1 Enzyme modulator 58 0.631 0.462 2.7E-02 0.100 None 0 0
Entrez Id: 400916
Gene Symbol: CHCHD10
CHCHD10
Q8WYQ3 coiled-coil-helix-coiled-coil-helix domain containing 10 112 0.623 0.462 5.4E-06 0.100 None 0 0
Entrez Id: 4125
Gene Symbol: MAN2B1
MAN2B1
O00754 mannosidase alpha class 2B member 1 66 0.674 0.462 4.8E-22 0.100 None 0 0
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
P10636 microtubule associated protein tau 469 0.446 0.923 6.0E-03 0.100 None 0 0
Entrez Id: 4287
Gene Symbol: ATXN3
ATXN3
P54252 ataxin 3 Enzyme 207 0.521 0.808 0.11 0.100 None 0 0
Entrez Id: 4337
Gene Symbol: MOCS1
MOCS1
Q9NZB8 molybdenum cofactor synthesis 1 44 0.743 0.231 9.1E-07 0.100 None 0 0
Entrez Id: 4338
Gene Symbol: MOCS2
MOCS2
O96007 O96033 molybdenum cofactor synthesis 2 39 0.729 0.308 4.6E-04 0.100 None 0 0
Entrez Id: 5076
Gene Symbol: PAX2
PAX2
Q02962 paired box 2 216 0.495 0.731 0.67 0.100 None 0 0
Entrez Id: 523
Gene Symbol: ATP6V1A
ATP6V1A
P38606 ATPase H+ transporting V1 subunit A Transporter 147 0.579 0.615 0.87 0.100 None 0 0
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
Q5JUK3 potassium sodium-activated channel subfamily T member 1 Ion channel 72 0.610 0.308 2.8E-05 0.100 None 0 0
Entrez Id: 5903
Gene Symbol: RANBP2
RANBP2
P49792 RAN binding protein 2 Enzyme modulator 110 0.578 0.615 1.00 0.100 None 0 0
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L
Q9Y276 BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone 172 0.534 0.808 4.7E-13 0.100 None 0 0
Entrez Id: 7415
Gene Symbol: VCP
VCP
P55072 valosin containing protein 376 0.469 0.923 1.00 0.100 None 0 0
Entrez Id: 79731
Gene Symbol: NARS2
NARS2
Q96I59 asparaginyl-tRNA synthetase 2, mitochondrial Enzyme 57 0.650 0.577 7.1E-08 0.100 None 0 0
Entrez Id: 79944
Gene Symbol: L2HGDH
L2HGDH
Q9H9P8 L-2-hydroxyglutarate dehydrogenase Enzyme 62 0.653 0.462 4.2E-05 0.100 None 0 0