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: 51733
Gene Symbol: UPB1
UPB1
Q9UBR1 beta-ureidopropionase 1 Enzyme 21 0.722 0.346 7.4E-12 0.100 None 0 0
Entrez Id: 56006
Gene Symbol: SMG9
SMG9
Q9H0W8 SMG9 nonsense mediated mRNA decay factor 48 0.729 0.346 3.5E-13 0.100 None 0 0
Entrez Id: 728294
Gene Symbol: D2HGDH
D2HGDH
Q8N465 D-2-hydroxyglutarate dehydrogenase 50 0.691 0.500 5.4E-02 0.100 None 0 0
Entrez Id: 95
Gene Symbol: ACY1
ACY1
Q03154 aminoacylase 1 62 0.653 0.577 6.9E-09 0.100 None 0 0
Entrez Id: 25828
Gene Symbol: TXN2
TXN2
Q99757 thioredoxin 2 Enzyme 76 0.628 0.615 2.6E-05 0.100 None 0 0
Entrez Id: 3704
Gene Symbol: ITPA
ITPA
Q9BY32 inosine triphosphatase Enzyme 77 0.604 0.500 1.0E-07 0.100 None 0 0
Entrez Id: 55823
Gene Symbol: VPS11
VPS11
Q9H270 VPS11 core subunit of CORVET and HOPS complexes Transporter 79 0.633 0.654 1.9E-05 0.100 None 0 0
Entrez Id: 79796
Gene Symbol: ALG9
ALG9
Q9H6U8 ALG9 alpha-1,2-mannosyltransferase Enzyme 80 0.644 0.654 6.4E-04 0.100 None 0 0
Entrez Id: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11
NPHP3-ACAD11 readthrough (NMD candidate) 82 0.663 0.577 0.100 None 0 2
Entrez Id: 5191
Gene Symbol: PEX7
PEX7
O00628 peroxisomal biogenesis factor 7 100 0.603 0.615 8.2E-13 0.100 None 0 0
Entrez Id: 6567
Gene Symbol: SLC16A2
SLC16A2
P36021 solute carrier family 16 member 2 Transporter 108 0.592 0.577 0.99 0.100 None 0 0
Entrez Id: 23126
Gene Symbol: POGZ
POGZ
Q7Z3K3 pogo transposable element derived with ZNF domain Transcription factor 117 0.599 0.577 1.00 0.100 None 0 0
Entrez Id: 57468
Gene Symbol: SLC12A5
SLC12A5
Q9H2X9 solute carrier family 12 member 5 Transporter 135 0.570 0.654 1.00 0.100 None 0 0
Entrez Id: 4594
Gene Symbol: MMUT
MMUT
P22033 methylmalonyl-CoA mutase Enzyme 147 0.534 0.731 1.7E-22 0.100 None 0 0
Entrez Id: 79876
Gene Symbol: UBA5
UBA5
Q9GZZ9 ubiquitin like modifier activating enzyme 5 Enzyme 150 0.582 0.731 2.5E-04 0.100 None 0 2
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
P78357 contactin associated protein 1 166 0.554 0.577 3.4E-05 0.100 None 1.000 1 1 2017 2017
Entrez Id: 23028
Gene Symbol: KDM1A
KDM1A
O60341 lysine demethylase 1A Epigenetic regulator 185 0.512 0.808 1.00 0.100 None 0 0
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: 2290
Gene Symbol: FOXG1
FOXG1
P55316 forkhead box G1 224 0.522 0.692 0.94 0.100 None 0 1
Entrez Id: 652
Gene Symbol: BMP4
BMP4
P12644 bone morphogenetic protein 4 Signaling 423 0.422 0.808 0.96 0.100 None 0 0
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
P35222 catenin beta 1 1368 0.303 0.885 1.00 0.100 None 0 0