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: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC
RNA, U4atac small nuclear (U12-dependent splicing) 199 0.556 0.808 0.100 None 0 0
Entrez Id: 100529211
Gene Symbol: TMEM256-PLSCR3
TMEM256-PLSCR3
TMEM256-PLSCR3 readthrough (NMD candidate) 11 0.861 0.154 5.9E-03 0.100 None 0 1
Entrez Id: 339400
Gene Symbol: FLG-AS1
FLG-AS1
FLG antisense RNA 1 43 0.700 0.538 0.100 None 0 1
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: 51594
Gene Symbol: NBAS
NBAS
A2RRP1 NBAS subunit of NRZ tethering complex 123 0.566 0.692 5.0E-43 0.100 None 0 0
Entrez Id: 92482
Gene Symbol: BBIP1
BBIP1
A8MTZ0 BBSome interacting protein 1 37 0.695 0.423 4.2E-03 0.100 None 0 0
Entrez Id: 421
Gene Symbol: ARVCF
ARVCF
O00192 ARVCF delta catenin family member Cellular structure 151 0.540 0.769 5.0E-11 0.100 None 0 0
Entrez Id: 5718
Gene Symbol: PSMD12
PSMD12
O00232 proteasome 26S subunit, non-ATPase 12 Enzyme modulator 105 0.578 0.808 1.00 0.100 None 0 0
Entrez Id: 7476
Gene Symbol: WNT7A
WNT7A
O00755 Wnt family member 7A Signaling 182 0.531 0.692 3.6E-02 0.100 None 0 0
Entrez Id: 1855
Gene Symbol: DVL1
DVL1
O14640 dishevelled segment polarity protein 1 Signaling 181 0.531 0.769 3.7E-06 0.100 None 0 0
Entrez Id: 8675
Gene Symbol: STX16
STX16
O14662 syntaxin 16 Transporter 58 0.656 0.538 0.48 0.100 None 0 0
Entrez Id: 9895
Gene Symbol: TECPR2
TECPR2
O15040 tectonin beta-propeller repeat containing 2 51 0.663 0.423 0.58 0.100 None 0 0
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
O15078 centrosomal protein 290 196 0.517 0.769 1.1E-60 0.100 None 0 0
Entrez Id: 4593
Gene Symbol: MUSK
MUSK
O15146 muscle associated receptor tyrosine kinase Kinase 146 0.570 0.769 4.2E-08 0.100 None 0 0
Entrez Id: 4867
Gene Symbol: NPHP1
NPHP1
O15259 nephrocystin 1 126 0.572 0.731 1.2E-17 0.100 None 0 0
Entrez Id: 6473
Gene Symbol: SHOX
SHOX
O15266 short stature homeobox 138 0.561 0.654 0.67 0.100 None 0 0
Entrez Id: 3636
Gene Symbol: INPPL1
INPPL1
O15357 inositol polyphosphate phosphatase like 1 133 0.590 0.769 2.3E-03 0.100 None 0 0
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH
O43175 phosphoglycerate dehydrogenase Enzyme 288 0.484 0.885 1.3E-04 0.100 None 0 0
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
O43435 T-box transcription factor 1 Transcription factor 417 0.433 0.808 0.84 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: 701
Gene Symbol: BUB1B
BUB1B
O60566 BUB1 mitotic checkpoint serine/threonine kinase B Kinase 231 0.502 0.808 7.0E-10 0.100 None 0 0
Entrez Id: 10324
Gene Symbol: KLHL41
KLHL41
O60662 kelch like family member 41 94 0.682 0.538 1.1E-04 0.100 None 0 0
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9
O60706 ATP binding cassette subfamily C member 9 Transporter 175 0.552 0.692 9.4E-09 0.100 None 0 0
Entrez Id: 28952
Gene Symbol: CCDC22
CCDC22
O60826 coiled-coil domain containing 22 99 0.595 0.692 1.00 0.100 None 0 0
Entrez Id: 4683
Gene Symbol: NBN
NBN
O60934 nibrin Nucleic acid binding 291 0.467 0.808 2.2E-16 0.100 None 0 0