Source: CLINVAR ×
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: 84294
Gene Symbol: UTP23
UTP23 		Q9BRU9 UTP23 small subunit processome component 17 0.711 0.385 8.6E-02 0.100 None 1.000 1 1 2019 2019
Entrez Id: 5885
Gene Symbol: RAD21
RAD21 		O60216 RAD21 cohesin complex component 17 0.528 0.846 1.00 0.100 None 1.000 1 1 2019 2019
Entrez Id: 112939
Gene Symbol: NACC1
NACC1 		Q96RE7 nucleus accumbens associated 1 34 0.610 0.577 1.00 0.100 None 0 1
Entrez Id: 867
Gene Symbol: CBL
CBL 		P22681 Cbl proto-oncogene Enzyme 19 0.527 0.769 6.1E-04 0.100 None 0 1
Entrez Id: 6925
Gene Symbol: TCF4
TCF4 		P15884 transcription factor 4 Transcription factor 34 0.464 0.846 1.00 0.100 None 0 1
Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL 		Q9H1B7 interferon regulatory factor 2 binding protein like 97 0.631 0.462 0.84 0.100 None 0 1
Entrez Id: 55023
Gene Symbol: PHIP
PHIP 		Q8WWQ0 pleckstrin homology domain interacting protein Epigenetic regulator 76 0.595 0.769 1.00 0.100 None 0 1
Entrez Id: 5189
Gene Symbol: PEX1
PEX1 		O43933 peroxisomal biogenesis factor 1 46 0.538 0.769 1.1E-14 0.100 None 0 1
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2 		Q04721 notch receptor 2 17 0.441 0.808 1.00 0.100 None 0 1
Entrez Id: 23299
Gene Symbol: BICD2
BICD2 		Q8TD16 BICD cargo adaptor 2 28 0.615 0.731 0.98 0.100 None 0 1
Entrez Id: 2121
Gene Symbol: EVC
EVC 		P57679 EvC ciliary complex subunit 1 14 0.587 0.577 3.5E-25 0.100 None 0 2
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7 		Q9UBM7 7-dehydrocholesterol reductase Enzyme 34 0.500 0.846 3.9E-13 0.100 None 0 1
Entrez Id: 1400
Gene Symbol: CRMP1
CRMP1 		Q14194 collapsin response mediator protein 1 Enzyme 14 0.525 0.808 0.99 0.100 None 0 1
Entrez Id: 9772
Gene Symbol: TMEM94
TMEM94 		Q12767 transmembrane protein 94 73 0.628 0.654 2.8E-14 0.100 None 0 2