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: 2782
Gene Symbol: GNB1
GNB1 		P62873 G protein subunit beta 1 Enzyme 34 0.617 0.731 1.00 0.100 None 1.000 1 3 2016 2016
Entrez Id: 7862
Gene Symbol: BRPF1
BRPF1 		P55201 bromodomain and PHD finger containing 1 15 0.686 0.385 1.00 0.100 None 0 1
Entrez Id: 55975
Gene Symbol: KLHL7
KLHL7 		Q8IXQ5 kelch like family member 7 31 0.581 0.731 4.6E-05 0.100 None 0 1
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		O43526 potassium voltage-gated channel subfamily Q member 2 Ion channel 28 0.537 0.654 1.00 0.100 None 0 1
Entrez Id: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11 		NPHP3-ACAD11 readthrough (NMD candidate) 69 0.663 0.577 0.100 None 0 2
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1 		Q14204 dynein cytoplasmic 1 heavy chain 1 Enzyme 61 0.547 0.769 1.00 0.100 None 0 1
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1 		Q8IXJ9 ASXL transcriptional regulator 1 52 0.482 0.808 1.3E-14 0.100 None 0 1
Entrez Id: 1188
Gene Symbol: CLCNKB
CLCNKB 		P51801 chloride voltage-gated channel Kb Ion channel 11 0.593 0.692 1.4E-22 0.100 None 0 1
Entrez Id: 10716
Gene Symbol: TBR1
TBR1 		Q16650 T-box brain transcription factor 1 Transcription factor 22 0.666 0.385 1.00 0.100 None 0 1
Entrez Id: 79876
Gene Symbol: UBA5
UBA5 		Q9GZZ9 ubiquitin like modifier activating enzyme 5 Enzyme 62 0.582 0.731 2.5E-04 0.100 None 0 2