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: 79158
Gene Symbol: GNPTAB
GNPTAB 		Q3T906 N-acetylglucosamine-1-phosphate transferase subunits alpha and beta 30 0.592 0.731 7.7E-19 0.100 None 1.000 3 1 2006 2014
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1 		Q96PV0 synaptic Ras GTPase activating protein 1 Enzyme modulator 59 0.584 0.577 1.00 0.100 None 0 1
Entrez Id: 8621
Gene Symbol: CDK13
CDK13 		Q14004 cyclin dependent kinase 13 Kinase 100 0.606 0.692 0.91 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
Entrez Id: 79621
Gene Symbol: RNASEH2B
RNASEH2B 		Q5TBB1 ribonuclease H2 subunit B 14 0.595 0.615 3.3E-09 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: 63979
Gene Symbol: FIGNL1
FIGNL1 		Q6PIW4 fidgetin like 1 Cellular structure 16 0.805 0.385 1.2E-04 0.100 None 0 3
Entrez Id: 51091
Gene Symbol: SEPSECS
SEPSECS 		Q9HD40 Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase 45 0.656 0.423 1.6E-08 0.100 None 0 2
Entrez Id: 2475
Gene Symbol: MTOR
MTOR 		P42345 mechanistic target of rapamycin kinase Kinase 86 0.343 0.885 1.00 0.100 None 0 1
Entrez Id: 1644
Gene Symbol: DDC
DDC 		P20711 dopa decarboxylase 16 0.535 0.769 3.8E-08 0.100 None 0 3
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: 9091
Gene Symbol: PIGQ
PIGQ 		Q9BRB3 phosphatidylinositol glycan anchor biosynthesis class Q Enzyme 54 0.610 0.577 1.4E-06 0.100 None 0 1