Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1 		G protein subunit alpha o1 0.523 0.808 0.99
CUI: C0008489
Disease: Chorea
Chorea 		phenotype 0.120 None 1.000 0 1 2017 2017
Entrez Id: 23732
Gene Symbol: FRRS1L
FRRS1L 		ferric chelate reductase 1 like 0.666 0.231 1.5E-03
CUI: C0008489
Disease: Chorea
Chorea 		phenotype 0.100 None 1.000 1 4 2016 2016
Entrez Id: 79868
Gene Symbol: ALG13
ALG13 		ALG13 UDP-N-acetylglucosaminyltransferase subunit 0.631 0.577 1.00
CUI: C0008489
Disease: Chorea
Chorea 		phenotype 0.100 None 1.000 1 1 2013 2013
Entrez Id: 79876
Gene Symbol: UBA5
UBA5 		ubiquitin like modifier activating enzyme 5 0.582 0.731 2.5E-04
CUI: C0008489
Disease: Chorea
Chorea 		phenotype 0.100 None 0 2
Entrez Id: 55023
Gene Symbol: PHIP
PHIP 		pleckstrin homology domain interacting protein 0.595 0.769 1.00
CUI: C0008489
Disease: Chorea
Chorea 		phenotype 0.100 None 0 1
Entrez Id: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11 		NPHP3-ACAD11 readthrough (NMD candidate) 0.663 0.577
CUI: C0008489
Disease: Chorea
Chorea 		phenotype 0.100 None 0 2
Entrez Id: 23221
Gene Symbol: RHOBTB2
RHOBTB2 		Rho related BTB domain containing 2 0.631 0.615 1.3E-02
CUI: C0008489
Disease: Chorea
Chorea 		phenotype 0.100 None 0 1
Entrez Id: 1476
Gene Symbol: CSTB
CSTB 		cystatin B 0.530 0.692 6.6E-03
CUI: C0008489
Disease: Chorea
Chorea 		phenotype 0.100 None 0 1
Entrez Id: 134728
Gene Symbol: IRAK1BP1
IRAK1BP1 		interleukin 1 receptor associated kinase 1 binding protein 1 0.780 0.346 1.4E-06
CUI: C0008489
Disease: Chorea
Chorea 		phenotype 0.100 None 0 1
Entrez Id: 10479
Gene Symbol: SLC9A6
SLC9A6 		solute carrier family 9 member A6 0.516 0.846 1.00
CUI: C0008489
Disease: Chorea
Chorea 		phenotype 0.100 None 0 1
Entrez Id: 9757
Gene Symbol: KMT2B
KMT2B 		lysine methyltransferase 2B 0.529 0.808 1.00
CUI: C0008489
Disease: Chorea
Chorea 		phenotype 0.100 None 0 1