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: 1499
Gene Symbol: CTNNB1
CTNNB1 		catenin beta 1 0.303 0.885 1.00
CUI: C1845245
Disease: Lower limb hypertonia
Lower limb hypertonia 		phenotype 0.100 None 1.000 3 1 1989 2017
Entrez Id: 100528021
Gene Symbol: ST20-MTHFS
ST20-MTHFS 		ST20-MTHFS readthrough 0.805 0.115 7.6E-03
CUI: C1845245
Disease: Lower limb hypertonia
Lower limb hypertonia 		phenotype 0.100 None 0 2
Entrez Id: 10588
Gene Symbol: MTHFS
MTHFS 		methenyltetrahydrofolate synthetase 0.678 0.500 2.6E-04
CUI: C1845245
Disease: Lower limb hypertonia
Lower limb hypertonia 		phenotype 0.100 None 0 2
Entrez Id: 55823
Gene Symbol: VPS11
VPS11 		VPS11 core subunit of CORVET and HOPS complexes 0.633 0.654 1.9E-05
CUI: C1845245
Disease: Lower limb hypertonia
Lower limb hypertonia 		phenotype 0.100 None 0 1
Entrez Id: 79621
Gene Symbol: RNASEH2B
RNASEH2B 		ribonuclease H2 subunit B 0.595 0.615 3.3E-09
CUI: C1845245
Disease: Lower limb hypertonia
Lower limb hypertonia 		phenotype 0.100 None 0 1