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: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.319 0.846 1.00
CUI: C1842364
Disease: Central hypotonia
Central hypotonia
phenotype 0.100 None 1.000 2 1 2006 2006
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
tubulin beta 4A class IVa 0.608 0.615 0.11
CUI: C1842364
Disease: Central hypotonia
Central hypotonia
phenotype 0.100 None 1.000 1 1 2014 2014
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
DEAF1 transcription factor 0.575 0.615 3.4E-04
CUI: C1842364
Disease: Central hypotonia
Central hypotonia
phenotype 0.100 None 1.000 1 1 2017 2017
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
contactin associated protein 1 0.554 0.577 3.4E-05
CUI: C1842364
Disease: Central hypotonia
Central hypotonia
phenotype 0.100 None 0 1
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C1842364
Disease: Central hypotonia
Central hypotonia
phenotype 0.100 None 0 1
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
nuclear receptor binding SET domain protein 1 0.505 0.769 1.00
CUI: C1842364
Disease: Central hypotonia
Central hypotonia
phenotype 0.100 None 0 1
Entrez Id: 6660
Gene Symbol: SOX5
SOX5
SRY-box transcription factor 5 0.545 0.769 1.00
CUI: C1842364
Disease: Central hypotonia
Central hypotonia
phenotype 0.100 None 0 1
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
spastin 0.579 0.577 1.00
CUI: C1842364
Disease: Central hypotonia
Central hypotonia
phenotype 0.100 None 0 1
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
cyclin dependent kinase like 5 0.522 0.692 1.00
CUI: C1842364
Disease: Central hypotonia
Central hypotonia
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: C1842364
Disease: Central hypotonia
Central hypotonia
phenotype 0.100 None 0 1
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
centrosomal protein 290 0.517 0.769 1.1E-60
CUI: C1842364
Disease: Central hypotonia
Central hypotonia
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: C1842364
Disease: Central hypotonia
Central hypotonia
phenotype 0.100 None 0 1
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
MEFV innate immuity regulator, pyrin 0.440 0.885 1.0E-14
CUI: C1842364
Disease: Central hypotonia
Central hypotonia
phenotype 0.100 None 0 1
Entrez Id: 10585
Gene Symbol: POMT1
POMT1
protein O-mannosyltransferase 1 0.525 0.615 4.2E-17
CUI: C1842364
Disease: Central hypotonia
Central hypotonia
phenotype 0.100 None 0 1
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
T-box brain transcription factor 1 0.666 0.385 1.00
CUI: C1842364
Disease: Central hypotonia
Central hypotonia
phenotype 0.100 None 0 1
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5
adenylate cyclase 5 0.617 0.577 1.00
CUI: C1842364
Disease: Central hypotonia
Central hypotonia
phenotype 0.100 None 0 1
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1
ASXL transcriptional regulator 1 0.482 0.808 1.3E-14
CUI: C1842364
Disease: Central hypotonia
Central hypotonia
phenotype 0.100 None 0 1
Entrez Id: 23221
Gene Symbol: RHOBTB2
RHOBTB2
Rho related BTB domain containing 2 0.631 0.615 1.3E-02
CUI: C1842364
Disease: Central hypotonia
Central hypotonia
phenotype 0.100 None 0 1
Entrez Id: 23334
Gene Symbol: SZT2
SZT2
SZT2 subunit of KICSTOR complex 0.670 0.423 2.3E-14
CUI: C1842364
Disease: Central hypotonia
Central hypotonia
phenotype 0.100 None 0 2
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
H3.3 histone A 0.559 0.692 0.12
CUI: C1842364
Disease: Central hypotonia
Central hypotonia
phenotype 0.100 None 0 1
Entrez Id: 3190
Gene Symbol: HNRNPK
HNRNPK
heterogeneous nuclear ribonucleoprotein K 0.539 0.846 1.00
CUI: C1842364
Disease: Central hypotonia
Central hypotonia
phenotype 0.100 None 0 1
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C1842364
Disease: Central hypotonia
Central hypotonia
phenotype 0.100 None 0 1
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
TBC1 domain containing kinase 0.650 0.654 2.1E-15
CUI: C1842364
Disease: Central hypotonia
Central hypotonia
phenotype 0.100 None 0 1