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: 6607
Gene Symbol: SMN2
SMN2 		survival of motor neuron 2, centromeric 0.459 0.769 0.10
CUI: C0234146
Disease: Absent reflex
Absent reflex 		phenotype 0.100 None 1.000 1 2 2013 2013
Entrez Id: 2548
Gene Symbol: GAA
GAA 		glucosidase alpha, acid 0.631 0.577 2.8E-18
CUI: C0234146
Disease: Absent reflex
Absent reflex 		phenotype 0.100 None 1.000 1 1 2015 2015
Entrez Id: 6606
Gene Symbol: SMN1
SMN1 		survival of motor neuron 1, telomeric 0.454 0.769 1.6E-02
CUI: C0234146
Disease: Absent reflex
Absent reflex 		phenotype 0.100 None 1.000 1 2 2013 2013
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1 		TTN antisense RNA 1 0.599 0.577
CUI: C0234146
Disease: Absent reflex
Absent reflex 		phenotype 0.100 None 0 2
Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL 		interferon regulatory factor 2 binding protein like 0.631 0.462 0.84
CUI: C0234146
Disease: Absent reflex
Absent reflex 		phenotype 0.100 None 0 1
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2 		piezo type mechanosensitive ion channel component 2 0.529 0.769 8.1E-07
CUI: C0234146
Disease: Absent reflex
Absent reflex 		phenotype 0.100 None 0 2
Entrez Id: 4358
Gene Symbol: MPV17
MPV17 		mitochondrial inner membrane protein MPV17 0.595 0.577 9.7E-11
CUI: C0234146
Disease: Absent reflex
Absent reflex 		phenotype 0.100 None 0 2
Entrez Id: 3508
Gene Symbol: IGHMBP2
IGHMBP2 		immunoglobulin mu DNA binding protein 2 0.636 0.615 3.0E-16
CUI: C0234146
Disease: Absent reflex
Absent reflex 		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: C0234146
Disease: Absent reflex
Absent reflex 		phenotype 0.100 None 0 1
Entrez Id: 1291
Gene Symbol: COL6A1
COL6A1 		collagen type VI alpha 1 chain 0.587 0.731 1.00
CUI: C0234146
Disease: Absent reflex
Absent reflex 		phenotype 0.100 None 0 2
Entrez Id: 7273
Gene Symbol: TTN
TTN 		titin 0.470 0.885 2.6E-96
CUI: C0234146
Disease: Absent reflex
Absent reflex 		phenotype 0.100 None 0 2