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: 80816
Gene Symbol: ASXL3
ASXL3
ASXL transcriptional regulator 3 0.590 0.577 1.00
CUI: C0333068
Disease: Flexion contracture
Flexion contracture
disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 25
Gene Symbol: ABL1
ABL1
ABL proto-oncogene 1, non-receptor tyrosine kinase 0.432 0.923 1.00
CUI: C0333068
Disease: Flexion contracture
Flexion contracture
disease 0.100 None 1.000 1 1 2017 2017
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1
HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 0.534 0.769 1.00
CUI: C0333068
Disease: Flexion contracture
Flexion contracture
disease 0.100 None 0 2
Entrez Id: 546
Gene Symbol: ATRX
ATRX
ATRX chromatin remodeler 0.452 0.808 1.00
CUI: C0333068
Disease: Flexion contracture
Flexion contracture
disease 0.100 None 0 1
Entrez Id: 55975
Gene Symbol: KLHL7
KLHL7
kelch like family member 7 0.581 0.731 4.6E-05
CUI: C0333068
Disease: Flexion contracture
Flexion contracture
disease 0.100 None 0 1
Entrez Id: 57038
Gene Symbol: RARS2
RARS2
arginyl-tRNA synthetase 2, mitochondrial 0.663 0.462 7.7E-14
CUI: C0333068
Disease: Flexion contracture
Flexion contracture
disease 0.100 None 0 2
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
sodium voltage-gated channel alpha subunit 1 0.477 0.808 1.00
CUI: C0333068
Disease: Flexion contracture
Flexion contracture
disease 0.100 None 0 1
Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL
interferon regulatory factor 2 binding protein like 0.631 0.462 0.84
CUI: C0333068
Disease: Flexion contracture
Flexion contracture
disease 0.100 None 0 1
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
spastin 0.579 0.577 1.00
CUI: C0333068
Disease: Flexion contracture
Flexion contracture
disease 0.100 None 0 1
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
transcriptional repressor GATA binding 1 0.537 0.769 1.00
CUI: C0333068
Disease: Flexion contracture
Flexion contracture
disease 0.100 None 0 1
Entrez Id: 79152
Gene Symbol: FA2H
FA2H
fatty acid 2-hydroxylase 0.573 0.654 0.15
CUI: C0333068
Disease: Flexion contracture
Flexion contracture
disease 0.100 None 0 1
Entrez Id: 79641
Gene Symbol: ROGDI
ROGDI
rogdi atypical leucine zipper 0.663 0.462 2.6E-09
CUI: C0333068
Disease: Flexion contracture
Flexion contracture
disease 0.100 None 0 2
Entrez Id: 51633
Gene Symbol: OTUD6B
OTUD6B
OTU deubiquitinase 6B 0.659 0.538 1.3E-07
CUI: C0333068
Disease: Flexion contracture
Flexion contracture
disease 0.100 None 0 1
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
notch receptor 2 0.441 0.808 1.00
CUI: C0333068
Disease: Flexion contracture
Flexion contracture
disease 0.100 None 0 1
Entrez Id: 342035
Gene Symbol: GLDN
GLDN
gliomedin 0.769 0.346 2.6E-13
CUI: C0333068
Disease: Flexion contracture
Flexion contracture
disease 0.100 None 0 1
Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1
SCN1A and SCN9A antisense RNA 1 0.636 0.346
CUI: C0333068
Disease: Flexion contracture
Flexion contracture
disease 0.100 None 0 1
Entrez Id: 10585
Gene Symbol: POMT1
POMT1
protein O-mannosyltransferase 1 0.525 0.615 4.2E-17
CUI: C0333068
Disease: Flexion contracture
Flexion contracture
disease 0.100 None 0 1
Entrez Id: 128989
Gene Symbol: TANGO2
TANGO2
transport and golgi organization 2 homolog 0.666 0.615 1.5E-04
CUI: C0333068
Disease: Flexion contracture
Flexion contracture
disease 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: C0333068
Disease: Flexion contracture
Flexion contracture
disease 0.100 None 0 1
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
collagen type VI alpha 2 chain 0.599 0.692 6.5E-08
CUI: C0333068
Disease: Flexion contracture
Flexion contracture
disease 0.100 None 0 1
Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7
potassium channel tetramerization domain containing 7 0.650 0.423 6.3E-04
CUI: C0333068
Disease: Flexion contracture
Flexion contracture
disease 0.100 None 0 2
Entrez Id: 1654
Gene Symbol: DDX3X
DDX3X
DEAD-box helicase 3 X-linked 0.537 0.769 1.00
CUI: C0333068
Disease: Flexion contracture
Flexion contracture
disease 0.100 None 0 1
Entrez Id: 2010
Gene Symbol: EMD
EMD
emerin 0.542 0.731 0.93
CUI: C0333068
Disease: Flexion contracture
Flexion contracture
disease 0.100 None 0 1
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
fibrillin 1 0.417 0.846 1.00
CUI: C0333068
Disease: Flexion contracture
Flexion contracture
disease 0.100 None 0 4
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
GLI family zinc finger 3 0.436 0.846 1.00
CUI: C0333068
Disease: Flexion contracture
Flexion contracture
disease 0.100 None 0 1