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: 2778
Gene Symbol: GNAS
GNAS
GNAS complex locus 0.420 0.885 0.68
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.450 None 1.000 0 2 2003 2013
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
transcriptional repressor GATA binding 1 0.537 0.769 1.00
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.130 None 1.000 0 2 2001 2019
Entrez Id: 54496
Gene Symbol: PRMT7
PRMT7
protein arginine methyltransferase 7 0.674 0.538 5.5E-15
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.120 None 1.000 0 4 2017 2019
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.391 0.846 1.6E-05
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.110 None 1.000 0 1 1998 1998
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
patched 1 0.398 0.885 1.00
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.110 None 1.000 0 1 2007 2007
Entrez Id: 49855
Gene Symbol: SCAPER
SCAPER
S-phase cyclin A associated protein in the ER 0.653 0.500 8.8E-03
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.100 None 1.000 1 1 2019 2019
Entrez Id: 55869
Gene Symbol: HDAC8
HDAC8
histone deacetylase 8 0.511 0.885 0.98
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.100 None 0 1
Entrez Id: 57728
Gene Symbol: WDR19
WDR19
WD repeat domain 19 0.554 0.769 4.6E-11
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 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: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.100 None 0 1
Entrez Id: 582
Gene Symbol: BBS1
BBS1
Bardet-Biedl syndrome 1 0.593 0.692 3.4E-12
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.100 None 0 1
Entrez Id: 7287
Gene Symbol: TULP1
TULP1
TUB like protein 1 0.623 0.462 5.7E-04
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.100 None 0 1
Entrez Id: 79659
Gene Symbol: DYNC2H1
DYNC2H1
dynein cytoplasmic 2 heavy chain 1 0.555 0.731 1.1E-44
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.100 None 0 6
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
euchromatic histone lysine methyltransferase 1 0.460 0.808 1.00
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.100 None 0 1
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
OFD1 centriole and centriolar satellite protein 0.510 0.808 0.96
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.100 None 0 1
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
thyroid hormone receptor interactor 11 0.595 0.654 1.7E-12
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.100 None 0 2
Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A
protein phosphatase 2 scaffold subunit Aalpha 0.588 0.577 0.98
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.100 None 0 1
Entrez Id: 546
Gene Symbol: ATRX
ATRX
ATRX chromatin remodeler 0.452 0.808 1.00
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.100 None 0 1
Entrez Id: 100529211
Gene Symbol: TMEM256-PLSCR3
TMEM256-PLSCR3
TMEM256-PLSCR3 readthrough (NMD candidate) 0.861 0.154 5.9E-03
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.100 None 0 1
Entrez Id: 196528
Gene Symbol: ARID2
ARID2
AT-rich interaction domain 2 0.543 0.808 1.00
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.100 None 0 1
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.100 None 0 1
Entrez Id: 254359
Gene Symbol: ZDHHC24
ZDHHC24
zinc finger DHHC-type containing 24 0.722 0.462 4.2E-04
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.100 None 0 1
Entrez Id: 254863
Gene Symbol: TMEM256
TMEM256
transmembrane protein 256 0.861 0.154 6.1E-04
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.100 None 0 1
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
NIPBL cohesin loading factor 0.521 0.808 1.00
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.100 None 0 1
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
gap junction protein beta 2 0.441 0.846 6.6E-16
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.100 None 0 1
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
GLI family zinc finger 3 0.436 0.846 1.00
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.100 None 0 1