Source: CLINVAR ×
Gene UniProt Gene Full Name Protein Class N. diseases g DSI g DPI g pLI Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 4015
Gene Symbol: LOX
LOX 		P28300 lysyl oxidase 3 0.447 0.846 0.99 0.700 strong 1.000 3 2 1990 2019
Entrez Id: 7043
Gene Symbol: TGFB3
TGFB3 		P10600 transforming growth factor beta 3 Signaling 4 0.498 0.808 0.99 0.700 limited 1.000 0 1 2006 2015
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		P35555 fibrillin 1 Calcium-binding protein 137 0.417 0.846 1.00 0.600 definitive 1.000 155 361 1973 2019
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2 		P37173 transforming growth factor beta receptor 2 Kinase 18 0.413 0.846 0.13 0.600 definitive 1.000 33 20 2003 2019
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1 		P36897 transforming growth factor beta receptor 1 Kinase 20 0.451 0.885 0.85 0.600 definitive 1.000 18 12 2005 2019
Entrez Id: 4088
Gene Symbol: SMAD3
SMAD3 		P84022 SMAD family member 3 Transcription factor 6 0.415 0.923 0.80 0.600 definitive 1.000 12 22 1999 2019
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2 		P62736 actin alpha 2, smooth muscle Cellular structure 7 0.508 0.846 0.93 0.600 definitive 1.000 10 8 2000 2016
Entrez Id: 4629
Gene Symbol: MYH11
MYH11 		P35749 myosin heavy chain 11 9 0.528 0.731 0.77 0.600 definitive 1.000 1 4 2005 2019
Entrez Id: 4638
Gene Symbol: MYLK
MYLK 		Q15746 myosin light chain kinase Kinase 8 0.510 0.846 9.2E-12 0.600 strong 1.000 0 2 2010 2016
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1 		P46531 notch receptor 1 12 0.369 0.885 1.00 0.600 limited 1.000 0 1 2005 2016
Entrez Id: 81031
Gene Symbol: SLC2A10
SLC2A10 		O95528 solute carrier family 2 member 10 Transporter 3 0.550 0.615 1.6E-08 0.600 limited 1.000 0 1 2003 2010
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1 		P02461 collagen type III alpha 1 chain 11 0.477 0.808 1.00 0.600 definitive 1.000 0 4 1988 2015
Entrez Id: 1290
Gene Symbol: COL5A2
COL5A2 		P05997 collagen type V alpha 2 chain 9 0.568 0.731 1.00 0.400 limited 0 2
Entrez Id: 1289
Gene Symbol: COL5A1
COL5A1 		P20908 collagen type V alpha 1 chain 26 0.536 0.769 1.00 0.400 limited 0 1
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		P02452 collagen type I alpha 1 chain 54 0.430 0.808 1.00 0.400 limited 0 1
Entrez Id: 57559
Gene Symbol: STAMBPL1
STAMBPL1 		Q96FJ0 STAM binding protein like 1 Enzyme 6 0.729 0.462 1.2E-14 0.100 None 1.000 10 8 2007 2013
Entrez Id: 153443
Gene Symbol: SRFBP1
SRFBP1 		Q8NEF9 serum response factor binding protein 1 3 0.861 0.038 7.1E-12 0.100 None 1.000 2 1 2016 2016
Entrez Id: 100132116
Gene Symbol: ACTA2-AS1
ACTA2-AS1 		ACTA2 antisense RNA 1 3 0.769 0.231 0.100 None 1.000 2 2 2009 2009
Entrez Id: 54820
Gene Symbol: NDE1
NDE1 		Q9NXR1 nudE neurodevelopment protein 1 8 0.608 0.462 6.7E-03 0.100 None 0 1
Entrez Id: 112752
Gene Symbol: IFT43
IFT43 		Q96FT9 intraflagellar transport 43 8 0.617 0.577 1.8E-11 0.100 None 0 1
Entrez Id: 100506826
Gene Symbol: MYLK-AS1
MYLK-AS1 		MYLK antisense RNA 1 2 0.931 0.100 None 0 1