Source: ALL

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: 1280
Gene Symbol: COL2A1
COL2A1 		collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C0700635
Disease: Strudwick syndrome
Strudwick syndrome 		disease 0.730 None 1.000 8 8 1989 2017
Entrez Id: 2335
Gene Symbol: FN1
FN1 		fibronectin 1 0.365 0.962 1.4E-03
CUI: C0700635
Disease: Strudwick syndrome
Strudwick syndrome 		disease 0.130 None 1.000 3 9 2017 2019
Entrez Id: 5130
Gene Symbol: PCYT1A
PCYT1A 		phosphate cytidylyltransferase 1, choline, alpha 0.485 0.885 2.0E-05
CUI: C0700635
Disease: Strudwick syndrome
Strudwick syndrome 		disease 0.110 None 1.000 1 0 2017 2017
Entrez Id: 79631
Gene Symbol: EFL1
EFL1 		elongation factor like GTPase 1 0.638 0.577 5.1E-08
CUI: C0700635
Disease: Strudwick syndrome
Strudwick syndrome 		disease 0.100 None 0 1
Entrez Id: 755
Gene Symbol: CFAP410
CFAP410 		cilia and flagella associated protein 410 0.633 0.615 3.3E-07
CUI: C0700635
Disease: Strudwick syndrome
Strudwick syndrome 		disease 0.100 None 0 0
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4 		transient receptor potential cation channel subfamily V member 4 0.457 0.808 2.2E-16
CUI: C0700635
Disease: Strudwick syndrome
Strudwick syndrome 		disease 0.100 None 0 0
Entrez Id: 54
Gene Symbol: ACP5
ACP5 		acid phosphatase 5, tartrate resistant 0.561 0.731 7.9E-02
CUI: C0700635
Disease: Strudwick syndrome
Strudwick syndrome 		disease 0.100 None 0 0
Entrez Id: 51025
Gene Symbol: PAM16
PAM16 		presequence translocase associated motor 16 0.729 0.462 0.24
CUI: C0700635
Disease: Strudwick syndrome
Strudwick syndrome 		disease 0.100 None 0 0
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11 		thyroid hormone receptor interactor 11 0.595 0.654 1.7E-12
CUI: C0700635
Disease: Strudwick syndrome
Strudwick syndrome 		disease 0.100 None 0 0
Entrez Id: 2879
Gene Symbol: GPX4
GPX4 		glutathione peroxidase 4 0.516 0.808 4.8E-05
CUI: C0700635
Disease: Strudwick syndrome
Strudwick syndrome 		disease 0.100 None 0 0
Entrez Id: 1300
Gene Symbol: COL10A1
COL10A1 		collagen type X alpha 1 chain 0.619 0.500 3.0E-05
CUI: C0700635
Disease: Strudwick syndrome
Strudwick syndrome 		disease 0.030 None 1.000 3 1 1998 2019
Entrez Id: 3930
Gene Symbol: LBR
LBR 		lamin B receptor 0.473 0.808 0.18
CUI: C0700635
Disease: Strudwick syndrome
Strudwick syndrome 		disease 0.020 None 1.000 2 0 2015 2019
Entrez Id: 4322
Gene Symbol: MMP13
MMP13 		matrix metallopeptidase 13 0.452 0.923 7.9E-18
CUI: C0700635
Disease: Strudwick syndrome
Strudwick syndrome 		disease 0.010 None 1.000 1 0 2005 2005
Entrez Id: 4137
Gene Symbol: MAPT
MAPT 		microtubule associated protein tau 0.446 0.923 6.0E-03
CUI: C0700635
Disease: Strudwick syndrome
Strudwick syndrome 		disease 0.010 None 1.000 1 0 2009 2009
Entrez Id: 56476
Gene Symbol: ABCB10P1
ABCB10P1 		ABCB10 pseudogene 1 0.839 0.231
CUI: C0700635
Disease: Strudwick syndrome
Strudwick syndrome 		disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP 		TAR DNA binding protein 0.493 0.808 0.99
CUI: C0700635
Disease: Strudwick syndrome
Strudwick syndrome 		disease 0.010 None 1.000 1 0 2009 2009
Entrez Id: 4796
Gene Symbol: TONSL
TONSL 		tonsoku like, DNA repair protein 0.653 0.615 2.6E-13
CUI: C0700635
Disease: Strudwick syndrome
Strudwick syndrome 		disease 0.010 None 1.000 1 0 2019 2019