Source: ORPHANET

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: 220136
Gene Symbol: CFAP53
CFAP53 		cilia and flagella associated protein 53 0.780 0.115 9.7E-19
CUI: C0037221
Disease: Situs Inversus
Situs Inversus 		disease 0.410 None 1.000 1 0 2012 2015
Entrez Id: 168507
Gene Symbol: PKD1L1
PKD1L1 		polycystin 1 like 1, transient receptor potential channel interacting 0.729 0.231 1.1E-40
CUI: C0037221
Disease: Situs Inversus
Situs Inversus 		disease 0.400 None 1.000 1 0 2016 2016
Entrez Id: 4838
Gene Symbol: NODAL
NODAL 		nodal growth differentiation factor 0.588 0.731 0.97
CUI: C0037221
Disease: Situs Inversus
Situs Inversus 		disease 0.400 None 1.000 1 0 2009 2009
Entrez Id: 1770
Gene Symbol: DNAH9
DNAH9 		dynein axonemal heavy chain 9 0.716 0.500 3.1E-60
CUI: C0037221
Disease: Situs Inversus
Situs Inversus 		disease 0.310 None 1.000 1 0 2018 2018
Entrez Id: 118856
Gene Symbol: MMP21
MMP21 		matrix metallopeptidase 21 0.621 0.385 1.3E-09
CUI: C0037221
Disease: Situs Inversus
Situs Inversus 		disease 0.300 None 1.000 2 0 2015 2015
Entrez Id: 124401
Gene Symbol: ANKS3
ANKS3 		ankyrin repeat and sterile alpha motif domain containing 3 0.821 0.192 1.9E-07
CUI: C0037221
Disease: Situs Inversus
Situs Inversus 		disease 0.300 None 1.000 1 0 2016 2016
Entrez Id: 146845
Gene Symbol: CFAP52
CFAP52 		cilia and flagella associated protein 52 0.890 0.154 8.1E-18
CUI: C0037221
Disease: Situs Inversus
Situs Inversus 		disease 0.300 None 1.000 1 0 2015 2015
Entrez Id: 29922
Gene Symbol: NME7
NME7 		NME/NM23 family member 7 0.729 0.423 4.0E-06
CUI: C0037221
Disease: Situs Inversus
Situs Inversus 		disease 0.300 None 1.000 1 0 2016 2016
Entrez Id: 10370
Gene Symbol: CITED2
CITED2 		Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 0.576 0.654 0.76
CUI: C0037221
Disease: Situs Inversus
Situs Inversus 		disease 0.300 None 0 0