Source: GENOMICS_ENGLAND

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: 215
Gene Symbol: ABCD1
ABCD1
ATP binding cassette subfamily D member 1 0.563 0.731 1.00
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary
disease 0.310 strong 1.000 2 0 2007 2015
Entrez Id: 10613
Gene Symbol: ERLIN1
ERLIN1
ER lipid raft associated 1 0.736 0.308 0.18
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary
disease 0.320 None 1.000 1 0 2014 2019
Entrez Id: 80821
Gene Symbol: DDHD1
DDHD1
DDHD domain containing 1 0.716 0.423 0.90
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary
disease 0.330 limited 1.000 1 0 2005 2018
Entrez Id: 51271
Gene Symbol: UBAP1
UBAP1
ubiquitin associated protein 1 0.716 0.500 0.91
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary
disease 0.340 strong 1.000 1 0 2019 2020
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM
L1 cell adhesion molecule 0.475 0.769 1.00
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary
disease 0.340 strong 1.000 1 0 1995 2017
Entrez Id: 113612
Gene Symbol: CYP2U1
CYP2U1
cytochrome P450 family 2 subfamily U member 1 0.722 0.462 1.4E-03
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary
disease 0.350 strong 1.000 1 0 2012 2018
Entrez Id: 51062
Gene Symbol: ATL1
ATL1
atlastin GTPase 1 0.593 0.654 0.98
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary
disease 0.400 strong 1.000 1 0 2002 2019
Entrez Id: 11160
Gene Symbol: ERLIN2
ERLIN2
ER lipid raft associated 2 0.647 0.500 6.7E-04
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary
disease 0.430 None 1.000 4 0 2012 2019
Entrez Id: 3798
Gene Symbol: KIF5A
KIF5A
kinesin family member 5A 0.593 0.731 1.00
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary
disease 0.500 moderate 0.944 1 0 2002 2018
Entrez Id: 79152
Gene Symbol: FA2H
FA2H
fatty acid 2-hydroxylase 0.573 0.654 0.15
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary
disease 0.570 strong 1.000 1 0 2010 2019