Source: CLINVAR

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: 128989
Gene Symbol: TANGO2
TANGO2 		transport and golgi organization 2 homolog 0.666 0.615 1.5E-04
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1 		ATP binding cassette subfamily D member 1 0.563 0.731 1.00
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		phenotype 0.100 None 1.000 1 1 1998 1998
Entrez Id: 8086
Gene Symbol: AAAS
AAAS 		aladin WD repeat nucleoporin 0.601 0.654 2.4E-13
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		phenotype 0.100 None 0 1
Entrez Id: 7507
Gene Symbol: XPA
XPA 		XPA, DNA damage recognition and repair factor 0.520 0.846 7.9E-05
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		phenotype 0.100 None 0 2
Entrez Id: 65055
Gene Symbol: REEP1
REEP1 		receptor accessory protein 1 0.653 0.423 0.99
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		phenotype 0.100 None 0 1
Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL 		interferon regulatory factor 2 binding protein like 0.631 0.462 0.84
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		phenotype 0.100 None 0 1
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A 		sodium voltage-gated channel alpha subunit 8 0.510 0.731 1.00
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		phenotype 0.100 None 0 1
Entrez Id: 1654
Gene Symbol: DDX3X
DDX3X 		DEAD-box helicase 3 X-linked 0.537 0.769 1.00
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		phenotype 0.100 None 0 1
Entrez Id: 138050
Gene Symbol: HGSNAT
HGSNAT 		heparan-alpha-glucosaminide N-acetyltransferase 0.628 0.577 6.3E-08
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		phenotype 0.100 None 0 1
Entrez Id: 9757
Gene Symbol: KMT2B
KMT2B 		lysine methyltransferase 2B 0.529 0.808 1.00
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		phenotype 0.100 None 0 1