Source: BEFREE

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: 25953
Gene Symbol: PNKD
PNKD 		PNKD metallo-beta-lactamase domain containing 0.615 0.615 4.1E-08
CUI: C4551506
Disease: Paroxysmal Nonkinesigenic Dyskinesia 1
Paroxysmal Nonkinesigenic Dyskinesia 1 		disease 1.000 None 0.923 11 3 1997 2018
Entrez Id: 7157
Gene Symbol: TP53
TP53 		tumor protein p53 0.236 0.962 0.53
CUI: C4551506
Disease: Paroxysmal Nonkinesigenic Dyskinesia 1
Paroxysmal Nonkinesigenic Dyskinesia 1 		disease 0.040 None 0.750 4 0 1996 2019
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C4551506
Disease: Paroxysmal Nonkinesigenic Dyskinesia 1
Paroxysmal Nonkinesigenic Dyskinesia 1 		disease 0.030 None 1.000 3 0 2009 2016
Entrez Id: 4582
Gene Symbol: MUC1
MUC1 		mucin 1, cell surface associated 0.384 0.885 1.9E-02
CUI: C4551506
Disease: Paroxysmal Nonkinesigenic Dyskinesia 1
Paroxysmal Nonkinesigenic Dyskinesia 1 		disease 0.030 None 1.000 3 0 2003 2011
Entrez Id: 3447
Gene Symbol: IFNA13
IFNA13 		interferon alpha 13 0.374 0.923
CUI: C4551506
Disease: Paroxysmal Nonkinesigenic Dyskinesia 1
Paroxysmal Nonkinesigenic Dyskinesia 1 		disease 0.020 None 1.000 2 0 2017 2019
Entrez Id: 3439
Gene Symbol: IFNA1
IFNA1 		interferon alpha 1 0.371 0.923
CUI: C4551506
Disease: Paroxysmal Nonkinesigenic Dyskinesia 1
Paroxysmal Nonkinesigenic Dyskinesia 1 		disease 0.020 None 1.000 2 0 2017 2019
Entrez Id: 3342
Gene Symbol: HTC2
HTC2 		hypertrichosis 2 (generalized, congenital) 0.392 0.808
CUI: C4551506
Disease: Paroxysmal Nonkinesigenic Dyskinesia 1
Paroxysmal Nonkinesigenic Dyskinesia 1 		disease 0.020 None 1.000 2 0 2010 2011
Entrez Id: 3140
Gene Symbol: MR1
MR1 		major histocompatibility complex, class I-related 0.716 0.346 4.9E-18
CUI: C4551506
Disease: Paroxysmal Nonkinesigenic Dyskinesia 1
Paroxysmal Nonkinesigenic Dyskinesia 1 		disease 0.020 None 1.000 2 2 2004 2012
Entrez Id: 999
Gene Symbol: CDH1
CDH1 		cadherin 1 0.401 0.808 0.15
CUI: C4551506
Disease: Paroxysmal Nonkinesigenic Dyskinesia 1
Paroxysmal Nonkinesigenic Dyskinesia 1 		disease 0.020 None 1.000 2 0 2014 2017
Entrez Id: 2158
Gene Symbol: F9
F9 		coagulation factor IX 0.465 0.885 1.00
CUI: C4551506
Disease: Paroxysmal Nonkinesigenic Dyskinesia 1
Paroxysmal Nonkinesigenic Dyskinesia 1 		disease 0.010 None 1.000 1 0 2002 2002
Entrez Id: 5726
Gene Symbol: TAS2R38
TAS2R38 		taste 2 receptor member 38 0.531 0.808 0.13
CUI: C4551506
Disease: Paroxysmal Nonkinesigenic Dyskinesia 1
Paroxysmal Nonkinesigenic Dyskinesia 1 		disease 0.010 None 1.000 1 0 2002 2002
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C4551506
Disease: Paroxysmal Nonkinesigenic Dyskinesia 1
Paroxysmal Nonkinesigenic Dyskinesia 1 		disease 0.010 None 1.000 1 0 2002 2002
Entrez Id: 5979
Gene Symbol: RET
RET 		ret proto-oncogene 0.392 0.885 1.00
CUI: C4551506
Disease: Paroxysmal Nonkinesigenic Dyskinesia 1
Paroxysmal Nonkinesigenic Dyskinesia 1 		disease 0.010 None 1.000 1 0 2002 2002
Entrez Id: 6508
Gene Symbol: SLC4A3
SLC4A3 		solute carrier family 4 member 3 0.751 0.154 1.2E-05
CUI: C4551506
Disease: Paroxysmal Nonkinesigenic Dyskinesia 1
Paroxysmal Nonkinesigenic Dyskinesia 1 		disease 0.010 None 1.000 1 0 1999 1999
Entrez Id: 1072
Gene Symbol: CFL1
CFL1 		cofilin 1 0.529 0.769 0.56
CUI: C4551506
Disease: Paroxysmal Nonkinesigenic Dyskinesia 1
Paroxysmal Nonkinesigenic Dyskinesia 1 		disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 693203
Gene Symbol: MIR618
MIR618 		microRNA 618 0.670 0.500
CUI: C4551506
Disease: Paroxysmal Nonkinesigenic Dyskinesia 1
Paroxysmal Nonkinesigenic Dyskinesia 1 		disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A 		cyclin dependent kinase inhibitor 2A 0.300 0.885 0.39
CUI: C4551506
Disease: Paroxysmal Nonkinesigenic Dyskinesia 1
Paroxysmal Nonkinesigenic Dyskinesia 1 		disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 7360
Gene Symbol: UGP2
UGP2 		UDP-glucose pyrophosphorylase 2 0.711 0.308 1.4E-08
CUI: C4551506
Disease: Paroxysmal Nonkinesigenic Dyskinesia 1
Paroxysmal Nonkinesigenic Dyskinesia 1 		disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 7739
Gene Symbol: ZNF185
ZNF185 		zinc finger protein 185 with LIM domain 0.711 0.500 6.3E-13
CUI: C4551506
Disease: Paroxysmal Nonkinesigenic Dyskinesia 1
Paroxysmal Nonkinesigenic Dyskinesia 1 		disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 1364
Gene Symbol: CLDN4
CLDN4 		claudin 4 0.514 0.692 7.0E-05
CUI: C4551506
Disease: Paroxysmal Nonkinesigenic Dyskinesia 1
Paroxysmal Nonkinesigenic Dyskinesia 1 		disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 860
Gene Symbol: RUNX2
RUNX2 		RUNX family transcription factor 2 0.437 0.846 0.95
CUI: C4551506
Disease: Paroxysmal Nonkinesigenic Dyskinesia 1
Paroxysmal Nonkinesigenic Dyskinesia 1 		disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 8609
Gene Symbol: KLF7
KLF7 		Kruppel like factor 7 0.743 0.385 0.98
CUI: C4551506
Disease: Paroxysmal Nonkinesigenic Dyskinesia 1
Paroxysmal Nonkinesigenic Dyskinesia 1 		disease 0.010 None 1.000 1 0 2014 2014
Entrez Id: 8842
Gene Symbol: PROM1
PROM1 		prominin 1 0.410 0.846 1.9E-22
CUI: C4551506
Disease: Paroxysmal Nonkinesigenic Dyskinesia 1
Paroxysmal Nonkinesigenic Dyskinesia 1 		disease 0.010 None 1.000 1 0 2003 2003
Entrez Id: 929
Gene Symbol: CD14
CD14 		CD14 molecule 0.392 0.885 4.9E-05
CUI: C4551506
Disease: Paroxysmal Nonkinesigenic Dyskinesia 1
Paroxysmal Nonkinesigenic Dyskinesia 1 		disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 55515
Gene Symbol: ASIC4
ASIC4 		acid sensing ion channel subunit family member 4 0.769 0.115 2.9E-03
CUI: C4551506
Disease: Paroxysmal Nonkinesigenic Dyskinesia 1
Paroxysmal Nonkinesigenic Dyskinesia 1 		disease 0.010 None 1.000 1 0 2001 2001