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: 1080
Gene Symbol: CFTR
CFTR 		CF transmembrane conductance regulator 0.424 0.885 2.2E-58
CUI: C0392171
Disease: Influenza-like symptoms
Influenza-like symptoms 		phenotype 0.040 None < 0.001 4 0 2007 2016
Entrez Id: 3358
Gene Symbol: HTR2C
HTR2C 		5-hydroxytryptamine receptor 2C 0.555 0.692 3.7E-02
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders 		group 0.040 None < 0.001 4 1 1996 2007
Entrez Id: 5740
Gene Symbol: PTGIS
PTGIS 		prostaglandin I2 synthase 0.617 0.654 1.2E-09
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		disease 0.630 limited < 0.001 3 1 2001 2003
Entrez Id: 5083
Gene Symbol: PAX9
PAX9 		paired box 9 0.636 0.538 0.31
CUI: C0080233
Disease: Tooth Loss
Tooth Loss 		disease 0.030 None < 0.001 3 0 2003 2009
Entrez Id: 1429
Gene Symbol: CRYZ
CRYZ 		crystallin zeta 0.524 0.731 5.7E-23
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		disease 0.330 None < 0.001 3 0 2003 2013
Entrez Id: 3586
Gene Symbol: IL10
IL10 		interleukin 10 0.281 0.923 5.9E-03
CUI: C1270972
Disease: Mild cognitive disorder
Mild cognitive disorder 		disease 0.030 None < 0.001 3 0 2018 2019
Entrez Id: 80326
Gene Symbol: WNT10A
WNT10A 		Wnt family member 10A 0.547 0.731 4.2E-09
CUI: C0080233
Disease: Tooth Loss
Tooth Loss 		disease 0.030 None < 0.001 3 1 2014 2016
Entrez Id: 6289
Gene Symbol: SAA2
SAA2 		serum amyloid A2 0.568 0.731 2.7E-06
CUI: C0268382
Disease: Amyloid nephropathy
Amyloid nephropathy 		disease 0.030 None < 0.001 3 0 2000 2004
Entrez Id: 348
Gene Symbol: APOE
APOE 		apolipoprotein E 0.338 0.962 1.9E-03
CUI: C0152136
Disease: Low Tension Glaucoma
Low Tension Glaucoma 		disease 0.030 None < 0.001 3 0 2004 2006
Entrez Id: 1896
Gene Symbol: EDA
EDA 		ectodysplasin A 0.553 0.808 0.97
CUI: C0080233
Disease: Tooth Loss
Tooth Loss 		disease 0.030 None < 0.001 3 0 2010 2019
Entrez Id: 6736
Gene Symbol: SRY
SRY 		sex determining region Y 0.456 0.808
CUI: C1261504
Disease: Congenital absence of both testes
Congenital absence of both testes 		disease 0.030 None < 0.001 3 0 1993 2004
Entrez Id: 3115
Gene Symbol: HLA-DPB1
HLA-DPB1 		major histocompatibility complex, class II, DP beta 1 0.453 0.923 5.3E-10
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		disease 0.320 None < 0.001 2 0 1994 2001
Entrez Id: 2006
Gene Symbol: ELN
ELN 		elastin 0.415 0.885 2.1E-14
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		phenotype 0.020 None < 0.001 2 0 2005 2007
Entrez Id: 4609
Gene Symbol: MYC
MYC 		MYC proto-oncogene, bHLH transcription factor 0.344 0.923 1.00
CUI: C0281784
Disease: Benign Meningioma
Benign Meningioma 		disease 0.020 None < 0.001 2 0 2001 2008
Entrez Id: 406947
Gene Symbol: MIR155
MIR155 		microRNA 155 0.384 0.885
CUI: C0010823
Disease: Cytomegalovirus Infections
Cytomegalovirus Infections 		group 0.020 None < 0.001 2 0 2017 2018
Entrez Id: 4193
Gene Symbol: MDM2
MDM2 		MDM2 proto-oncogene 0.362 0.846 1.00
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential 		disease 0.020 None < 0.001 2 0 1997 2019
Entrez Id: 6715
Gene Symbol: SRD5A1
SRD5A1 		steroid 5 alpha-reductase 1 0.631 0.538 1.2E-05
CUI: C0002170
Disease: Alopecia
Alopecia 		disease 0.020 None < 0.001 2 0 2003 2012
Entrez Id: 7056
Gene Symbol: THBD
THBD 		thrombomodulin 0.457 0.769 5.4E-02
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		disease 0.020 None < 0.001 2 0 2014 2018
Entrez Id: 2952
Gene Symbol: GSTT1
GSTT1 		glutathione S-transferase theta 1 0.393 0.923 1.5E-04
CUI: C0014869
Disease: Peptic Esophagitis
Peptic Esophagitis 		disease 0.020 None < 0.001 2 0 2006 2007
Entrez Id: 3586
Gene Symbol: IL10
IL10 		interleukin 10 0.281 0.923 5.9E-03
CUI: C0040517
Disease: Gilles de la Tourette syndrome
Gilles de la Tourette syndrome 		disease 0.020 None < 0.001 2 0 2008 2011
Entrez Id: 6943
Gene Symbol: TCF21
TCF21 		transcription factor 21 0.537 0.692 0.83
CUI: C0020598
Disease: Hypocalcemia
Hypocalcemia 		phenotype 0.020 None < 0.001 2 0 2017 2019
Entrez Id: 2903
Gene Symbol: GRIN2A
GRIN2A 		glutamate ionotropic receptor NMDA type subunit 2A 0.522 0.808 1.00
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		disease 0.020 None < 0.001 2 0 2017 2019
Entrez Id: 26298
Gene Symbol: EHF
EHF 		ETS homologous factor 0.650 0.577 0.71
CUI: C0035455
Disease: Rhinitis
Rhinitis 		disease 0.020 None < 0.001 2 0 2017 2017
Entrez Id: 729230
Gene Symbol: CCR2
CCR2 		C-C motif chemokine receptor 2 0.418 0.846 2.3E-02
CUI: C0024143
Disease: Lupus Nephritis
Lupus Nephritis 		disease 0.020 None < 0.001 2 0 2003 2010
Entrez Id: 4982
Gene Symbol: TNFRSF11B
TNFRSF11B 		TNF receptor superfamily member 11b 0.422 0.808 0.16
CUI: C0026269
Disease: Mitral Valve Stenosis
Mitral Valve Stenosis 		disease 0.020 None < 0.001 2 1 2012 2016