Source: LHGDN

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: 170532
Gene Symbol: OTSC3
OTSC3
otosclerosis 3 0.931 0.038
CUI: C0029899
Disease: Otosclerosis
Otosclerosis
disease 0.010 None 1.000 1 0 2002 2002
Entrez Id: 170534
Gene Symbol: PARK10
PARK10
Parkinson disease 10 (susceptibility) 0.890 0.038
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
disease 0.100 None 0.917 1 0 2005 2020
Entrez Id: 171515
Gene Symbol: HBFQTL4
HBFQTL4
Fetal hemoglobin QTL on chromosome 8 1.000 0.038
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia
disease 0.010 None 1.000 1 0 2008 2008
Entrez Id: 171515
Gene Symbol: HBFQTL4
HBFQTL4
Fetal hemoglobin QTL on chromosome 8 1.000 0.038
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME
group 0.010 None 1.000 1 0 2008 2008
Entrez Id: 2112
Gene Symbol: ETM2
ETM2
essential tremor 2 0.931 0.038
CUI: C0270736
Disease: Essential Tremor
Essential Tremor
disease 0.060 None 1.000 1 0 2003 2008
Entrez Id: 255520
Gene Symbol: ELMOD2
ELMOD2
ELMO domain containing 2 0.890 0.038 0.42
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis
disease 0.010 None 1.000 1 0 2006 2006
Entrez Id: 2723
Gene Symbol: GLC1C
GLC1C
glaucoma 1, open angle, C 0.861 0.038
CUI: C0017612
Disease: Glaucoma, Open-Angle
Glaucoma, Open-Angle
disease 0.010 None 1.000 1 0 2006 2006
Entrez Id: 286751
Gene Symbol: OTSC4
OTSC4
otosclerosis 4 1.000 0.038
CUI: C0029899
Disease: Otosclerosis
Otosclerosis
disease 0.010 None 1.000 1 0 2006 2006
Entrez Id: 29767
Gene Symbol: TMOD2
TMOD2
tropomodulin 2 1.000 0.038 2.0E-02
CUI: C0007138
Disease: Carcinoma, Transitional Cell
Carcinoma, Transitional Cell
disease 0.010 None 1.000 1 0 2004 2004
Entrez Id: 347730
Gene Symbol: LRRTM1
LRRTM1
leucine rich repeat transmembrane neuronal 1 0.931 0.038 0.59
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
disease 0.540 None 1.000 1 0 2007 2014
Entrez Id: 387573
Gene Symbol: CHDS3
CHDS3
Coronary heart disease, susceptibility to, 3 1.000 0.038
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
disease 0.010 None 1.000 1 0 2006 2006
Entrez Id: 391634
Gene Symbol: HSP90AB2P
HSP90AB2P
heat shock protein 90 alpha family class B member 2, pseudogene 1.000 0.038
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
disease 0.010 None 1.000 1 0 2006 2006
Entrez Id: 3940
Gene Symbol: LDHAP1
LDHAP1
lactate dehydrogenase A pseudogene 1 1.000 0.038
CUI: C0036631
Disease: Seminoma
Seminoma
disease 0.010 None 1.000 1 0 2002 2002
Entrez Id: 399564
Gene Symbol: GLC1H
GLC1H
glaucoma 1, open angle, H (adult-onset) 0.931 0.038
CUI: C0017612
Disease: Glaucoma, Open-Angle
Glaucoma, Open-Angle
disease 0.010 None 1.000 1 0 2007 2007
Entrez Id: 4711
Gene Symbol: NDUFB5
NDUFB5
NADH:ubiquinone oxidoreductase subunit B5 1.000 0.038 7.3E-04
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
disease 0.010 None 1.000 1 0 2009 2009
Entrez Id: 5051
Gene Symbol: PAFAH2
PAFAH2
platelet activating factor acetylhydrolase 2 1.000 0.038 3.8E-09
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
disease 0.010 None 1.000 1 0 2008 2008
Entrez Id: 51291
Gene Symbol: GMIP
GMIP
GEM interacting protein 0.890 0.038 1.9E-10
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder
disease 0.310 None 1.000 1 0 2005 2005
Entrez Id: 5408
Gene Symbol: PNLIPRP2
PNLIPRP2
pancreatic lipase related protein 2 (gene/pseudogene) 0.890 0.038 4.0E-10
CUI: C0030305
Disease: Pancreatitis
Pancreatitis
disease 0.020 None 1.000 1 0 2006 2019
Entrez Id: 55230
Gene Symbol: USP40
USP40
ubiquitin specific peptidase 40 0.931 0.038 1.2E-25
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
disease 0.030 None 0.667 1 0 2006 2012
Entrez Id: 56105
Gene Symbol: PCDHGA11
PCDHGA11
protocadherin gamma subfamily A, 11 0.931 0.038 1.3E-08
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
disease 0.010 None 1.000 1 0 2005 2005
Entrez Id: 56286
Gene Symbol: DAD1P1
DAD1P1
defender against cell death 1 pseudogene 1 1.000 0.038
CUI: C0036631
Disease: Seminoma
Seminoma
disease 0.010 None 1.000 1 0 2002 2002
Entrez Id: 647859
Gene Symbol: OCLNP1
OCLNP1
OCLN pseudogene 1 1.000 0.038
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy
disease 0.010 None 1.000 1 0 2006 2006
Entrez Id: 654817
Gene Symbol: NCF1C
NCF1C
neutrophil cytosolic factor 1C pseudogene 1.000 0.038
CUI: C0018203
Disease: Chronic granulomatous disease
Chronic granulomatous disease
group 0.010 None 1.000 1 0 2003 2003
Entrez Id: 654817
Gene Symbol: NCF1C
NCF1C
neutrophil cytosolic factor 1C pseudogene 1.000 0.038
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
disease 0.010 None 1.000 1 0 2006 2006
Entrez Id: 664780
Gene Symbol: MYP12
MYP12
myopia 12 (high grade, autosomal dominant) 0.931 0.038
CUI: C0027092
Disease: Myopia
Myopia
disease 0.020 None 1.000 1 0 2007 2009