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: 6092
Gene Symbol: ROBO2
ROBO2
roundabout guidance receptor 2 0.633 0.462 1.00
CUI: C0042580
Disease: Vesico-Ureteral Reflux
Vesico-Ureteral Reflux
disease 0.440 limited 1.000 2 0 2007 2016
Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A
sodium voltage-gated channel alpha subunit 9 0.543 0.615 4.8E-19
CUI: C0002768
Disease: Congenital Pain Insensitivity
Congenital Pain Insensitivity
disease 0.600 limited 1.000 2 0 2004 2018
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
solute carrier family 22 member 5 0.608 0.731 5.3E-16
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.350 limited 1.000 2 0 2002 2018
Entrez Id: 6638
Gene Symbol: SNRPN
SNRPN
small nuclear ribonucleoprotein polypeptide N 0.538 0.731 4.3E-02
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome
disease 0.800 limited 0.972 2 0 1992 2019
Entrez Id: 717
Gene Symbol: C2
C2
complement C2 0.617 0.692 1.3E-16
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
disease 0.680 limited 1.000 2 0 2006 2018
Entrez Id: 8792
Gene Symbol: TNFRSF11A
TNFRSF11A
TNF receptor superfamily member 11a 0.480 0.846 8.8E-03
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
disease 0.360 limited 1.000 2 0 2001 2018
Entrez Id: 9842
Gene Symbol: PLEKHM1
PLEKHM1
pleckstrin homology and RUN domain containing M1 0.691 0.577 8.1E-03
CUI: C0029454
Disease: Osteopetrosis
Osteopetrosis
disease 0.450 limited 1.000 2 0 2007 2016
Entrez Id: 11279
Gene Symbol: KLF8
KLF8
Kruppel like factor 8 0.628 0.462 2.2E-03
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.310 limited 1.000 1 0 2002 2002
Entrez Id: 1355
Gene Symbol: COX15
COX15
cytochrome c oxidase assembly homolog COX15 0.638 0.538 1.1E-13
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
disease 0.740 limited 1.000 1 0 2002 2016
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
ATP binding cassette subfamily A member 1 0.467 0.846 1.5E-13
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
disease 0.550 limited 1.000 1 0 2002 2017
Entrez Id: 23095
Gene Symbol: KIF1B
KIF1B
kinesin family member 1B 0.516 0.808 1.00
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
disease 0.630 limited 1.000 1 0 2008 2014
Entrez Id: 23129
Gene Symbol: PLXND1
PLXND1
plexin D1 0.647 0.577 1.00
CUI: C0221060
Disease: Mobius Syndrome
Mobius Syndrome
disease 0.540 limited 1.000 1 0 2004 2019
Entrez Id: 23630
Gene Symbol: KCNE5
KCNE5
potassium voltage-gated channel subfamily E regulatory subunit 5 0.666 0.500 0.12
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation
disease 0.330 limited 1.000 1 0 2005 2019
Entrez Id: 3119
Gene Symbol: HLA-DQB1
HLA-DQB1
major histocompatibility complex, class II, DQ beta 1 0.407 0.885 8.9E-03
CUI: C0027404
Disease: Narcolepsy
Narcolepsy
disease 0.800 limited 0.956 1 0 1996 2019
Entrez Id: 3458
Gene Symbol: IFNG
IFNG
interferon gamma 0.288 0.962 0.47
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia
disease 0.900 limited 1.000 1 0 1992 2020
Entrez Id: 392255
Gene Symbol: GDF6
GDF6
growth differentiation factor 6 0.587 0.500 0.99
CUI: C0022738
Disease: Klippel-Feil Syndrome
Klippel-Feil Syndrome
disease 0.740 limited 1.000 1 0 2008 2015
Entrez Id: 4312
Gene Symbol: MMP1
MMP1
matrix metallopeptidase 1 0.385 0.885 7.7E-18
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
disease 0.900 limited 0.875 1 0 2002 2019
Entrez Id: 4624
Gene Symbol: MYH6
MYH6
myosin heavy chain 6 0.581 0.615 1.6E-32
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
disease 0.660 limited 1.000 1 0 1984 2019
Entrez Id: 4838
Gene Symbol: NODAL
NODAL
nodal growth differentiation factor 0.588 0.731 0.97
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly
disease 0.620 limited 1.000 1 0 2008 2016
Entrez Id: 4916
Gene Symbol: NTRK3
NTRK3
neurotrophic receptor tyrosine kinase 3 0.522 0.692 1.00
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease
disease 0.320 limited 1.000 1 0 2009 2009
Entrez Id: 51778
Gene Symbol: MYOZ2
MYOZ2
myozenin 2 0.716 0.308 1.6E-03
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
disease 0.340 limited 1.000 1 0 2000 2017
Entrez Id: 54209
Gene Symbol: TREM2
TREM2
triggering receptor expressed on myeloid cells 2 0.519 0.769 3.3E-09
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
disease 0.700 limited 0.977 1 0 2007 2020
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
mitogen-activated protein kinase kinase 1 0.439 0.846 0.90
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
disease 0.680 limited 1.000 1 0 2007 2019
Entrez Id: 5837
Gene Symbol: PYGM
PYGM
glycogen phosphorylase, muscle associated 0.650 0.577 2.0E-13
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease
group 0.330 limited 1.000 1 0 2003 2011
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
Raf-1 proto-oncogene, serine/threonine kinase 0.418 0.885 0.85
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome
disease 0.770 limited 1.000 1 0 2007 2019