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: 3064
Gene Symbol: HTT
HTT 		huntingtin 0.548 0.654 1.00
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		disease 1.000 limited 0.987 21 0 1993 2020
Entrez Id: 387715
Gene Symbol: ARMS2
ARMS2 		age-related maculopathy susceptibility 2 0.670 0.308 5.2E-04
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		disease 0.700 limited 0.951 14 0 2005 2019
Entrez Id: 5654
Gene Symbol: HTRA1
HTRA1 		HtrA serine peptidase 1 0.532 0.692 4.9E-04
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		disease 0.500 limited 0.940 14 0 2006 2019
Entrez Id: 488
Gene Symbol: ATP2A2
ATP2A2 		ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 0.529 0.808 1.00
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		disease 1.000 limited 0.974 9 0 1999 2018
Entrez Id: 2308
Gene Symbol: FOXO1
FOXO1 		forkhead box O1 0.433 0.846 1.00
CUI: C0206655
Disease: Alveolar rhabdomyosarcoma
Alveolar rhabdomyosarcoma 		disease 0.800 limited 0.992 6 0 1995 2019
Entrez Id: 4650
Gene Symbol: MYO9B
MYO9B 		myosin IXB 0.644 0.615 1.00
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		disease 0.600 limited 0.792 6 0 2005 2017
Entrez Id: 8106
Gene Symbol: PABPN1
PABPN1 		poly(A) binding protein nuclear 1 0.674 0.423 0.39
CUI: C0270952
Disease: Muscular Dystrophy, Oculopharyngeal
Muscular Dystrophy, Oculopharyngeal 		disease 0.900 limited 0.979 6 0 1998 2020
Entrez Id: 1536
Gene Symbol: CYBB
CYBB 		cytochrome b-245 beta chain 0.452 0.885 1.00
CUI: C0018203
Disease: Chronic granulomatous disease
Chronic granulomatous disease 		group 0.900 limited 0.986 5 0 1987 2020
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		lamin A/C 0.384 0.885 1.00
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		disease 0.600 limited 0.978 5 0 2000 2020
Entrez Id: 4179
Gene Symbol: CD46
CD46 		CD46 molecule 0.477 0.808 4.7E-07
CUI: C0019061
Disease: Hemolytic-Uremic Syndrome
Hemolytic-Uremic Syndrome 		disease 0.500 limited 0.933 5 0 2003 2019
Entrez Id: 207
Gene Symbol: AKT1
AKT1 		AKT serine/threonine kinase 1 0.311 0.962 0.98
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		disease 0.900 limited 0.865 4 0 2001 2019
Entrez Id: 23495
Gene Symbol: TNFRSF13B
TNFRSF13B 		TNF receptor superfamily member 13B 0.558 0.769 2.1E-15
CUI: C0009447
Disease: Common Variable Immunodeficiency
Common Variable Immunodeficiency 		disease 0.700 limited 1.000 4 0 1986 2019
Entrez Id: 6532
Gene Symbol: SLC6A4
SLC6A4 		solute carrier family 6 member 4 0.429 0.808 0.25
CUI: C0028768
Disease: Obsessive-Compulsive Disorder
Obsessive-Compulsive Disorder 		disease 0.600 limited 0.886 4 0 1997 2019
Entrez Id: 718
Gene Symbol: C3
C3 		complement C3 0.445 0.885 0.90
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		disease 0.700 limited 1.000 4 0 2007 2020
Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12 		ATP binding cassette subfamily A member 12 0.610 0.654 2.9E-15
CUI: C0079154
Disease: Congenital Nonbullous Ichthyosiform Erythroderma
Congenital Nonbullous Ichthyosiform Erythroderma 		disease 0.700 limited 1.000 3 0 2003 2020
Entrez Id: 283120
Gene Symbol: H19
H19 		H19 imprinted maternally expressed transcript 0.494 0.923
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		disease 0.600 limited 0.950 3 0 1994 2017
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1 		serpin family A member 1 0.410 0.923 6.8E-08
CUI: C0024115
Disease: Lung diseases
Lung diseases 		group 0.600 limited 0.983 3 0 1982 2019
Entrez Id: 83872
Gene Symbol: HMCN1
HMCN1 		hemicentin 1 0.736 0.577 3.6E-38
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		disease 0.500 limited 0.846 3 0 2003 2015
Entrez Id: 10516
Gene Symbol: FBLN5
FBLN5 		fibulin 5 0.546 0.692 1.00
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa 		disease 0.700 limited 1.000 2 0 2002 2018
Entrez Id: 2006
Gene Symbol: ELN
ELN 		elastin 0.415 0.885 2.1E-14
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa 		disease 0.700 limited 1.000 2 0 1980 2020
Entrez Id: 2033
Gene Symbol: EP300
EP300 		E1A binding protein p300 0.459 0.846 1.00
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		disease 0.600 limited 0.969 2 0 2005 2019
Entrez Id: 23592
Gene Symbol: LEMD3
LEMD3 		LEM domain containing 3 0.582 0.731 1.00
CUI: C0025239
Disease: Melorheostosis
Melorheostosis 		disease 0.360 limited 0.500 2 0 2004 2017
Entrez Id: 25794
Gene Symbol: FSCN2
FSCN2 		fascin actin-bundling protein 2, retinal 0.682 0.346 3.8E-13
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		disease 0.320 limited 1.000 2 0 2003 2008
Entrez Id: 3605
Gene Symbol: IL17A
IL17A 		interleukin 17A 0.324 0.923 4.3E-02
CUI: C0003864
Disease: Arthritis
Arthritis 		disease 0.400 limited 1.000 2 0 2003 2020
Entrez Id: 5081
Gene Symbol: PAX7
PAX7 		paired box 7 0.597 0.538 0.14
CUI: C0206655
Disease: Alveolar rhabdomyosarcoma
Alveolar rhabdomyosarcoma 		disease 0.800 limited 0.976 2 0 1995 2019