Source: MGD

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: 64072
Gene Symbol: CDH23
CDH23 		cadherin related 23 0.539 0.769 3.2E-06
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy 		group 0.500 definitive 1.000 12 0 1966 2011
Entrez Id: 3077
Gene Symbol: HFE
HFE 		homeostatic iron regulator 0.436 0.846 2.6E-08
CUI: C0012715
Disease: Iron Metabolism Disorders
Iron Metabolism Disorders 		group 0.300 None 1.000 11 0 1999 2014
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A 		myosin VIIA 0.585 0.423 1.6E-38
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy 		group 0.500 definitive 1.000 9 0 1956 2017
Entrez Id: 6010
Gene Symbol: RHO
RHO 		rhodopsin 0.525 0.769 1.3E-04
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy 		group 0.200 None 1.000 8 0 1997 2017
Entrez Id: 324
Gene Symbol: APC
APC 		APC regulator of WNT signaling pathway 0.373 0.962 1.00
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		group 0.900 None 0.982 7 0 1990 2019
Entrez Id: 6121
Gene Symbol: RPE65
RPE65 		retinoid isomerohydrolase RPE65 0.417 0.808 6.5E-14
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy 		group 0.200 None 1.000 7 0 1998 2008
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		peripheral myelin protein 22 0.471 0.885 0.91
CUI: C0027888
Disease: Hereditary Motor and Sensory Neuropathies
Hereditary Motor and Sensory Neuropathies 		group 0.600 None 0.938 6 0 1994 2016
Entrez Id: 1406
Gene Symbol: CRX
CRX 		cone-rod homeobox 0.565 0.692 0.51
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy 		group 0.200 None 1.000 5 0 1999 2014
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4 		hydroxysteroid 17-beta dehydrogenase 4 0.546 0.654 2.4E-10
CUI: C0268634
Disease: Disorder of fatty acid metabolism
Disorder of fatty acid metabolism 		group 0.200 None 1.000 5 0 2000 2013
Entrez Id: 3339
Gene Symbol: HSPG2
HSPG2 		heparan sulfate proteoglycan 2 0.438 0.885 1.0E-19
CUI: C0553604
Disease: Myotonic Disorders
Myotonic Disorders 		group 0.210 None 1.000 5 0 1999 2012
Entrez Id: 3572
Gene Symbol: IL6ST
IL6ST 		interleukin 6 signal transducer 0.475 0.808 1.00
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		group 0.220 None 1.000 5 0 2002 2014
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		myelin protein zero 0.503 0.846 0.27
CUI: C0027888
Disease: Hereditary Motor and Sensory Neuropathies
Hereditary Motor and Sensory Neuropathies 		group 0.600 None 0.905 5 0 1992 2019
Entrez Id: 4908
Gene Symbol: NTF3
NTF3 		neurotrophin 3 0.519 0.808 0.93
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		group 0.200 None 1.000 5 0 1994 2009
Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15 		protocadherin related 15 0.601 0.577 8.0E-25
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy 		group 0.500 definitive 1.000 5 0 2001 2014
Entrez Id: 23746
Gene Symbol: AIPL1
AIPL1 		aryl hydrocarbon receptor interacting protein like 1 0.644 0.346 1.2E-05
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy 		group 0.200 None 1.000 4 0 2004 2017
Entrez Id: 3815
Gene Symbol: KIT
KIT 		KIT proto-oncogene, receptor tyrosine kinase 0.366 0.808 0.98
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		group 1.000 definitive 0.951 4 0 1995 2020
Entrez Id: 4763
Gene Symbol: NF1
NF1 		neurofibromin 1 0.440 0.885 0.90
CUI: C0162678
Disease: Neurofibromatoses
Neurofibromatoses 		group 1.000 strong 0.941 4 0 1992 2019
Entrez Id: 5053
Gene Symbol: PAH
PAH 		phenylalanine hydroxylase 0.516 0.769 6.4E-23
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		group 0.800 None 0.985 4 0 1977 2020
Entrez Id: 5158
Gene Symbol: PDE6B
PDE6B 		phosphodiesterase 6B 0.626 0.346 2.6E-27
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy 		group 0.200 None 1.000 4 0 2000 2013
Entrez Id: 6101
Gene Symbol: RP1
RP1 		RP1 axonemal microtubule associated 0.663 0.462 4.4E-13
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy 		group 0.200 None 1.000 4 0 2002 2014
Entrez Id: 6103
Gene Symbol: RPGR
RPGR 		retinitis pigmentosa GTPase regulator 0.536 0.692 1.00
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy 		group 0.200 None 1.000 4 0 2000 2012
Entrez Id: 8048
Gene Symbol: CSRP3
CSRP3 		cysteine and glycine rich protein 3 0.572 0.731 1.6E-04
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		group 0.370 None 1.000 4 0 1997 2019
Entrez Id: 84059
Gene Symbol: ADGRV1
ADGRV1 		adhesion G protein-coupled receptor V1 0.572 0.731 3.2E-39
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy 		group 0.200 None 1.000 4 0 2004 2007
Entrez Id: 10083
Gene Symbol: USH1C
USH1C 		USH1 protein network component harmonin 0.628 0.538 4.0E-18
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy 		group 0.500 definitive 1.000 3 0 2000 2014
Entrez Id: 11277
Gene Symbol: TREX1
TREX1 		three prime repair exonuclease 1 0.517 0.808 0.58
CUI: C0477365
Disease: Other specified degenerative diseases of nervous system
Other specified degenerative diseases of nervous system 		group 0.200 None 1.000 3 0 2004 2016