Source: UNIPROT

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: 3849
Gene Symbol: KRT2
KRT2 		keratin 2 0.760 0.154 1.3E-03
CUI: C0432306
Disease: Ichthyosis Bullosa of Siemens
Ichthyosis Bullosa of Siemens 		disease 0.800 limited 1.000 15 12 1994 2005
Entrez Id: 3000
Gene Symbol: GUCY2D
GUCY2D 		guanylate cyclase 2D, retinal 0.570 0.769 6.5E-10
CUI: C1866293
Disease: Retinal cone dystrophy 2
Retinal cone dystrophy 2 		disease 0.980 limited 1.000 14 4 1996 2020
Entrez Id: 6247
Gene Symbol: RS1
RS1 		retinoschisin 1 0.686 0.500 0.96
CUI: C3714753
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE
RETINOSCHISIS 1, X-LINKED, JUVENILE 		disease 0.810 limited 1.000 13 56 1997 2017
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2 		peripherin 2 0.551 0.500 0.12
CUI: C1842475
Disease: Retinitis Pigmentosa 7
Retinitis Pigmentosa 7 		disease 0.910 limited 1.000 11 18 1985 2016
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1 		ATP binding cassette subfamily A member 1 0.467 0.846 1.5E-13
CUI: C1704429
Disease: Hypoalphalipoproteinemia, Familial
Hypoalphalipoproteinemia, Familial 		disease 0.800 limited 0.972 7 5 1999 2017
Entrez Id: 5158
Gene Symbol: PDE6B
PDE6B 		phosphodiesterase 6B 0.626 0.346 2.6E-27
CUI: C3151107
Disease: RETINITIS PIGMENTOSA 40 (disorder)
RETINITIS PIGMENTOSA 40 (disorder) 		disease 0.900 limited 1.000 7 7 1993 2016
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 6 6 1999 2018
Entrez Id: 1585
Gene Symbol: CYP11B2
CYP11B2 		cytochrome P450 family 11 subfamily B member 2 0.553 0.615 7.1E-19
CUI: C3463917
Disease: Corticosterone Methyl Oxidase Type II Deficiency
Corticosterone Methyl Oxidase Type II Deficiency 		disease 0.610 limited 1.000 5 5 1992 2014
Entrez Id: 4353
Gene Symbol: MPO
MPO 		myeloperoxidase 0.377 0.923 7.1E-15
CUI: C0398595
Disease: Myeloperoxidase Deficiency
Myeloperoxidase Deficiency 		disease 0.800 limited 0.824 5 3 1979 2019
Entrez Id: 5199
Gene Symbol: CFP
CFP 		complement factor properdin 0.573 0.692 0.69
CUI: C1839454
Disease: PROPERDIN DEFICIENCY, X-LINKED
PROPERDIN DEFICIENCY, X-LINKED 		disease 0.700 limited 1.000 5 3 1995 2019
Entrez Id: 55775
Gene Symbol: TDP1
TDP1 		tyrosyl-DNA phosphodiesterase 1 0.612 0.538 1.3E-17
CUI: C1846574
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 		disease 0.900 limited 0.923 5 0 2002 2020
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2 		peripherin 2 0.551 0.500 0.12
CUI: C1842914
Disease: Adult-Onset Vitelliform Macular Dystrophy
Adult-Onset Vitelliform Macular Dystrophy 		disease 0.750 limited 1.000 5 6 1997 2016
Entrez Id: 7078
Gene Symbol: TIMP3
TIMP3 		TIMP metallopeptidase inhibitor 3 0.445 0.923 0.63
CUI: C1850938
Disease: FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY 		disease 1.000 limited 1.000 5 4 1994 2019
Entrez Id: 100134444
Gene Symbol: KCNJ18
KCNJ18 		potassium inwardly rectifying channel subfamily J member 18 0.722 0.346
CUI: C2750473
Disease: THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2
THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2 		disease 0.700 limited 1.000 4 5 2010 2016
Entrez Id: 118813
Gene Symbol: ZFYVE27
ZFYVE27 		zinc finger FYVE-type containing 27 0.805 0.308 1.1E-09
CUI: C1853251
Disease: Spastic Paraplegia 33, Autosomal Dominant
Spastic Paraplegia 33, Autosomal Dominant 		disease 0.700 limited 1.000 4 1 2006 2018
Entrez Id: 137814
Gene Symbol: NKX2-6
NKX2-6 		NK2 homeobox 6 0.695 0.385 1.9E-02
CUI: C1857586
Disease: CONOTRUNCAL HEART MALFORMATIONS (disorder)
CONOTRUNCAL HEART MALFORMATIONS (disorder) 		disease 0.700 limited 1.000 4 1 2005 2015
Entrez Id: 2202
Gene Symbol: EFEMP1
EFEMP1 		EGF containing fibulin extracellular matrix protein 1 0.540 0.769 1.00
CUI: C1832174
Disease: DOYNE HONEYCOMB RETINAL DYSTROPHY
DOYNE HONEYCOMB RETINAL DYSTROPHY 		disease 1.000 limited 0.947 4 1 1999 2018
Entrez Id: 23171
Gene Symbol: GPD1L
GPD1L 		glycerol-3-phosphate dehydrogenase 1 like 0.674 0.308 3.8E-02
CUI: C2673193
Disease: Brugada Syndrome 2
Brugada Syndrome 2 		disease 0.700 limited 1.000 4 4 2005 2009
Entrez Id: 25981
Gene Symbol: DNAH1
DNAH1 		dynein axonemal heavy chain 1 0.656 0.615 1.5E-26
CUI: C4539783
Disease: SPERMATOGENIC FAILURE 18
SPERMATOGENIC FAILURE 18 		disease 0.600 limited 1.000 4 7 2001 2018
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2 		peripherin 2 0.551 0.500 0.12
CUI: C2751290
Disease: CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2
CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2 		disease 0.700 limited 1.000 4 2 2006 2016
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2 		peripherin 2 0.551 0.500 0.12
CUI: C4551999
Disease: MACULAR DYSTROPHY, PATTERNED, 1
MACULAR DYSTROPHY, PATTERNED, 1 		disease 0.600 limited 1.000 4 9 1993 2016
Entrez Id: 6010
Gene Symbol: RHO
RHO 		rhodopsin 0.525 0.769 1.3E-04
CUI: C1864869
Disease: Night Blindness, Congenital Stationary, Autosomal Dominant 1
Night Blindness, Congenital Stationary, Autosomal Dominant 1 		disease 0.900 limited 1.000 4 3 1993 2011
Entrez Id: 10371
Gene Symbol: SEMA3A
SEMA3A 		semaphorin 3A 0.500 0.808 0.98
CUI: C3554021
Disease: HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA 		disease 0.600 limited 1.000 3 9 2012 2014
Entrez Id: 1071
Gene Symbol: CETP
CETP 		cholesteryl ester transfer protein 0.512 0.731 1.2E-23
CUI: C3149462
Disease: HYPERALPHALIPOPROTEINEMIA 1
HYPERALPHALIPOPROTEINEMIA 1 		disease 0.800 limited 0.933 3 2 1990 2018
Entrez Id: 23554
Gene Symbol: TSPAN12
TSPAN12 		tetraspanin 12 0.656 0.500 0.69
CUI: C2750079
Disease: Exudative Vitreoretinopathy 5
Exudative Vitreoretinopathy 5 		disease 0.700 limited 1.000 3 5 2010 2012