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: 6927
Gene Symbol: HNF1A
HNF1A
HNF1 homeobox A 0.478 0.846 0.96
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
disease 1.000 strong 0.985 17 0 1996 2020
Entrez Id: 7490
Gene Symbol: WT1
WT1
WT1 transcription factor 0.422 0.808 1.00
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome
disease 1.000 None 0.982 17 0 1991 2018
Entrez Id: 7253
Gene Symbol: TSHR
TSHR
thyroid stimulating hormone receptor 0.486 0.808 3.0E-15
CUI: C1836706
Disease: Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Nonautoimmune
disease 0.800 None 1.000 16 0 1994 2014
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
fibrillin 1 0.417 0.846 1.00
CUI: C4310796
Disease: MARFAN LIPODYSTROPHY SYNDROME
MARFAN LIPODYSTROPHY SYNDROME
disease 0.710 None 1.000 8 0 1992 2016
Entrez Id: 2492
Gene Symbol: FSHR
FSHR
follicle stimulating hormone receptor 0.539 0.654 1.4E-11
CUI: C0949595
Disease: Gonadal Dysgenesis, 46,XX
Gonadal Dysgenesis, 46,XX
disease 0.750 strong 1.000 7 0 1995 2016
Entrez Id: 27235
Gene Symbol: COQ2
COQ2
coenzyme Q2, polyprenyltransferase 0.590 0.731 1.3E-03
CUI: C3551954
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1
COENZYME Q10 DEFICIENCY, PRIMARY, 1
disease 0.700 None 1.000 7 0 2006 2018
Entrez Id: 1120
Gene Symbol: CHKB
CHKB
choline kinase beta 0.663 0.423 3.8E-07
Muscular Dystrophy, Congenital, Megaconial Type
disease 0.930 None 1.000 6 0 2006 2019
Entrez Id: 1756
Gene Symbol: DMD
DMD
dystrophin 0.423 0.923 1.00
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
disease 1.000 strong 0.980 6 0 1981 2020
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.391 0.846 1.6E-05
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder)
disease 0.800 None 0.972 6 0 1995 2020
Entrez Id: 23328
Gene Symbol: SASH1
SASH1
SAM and SH3 domain containing 1 0.599 0.538 1.8E-03
Dyschromatosis Universalis Hereditaria 1
disease 0.700 strong 1.000 6 0 2013 2020
Entrez Id: 55737
Gene Symbol: VPS35
VPS35
VPS35 retromer complex component 0.656 0.500 0.97
CUI: C3280133
Disease: PARKINSON DISEASE 17
PARKINSON DISEASE 17
disease 0.900 None 1.000 6 0 2011 2015
Entrez Id: 64421
Gene Symbol: DCLRE1C
DCLRE1C
DNA cross-link repair 1C 0.544 0.808 2.5E-07
Severe combined immunodeficiency with sensitivity to ionizing radiation
disease 0.910 strong 1.000 6 0 2001 2015
Entrez Id: 83706
Gene Symbol: FERMT3
FERMT3
fermitin family member 3 0.638 0.538 2.6E-04
Leukocyte Adhesion Deficiency, Type III
disease 0.930 definitive 1.000 6 0 2006 2020
Entrez Id: 26121
Gene Symbol: PRPF31
PRPF31
pre-mRNA processing factor 31 0.531 0.731 0.98
CUI: C1838601
Disease: Retinitis Pigmentosa 11
Retinitis Pigmentosa 11
disease 0.950 None 1.000 5 0 1996 2011
Entrez Id: 4261
Gene Symbol: CIITA
CIITA
class II major histocompatibility complex transactivator 0.536 0.808 1.4E-07
CUI: C2931418
Disease: Bare lymphocyte syndrome 2
Bare lymphocyte syndrome 2
disease 0.720 None 1.000 5 0 1993 2005
Entrez Id: 55775
Gene Symbol: TDP1
TDP1
tyrosyl-DNA phosphodiesterase 1 0.612 0.538 1.3E-17
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY
disease 0.900 limited 0.923 5 0 2002 2020
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
transforming growth factor beta 1 0.287 0.962 3.7E-02
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome
disease 0.800 None 1.000 5 0 2000 2019
Entrez Id: 7490
Gene Symbol: WT1
WT1
WT1 transcription factor 0.422 0.808 1.00
CUI: C3151568
Disease: NEPHROTIC SYNDROME, TYPE 4
NEPHROTIC SYNDROME, TYPE 4
disease 0.700 None 1.000 5 0 1992 2013
Entrez Id: 801
Gene Symbol: CALM1
CALM1
calmodulin 1 0.472 0.808 0.94
CUI: C4015671
Disease: LONG QT SYNDROME 14
LONG QT SYNDROME 14
disease 0.700 strong 1.000 5 0 2005 2016
Entrez Id: 8726
Gene Symbol: EED
EED
embryonic ectoderm development 0.588 0.615 1.00
CUI: C4479654
Disease: COHEN-GIBSON SYNDROME
COHEN-GIBSON SYNDROME
disease 0.610 strong 1.000 5 0 2015 2019
Entrez Id: 9131
Gene Symbol: AIFM1
AIFM1
apoptosis inducing factor mitochondria associated 1 0.527 0.769 1.00
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6
disease 0.700 None 1.000 5 0 1985 2016
Entrez Id: 167691
Gene Symbol: LCA5
LCA5
lebercilin LCA5 0.674 0.269 4.1E-05
CUI: C1858301
Disease: LEBER CONGENITAL AMAUROSIS 5
LEBER CONGENITAL AMAUROSIS 5
disease 0.910 None 1.000 4 0 2007 2017
Entrez Id: 1729
Gene Symbol: DIAPH1
DIAPH1
diaphanous related formin 1 0.623 0.654 0.92
DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)
disease 0.610 definitive 1.000 4 0 1997 2017
Entrez Id: 2218
Gene Symbol: FKTN
FKTN
fukutin 0.511 0.692 8.7E-07
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4
disease 0.900 strong 1.000 4 0 2001 2016
Entrez Id: 2895
Gene Symbol: GRID2
GRID2
glutamate ionotropic receptor delta type subunit 2 0.670 0.500 1.00
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18
disease 0.900 None 1.000 4 0 2010 2016