Source: ALL

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: 100529207
Gene Symbol: RAD51L3-RFFL
RAD51L3-RFFL
RAD51L3-RFFL readthrough 1.000 0.172 2.8E-06
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 4
phenotype 0.100 24 30 2000 2017
Entrez Id: 100529207
Gene Symbol: RAD51L3-RFFL
RAD51L3-RFFL
RAD51L3-RFFL readthrough 1.000 0.172 2.8E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
group 0.100 19 32 1982 2018
Entrez Id: 100529207
Gene Symbol: RAD51L3-RFFL
RAD51L3-RFFL
RAD51L3-RFFL readthrough 1.000 0.172 2.8E-06
Hereditary Breast and Ovarian Cancer Syndrome
disease 0.100 12 3 2011 2017
Entrez Id: 696
Gene Symbol: BTN1A1
BTN1A1
butyrophilin subfamily 1 member A1 1.000 0.103 1.1E-08
Juvenile Neuronal Ceroid Lipofuscinosis
disease 0.100 0.909 11 0 1999 2012
Entrez Id: 22947
Gene Symbol: DUX4L1
DUX4L1
double homeobox 4 like 1 1.000 0.103
Muscular Dystrophy, Facioscapulohumeral
disease 0.390 0.875 9 0 2007 2016
Entrez Id: 256126
Gene Symbol: SYCE2
SYCE2
synaptonemal complex central element protein 2 1.000 0.103 0.27
CUI: C0268595
Disease: Glutaric aciduria, type 1
Glutaric aciduria, type 1
disease 0.100 9 18 1996 2014
Entrez Id: 728773
Gene Symbol: PABPC1P2
PABPC1P2
poly(A) binding protein cytoplasmic 1 pseudogene 2 1.000 0.103
CUI: C0270952
Disease: Muscular Dystrophy, Oculopharyngeal
Muscular Dystrophy, Oculopharyngeal
disease 0.090 1.000 9 0 1998 2002
Entrez Id: 107987484
Gene Symbol: LOC107987484
LOC107987484
double homeobox protein 4 1.000 0.103
Muscular Dystrophy, Facioscapulohumeral
disease 0.080 0.875 8 0 2012 2016
Entrez Id: 107987485
Gene Symbol: LOC107987485
LOC107987485
double homeobox protein 4 1.000 0.103
Muscular Dystrophy, Facioscapulohumeral
disease 0.080 0.875 8 0 2012 2016
Entrez Id: 107987486
Gene Symbol: LOC107987486
LOC107987486
double homeobox protein 4 1.000 0.103
Muscular Dystrophy, Facioscapulohumeral
disease 0.080 0.875 8 0 2012 2016
Entrez Id: 107987487
Gene Symbol: LOC107987487
LOC107987487
double homeobox protein 4 1.000 0.103
Muscular Dystrophy, Facioscapulohumeral
disease 0.080 0.875 8 0 2012 2016
Entrez Id: 107987488
Gene Symbol: LOC107987488
LOC107987488
double homeobox protein 4 1.000 0.103
Muscular Dystrophy, Facioscapulohumeral
disease 0.080 0.875 8 0 2012 2016
Entrez Id: 107987489
Gene Symbol: LOC107987489
LOC107987489
double homeobox protein 4 1.000 0.103
Muscular Dystrophy, Facioscapulohumeral
disease 0.080 0.875 8 0 2012 2016
Entrez Id: 107987490
Gene Symbol: LOC107987490
LOC107987490
double homeobox protein 4 1.000 0.103
Muscular Dystrophy, Facioscapulohumeral
disease 0.080 0.875 8 0 2012 2016
Entrez Id: 107987491
Gene Symbol: LOC107987491
LOC107987491
double homeobox protein 4 1.000 0.103
Muscular Dystrophy, Facioscapulohumeral
disease 0.080 0.875 8 0 2012 2016
Entrez Id: 2112
Gene Symbol: ETM2
ETM2
essential tremor 2 1.000 0.034
CUI: C0270736
Disease: Essential Tremor
Essential Tremor
disease 0.070 1.000 7 0 2003 2014
Entrez Id: 84286
Gene Symbol: TMEM175
TMEM175
transmembrane protein 175 1.000 0.034 1.9E-08
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
disease 0.120 1.000 7 3 2011 2017
Entrez Id: 326342
Gene Symbol: ADGRE4P
ADGRE4P
adhesion G protein-coupled receptor E4, pseudogene 1.000 0.069
CUI: C0948380
Disease: Colorectal cancer metastatic
Colorectal cancer metastatic
disease 0.070 1.000 7 0 2016 2018
Entrez Id: 100506462
Gene Symbol: SRD5A3-AS1
SRD5A3-AS1
SRD5A3 antisense RNA 1 1.000 0.069
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group 0.100 7 1 2010 2017
Entrez Id: 51693
Gene Symbol: TRAPPC2L
TRAPPC2L
trafficking protein particle complex 2 like 1.000 0.103 3.4E-10
CUI: C0086651
Disease: Mucopolysaccharidosis, MPS-IV-A
Mucopolysaccharidosis, MPS-IV-A
disease 0.100 6 4 1997 2017
Entrez Id: 126859
Gene Symbol: AXDND1
AXDND1
axonemal dynein light chain domain containing 1 1.000 0.069 3.1E-25
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome
disease 0.100 6 6 2004 2015
Entrez Id: 158219
Gene Symbol: TTC39B
TTC39B
tetratricopeptide repeat domain 39B 1.000 0.034 1.3E-14
High density lipoprotein measurement
phenotype 0.100 6 4 2009 2017
Entrez Id: 100129583
Gene Symbol: FAM47E
FAM47E
family with sequence similarity 47 member E 1.000 0.034 1.7E-03
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
disease 0.110 1.000 6 3 2010 2017
Entrez Id: 100631383
Gene Symbol: FAM47E-STBD1
FAM47E-STBD1
FAM47E-STBD1 readthrough 1.000 0.034 8.2E-12
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
disease 0.110 1.000 6 3 2010 2017
Entrez Id: 102723475
Gene Symbol: KCNE1B
KCNE1B
potassium voltage-gated channel subfamily E regulatory subunit 1B 1.000 0.069
CUI: C0022387
Disease: Jervell-Lange Nielsen Syndrome
Jervell-Lange Nielsen Syndrome
disease 0.200 6 0 1996 2005