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: 10002
Gene Symbol: NR2E3
NR2E3
nuclear receptor subfamily 2 group E member 3 0.603 0.500
CUI: C1970163
Disease: RETINITIS PIGMENTOSA 37 (disorder)
RETINITIS PIGMENTOSA 37 (disorder)
disease 0.700 limited 1.000 16 6 2000 2016
Entrez Id: 100533107
Gene Symbol: RTEL1-TNFRSF6B
RTEL1-TNFRSF6B
RTEL1-TNFRSF6B readthrough (NMD candidate) 0.682 0.385
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
disease 0.100 None 1.000 16 36 2009 2017
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3
nuclear receptor subfamily 2 group E member 3 0.603 0.500
CUI: C0339541
Disease: Goldmann-Favre syndrome (disorder)
Goldmann-Favre syndrome (disorder)
disease 0.650 None 1.000 15 1 2000 2017
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3
nuclear receptor subfamily 2 group E member 3 0.603 0.500
CUI: C1849394
Disease: Enhanced S-Cone Syndrome
Enhanced S-Cone Syndrome
disease 1.000 None 0.974 15 5 2000 2019
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
TTN antisense RNA 1 0.599 0.577
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
group 0.100 None 1.000 15 229 2002 2019
Entrez Id: 100533107
Gene Symbol: RTEL1-TNFRSF6B
RTEL1-TNFRSF6B
RTEL1-TNFRSF6B readthrough (NMD candidate) 0.682 0.385
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3
disease 0.100 None 1.000 15 13 2009 2017
Entrez Id: 110806290
Gene Symbol: MYOCOS
MYOCOS
myocilin opposite strand 0.805 0.192
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle
disease 0.100 None 1.000 15 2 1997 2014
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
TTN antisense RNA 1 0.599 0.577
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 1.000 14 2 1991 2014
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
TTN antisense RNA 1 0.599 0.577
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 1.000 14 3 1991 2014
Entrez Id: 102465534
Gene Symbol: MIR6886
MIR6886
microRNA 6886 0.861 0.077
Familial hypercholesterolemia - homozygous
disease 0.100 None 1.000 12 11 1995 2016
Entrez Id: 104472715
Gene Symbol: SNHG14
SNHG14
small nucleolar RNA host gene 14 0.656 0.577
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 12 3 1990 2015
Entrez Id: 104472715
Gene Symbol: SNHG14
SNHG14
small nucleolar RNA host gene 14 0.656 0.577
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 12 2 1990 2015
Entrez Id: 441094
Gene Symbol: NR2F1-AS1
NR2F1-AS1
NR2F1 antisense RNA 1 0.780 0.308
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 1.000 12 1 1999 2017
Entrez Id: 400618
Gene Symbol: SOX9-AS1
SOX9-AS1
SOX9 antisense RNA 1 0.839 0.269
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 11 1 1995 2018
Entrez Id: 4537
Gene Symbol: ND3
ND3
NADH dehydrogenase, subunit 3 (complex I) 0.604 0.654
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
disease 0.490 None 1.000 11 16 2001 2019
Entrez Id: 4540
Gene Symbol: ND5
ND5
NADH dehydrogenase, subunit 5 (complex I) 0.531 0.769
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
disease 0.470 None 1.000 11 8 1997 2019
Entrez Id: 100287722
Gene Symbol: AP4B1-AS1
AP4B1-AS1
AP4B1 antisense RNA 1 0.805 0.231
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 1.000 10 3 2009 2016
Entrez Id: 101927761
Gene Symbol: TH2LCRR
TH2LCRR
T helper type 2 locus control region associated RNA 0.751 0.385
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
group 0.100 None 1.000 10 22 2000 2017
Entrez Id: 104472715
Gene Symbol: SNHG14
SNHG14
small nucleolar RNA host gene 14 0.656 0.577
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome
disease 0.170 None 1.000 10 122 1999 2019
Entrez Id: 105379054
Gene Symbol: VCAN-AS1
VCAN-AS1
VCAN antisense RNA 1 0.861 0.192
Hyaloideoretinal degeneration of Wagner
disease 0.100 None 1.000 10 6 2005 2013
Entrez Id: 149775
Gene Symbol: GNAS-AS1
GNAS-AS1
GNAS antisense RNA 1 0.729 0.346
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 10 1 1993 2017
Entrez Id: 100533107
Gene Symbol: RTEL1-TNFRSF6B
RTEL1-TNFRSF6B
RTEL1-TNFRSF6B readthrough (NMD candidate) 0.682 0.385
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita
disease 0.100 None 1.000 9 12 2013 2015
Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1
SCN1A and SCN9A antisense RNA 1 0.636 0.346
Generalized Epilepsy With Febrile Seizures Plus, 7
disease 0.100 None 1.000 9 22 1979 2014
Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1
SCN1A and SCN9A antisense RNA 1 0.636 0.346
Neuropathy, Hereditary Sensory And Autonomic, Type IIA
disease 0.100 None 1.000 9 21 1979 2014
Entrez Id: 4535
Gene Symbol: ND1
ND1
NADH dehydrogenase, subunit 1 (complex I) 0.522 0.769
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber
disease 0.700 None 1.000 9 9 1991 2018