Source: CLINVAR

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: 256126
Gene Symbol: SYCE2
SYCE2 		synaptonemal complex central element protein 2 1.000 0.115 0.28
CUI: C0268595
Disease: Glutaric aciduria, type 1
Glutaric aciduria, type 1 		disease 0.100 None 1.000 20 20 1991 2019
Entrez Id: 100132529
Gene Symbol: TAT-AS1
TAT-AS1 		TAT antisense RNA 1 1.000 0.115
CUI: C0268487
Disease: Tyrosine Transaminase Deficiency Disease
Tyrosine Transaminase Deficiency Disease 		disease 0.100 None 1.000 6 18 1992 2017
Entrez Id: 284346
Gene Symbol: ZNF575
ZNF575 		zinc finger protein 575 1.000 0.192 0.11
CUI: C1865349
Disease: Ethylmalonic encephalopathy
Ethylmalonic encephalopathy 		disease 0.100 None 1.000 6 13 2004 2018
Entrez Id: 105378991
Gene Symbol: ERCC8-AS1
ERCC8-AS1 		ERCC8 antisense RNA 1 1.000 0.154
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I 		disease 0.100 None 1.000 5 6 2006 2017
Entrez Id: 105371260
Gene Symbol: LIX1L-AS1
LIX1L-AS1 		LIX1L antisense RNA 1 1.000 0.115
CUI: C0175703
Disease: Thrombocytopenia-Absent Radius Syndrome
Thrombocytopenia-Absent Radius Syndrome 		disease 0.100 None 1.000 3 4 2012 2017
Entrez Id: 25880
Gene Symbol: TMEM186
TMEM186 		transmembrane protein 186 1.000 0.077 5.2E-05
CUI: C0342708
Disease: Gamma aminobutyric acid transaminase deficiency
Gamma aminobutyric acid transaminase deficiency 		disease 0.100 None 1.000 3 4 2010 2019
Entrez Id: 100652883
Gene Symbol: ALOX15P1
ALOX15P1 		arachidonate 15-lipoxygenase pseudogene 1 1.000
CUI: C4014621
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, WITH AMELOGENESIS IMPERFECTA
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, WITH AMELOGENESIS IMPERFECTA 		disease 0.100 None 1.000 2 5 2016 2017
Entrez Id: 101927631
Gene Symbol: ADNP-AS1
ADNP-AS1 		ADNP antisense RNA 1 1.000 0.077
CUI: C1837396
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie 		disease 0.100 None 1.000 2 4 2013 2016
Entrez Id: 197135
Gene Symbol: PATL2
PATL2 		PAT1 homolog 2 1.000 1.2E-11
CUI: C4540284
Disease: OOCYTE MATURATION DEFECT 4
OOCYTE MATURATION DEFECT 4 		disease 0.400 None 1.000 2 6 2017 2017
Entrez Id: 388327
Gene Symbol: C17orf100
C17orf100 		chromosome 17 open reading frame 100 1.000 0.13
CUI: C4014621
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, WITH AMELOGENESIS IMPERFECTA
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, WITH AMELOGENESIS IMPERFECTA 		disease 0.100 None 1.000 2 5 2016 2017
Entrez Id: 100652759
Gene Symbol: PRICKLE2-AS1
PRICKLE2-AS1 		PRICKLE2 antisense RNA 1 1.000 0.154
CUI: C1843851
Disease: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 		disease 0.100 None 1.000 1 1 2011 2011
Entrez Id: 101928098
Gene Symbol: ALG14-AS1
ALG14-AS1 		ALG14 antisense RNA 1 1.000
CUI: C4015596
Disease: MYASTHENIC SYNDROME, CONGENITAL, 15
MYASTHENIC SYNDROME, CONGENITAL, 15 		disease 0.100 None 1.000 1 2 2017 2017
Entrez Id: 10302
Gene Symbol: SNAPC5
SNAPC5 		small nuclear RNA activating complex polypeptide 5 1.000 0.038 2.0E-04
CUI: C0025202
Disease: melanoma
melanoma 		disease 0.100 None 1.000 1 1 2011 2011
Entrez Id: 105369942
Gene Symbol: LINC02456
LINC02456 		long intergenic non-protein coding RNA 2456 1.000 0.115
CUI: C1837475
Disease: Insulin-Like Growth Factor I Deficiency
Insulin-Like Growth Factor I Deficiency 		disease 0.100 None 1.000 1 2 2014 2014
Entrez Id: 107985578
Gene Symbol: NCF4-AS1
NCF4-AS1 		NCF4 antisense RNA 1 1.000 0.038
CUI: C0018203
Disease: Chronic granulomatous disease
Chronic granulomatous disease 		group 0.100 None 1.000 1 2 2009 2009
Entrez Id: 107986809
Gene Symbol: ELN-AS1
ELN-AS1 		ELN antisense RNA 1 1.000 0.038
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		disease 0.100 None 1.000 1 7 1997 1997
Entrez Id: 129531
Gene Symbol: MITD1
MITD1 		microtubule interacting and trafficking domain containing 1 1.000 1.1E-05
CUI: C4225379
Disease: LIPOYLTRANSFERASE 1 DEFICIENCY
LIPOYLTRANSFERASE 1 DEFICIENCY 		disease 0.100 None 1.000 1 4 2013 2013
Entrez Id: 25880
Gene Symbol: TMEM186
TMEM186 		transmembrane protein 186 1.000 0.077 5.2E-05
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		phenotype 0.100 None 1.000 1 1 2010 2010
Entrez Id: 25880
Gene Symbol: TMEM186
TMEM186 		transmembrane protein 186 1.000 0.077 5.2E-05
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		phenotype 0.100 None 1.000 1 1 2010 2010
Entrez Id: 25880
Gene Symbol: TMEM186
TMEM186 		transmembrane protein 186 1.000 0.077 5.2E-05
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype 0.100 None 1.000 1 1 2010 2010
Entrez Id: 25880
Gene Symbol: TMEM186
TMEM186 		transmembrane protein 186 1.000 0.077 5.2E-05
CUI: C2674422
Disease: Seizures, intractable
Seizures, intractable 		phenotype 0.100 None 1.000 1 1 2010 2010
Entrez Id: 339231
Gene Symbol: ARL16
ARL16 		ADP ribosylation factor like GTPase 16 1.000 0.038 1.7E-06
CUI: C0036346
Disease: Schizophrenia, Childhood
Schizophrenia, Childhood 		disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 347688
Gene Symbol: TUBB8
TUBB8 		tubulin beta 8 class VIII 1.000 1.8E-02
CUI: C4227845
Disease: Oocyte arrest at metaphase I
Oocyte arrest at metaphase I 		phenotype 0.100 None 1.000 1 1 2020 2020
Entrez Id: 360163
Gene Symbol: CYCTP
CYCTP 		cytochrome c, testis, pseudogene 1.000 0.038
CUI: C1864851
Disease: Pigmented Nodular Adrenocortical Disease, Primary, 2
Pigmented Nodular Adrenocortical Disease, Primary, 2 		disease 0.100 None 1.000 1 1 2006 2006
Entrez Id: 5188
Gene Symbol: GATB
GATB 		glutamyl-tRNA amidotransferase subunit B 1.000 4.0E-10
CUI: C3532239
Disease: Mitochondrial cardiomyopathy
Mitochondrial cardiomyopathy 		disease 0.100 None 1.000 1 2 2018 2018