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: 51149
Gene Symbol: MRNIP
MRNIP
MRN complex interacting protein 0.931 1.3E-05
CUI: C4085252
Disease: PAGET DISEASE OF BONE 3
PAGET DISEASE OF BONE 3
disease 0.100 None 1.000 21 2 2002 2016
Entrez Id: 51149
Gene Symbol: MRNIP
MRNIP
MRN complex interacting protein 0.931 1.3E-05
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3
disease 0.100 None 1.000 11 1 2002 2015
Entrez Id: 151613
Gene Symbol: TTC14
TTC14
tetratricopeptide repeat domain 14 1.2E-09
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
group 0.100 None 1.000 3 4 2011 2013
Entrez Id: 100506025
Gene Symbol: CRPPA-AS1
CRPPA-AS1
CRPPA antisense RNA 1 0.890
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7
disease 0.100 None 1.000 2 1 2012 2013
Entrez Id: 100506025
Gene Symbol: CRPPA-AS1
CRPPA-AS1
CRPPA antisense RNA 1 0.890
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7
disease 0.100 None 1.000 2 2 2012 2013
Entrez Id: 100652883
Gene Symbol: ALOX15P1
ALOX15P1
arachidonate 15-lipoxygenase pseudogene 1 1.000
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, WITH AMELOGENESIS IMPERFECTA
disease 0.100 None 1.000 2 5 2016 2017
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
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, WITH AMELOGENESIS IMPERFECTA
disease 0.100 None 1.000 2 5 2016 2017
Entrez Id: 100131047
Gene Symbol: DNAH8-AS1
DNAH8-AS1
DNAH8 antisense RNA 1
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
group 0.100 None 1.000 1 6 2014 2014
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: 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: 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: 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
Entrez Id: 100129427
Gene Symbol: DDC-AS1
DDC-AS1
DDC antisense RNA 1 1.000
Deficiency of aromatic-L-amino-acid decarboxylase
disease 0.100 None 0 2
Entrez Id: 100130015
Gene Symbol: URAHP
URAHP
urate (hydroxyiso-) hydrolase, pseudogene 1.000
CUI: C4225230
Disease: CILIARY DYSKINESIA, PRIMARY, 33
CILIARY DYSKINESIA, PRIMARY, 33
disease 0.100 None 0 1
Entrez Id: 100130894
Gene Symbol: VAC14-AS1
VAC14-AS1
VAC14 antisense RNA 1 1.000
STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET
disease 0.100 None 0 1
Entrez Id: 100506025
Gene Symbol: CRPPA-AS1
CRPPA-AS1
CRPPA antisense RNA 1 0.890
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8
disease 0.100 None 0 1
Entrez Id: 100506826
Gene Symbol: MYLK-AS1
MYLK-AS1
MYLK antisense RNA 1 0.931
AORTIC ANEURYSM, FAMILIAL THORACIC 7
disease 0.100 None 0 1
Entrez Id: 100506826
Gene Symbol: MYLK-AS1
MYLK-AS1
MYLK antisense RNA 1 0.931
Familial thoracic aortic aneurysm and aortic dissection
disease 0.100 None 0 1
Entrez Id: 100533483
Gene Symbol: DNAAF4-CCPG1
DNAAF4-CCPG1
DNAAF4-CCPG1 readthrough (NMD candidate) 1.000
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
group 0.100 None 0 6
Entrez Id: 100533483
Gene Symbol: DNAAF4-CCPG1
DNAAF4-CCPG1
DNAAF4-CCPG1 readthrough (NMD candidate) 1.000
CUI: C3809641
Disease: CILIARY DYSKINESIA, PRIMARY, 25
CILIARY DYSKINESIA, PRIMARY, 25
disease 0.100 None 0 2
Entrez Id: 100996307
Gene Symbol: LIPE-AS1
LIPE-AS1
LIPE antisense RNA 1 1.000
LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6
disease 0.100 None 0 2
Entrez Id: 101927117
Gene Symbol: PLCG1-AS1
PLCG1-AS1
PLCG1 antisense RNA 1
DNA TOPOISOMERASE I, CAMPTOTHECIN-RESISTANT
phenotype 0.100 None 0 1
Entrez Id: 101927256
Gene Symbol: CARD11-AS1
CARD11-AS1
CARD11 antisense RNA 1 1.000
B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY
disease 0.100 None 0 3
Entrez Id: 101927275
Gene Symbol: NDUFV2-AS1
NDUFV2-AS1
NDUFV2 antisense RNA 1 1.000
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7
disease 0.100 None 0 1