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: 54581
Gene Symbol: SCAND2P
SCAND2P 		SCAN domain containing 2 pseudogene 1.000 0.231
CUI: C4551772
Disease: GALLOWAY-MOWAT SYNDROME 1
GALLOWAY-MOWAT SYNDROME 1 		disease 0.100 None 1.000 1 7 2014 2014
Entrez Id: 79957
Gene Symbol: PAQR6
PAQR6 		progestin and adipoQ receptor family member 6 1.000 0.077 6.6E-05
CUI: C1833683
Disease: NEPHROLITHIASIS, CALCIUM OXALATE
NEPHROLITHIASIS, CALCIUM OXALATE 		disease 0.100 None 1.000 1 1 2014 2014
Entrez Id: 84060
Gene Symbol: RBM48
RBM48 		RNA binding motif protein 48 1.000 0.077 1.5E-07
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 84070
Gene Symbol: FAM186B
FAM186B 		family with sequence similarity 186 member B 1.000 0.077 5.5E-24
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 100126793
Gene Symbol: GHRLOS
GHRLOS 		ghrelin opposite strand/antisense RNA 1.000 0.077
CUI: C0028754
Disease: Obesity
Obesity 		disease 0.100 None 0 2
Entrez Id: 100126793
Gene Symbol: GHRLOS
GHRLOS 		ghrelin opposite strand/antisense RNA 1.000 0.077
CUI: C2676079
Disease: METABOLIC SYNDROME, SUSCEPTIBILITY TO
METABOLIC SYNDROME, SUSCEPTIBILITY TO 		phenotype 0.100 None 0 2
Entrez Id: 100126793
Gene Symbol: GHRLOS
GHRLOS 		ghrelin opposite strand/antisense RNA 1.000 0.077
CUI: C4016925
Disease: OBESITY, AGE AT ONSET OF
OBESITY, AGE AT ONSET OF 		phenotype 0.100 None 0 1
Entrez Id: 100128054
Gene Symbol: PLCE1-AS1
PLCE1-AS1 		PLCE1 antisense RNA 1 1.000 0.077
CUI: C1853124
Disease: NEPHROTIC SYNDROME, TYPE 3
NEPHROTIC SYNDROME, TYPE 3 		disease 0.100 None 0 1
Entrez Id: 100129427
Gene Symbol: DDC-AS1
DDC-AS1 		DDC antisense RNA 1 1.000
CUI: C1291564
Disease: Deficiency of aromatic-L-amino-acid decarboxylase
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
CUI: C4310743
Disease: STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET
STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET 		disease 0.100 None 0 1
Entrez Id: 100131825
Gene Symbol: CADM3-AS1
CADM3-AS1 		CADM3 antisense RNA 1 1.000 0.038
CUI: C2676078
Disease: WHITE BLOOD CELL COUNT QUANTITATIVE TRAIT LOCUS 1
WHITE BLOOD CELL COUNT QUANTITATIVE TRAIT LOCUS 1 		phenotype 0.100 None 0 1
Entrez Id: 100131825
Gene Symbol: CADM3-AS1
CADM3-AS1 		CADM3 antisense RNA 1 1.000 0.038
CUI: C4017326
Disease: DUFFY BLOOD GROUP SYSTEM, FY(a-b-) PHENOTYPE
DUFFY BLOOD GROUP SYSTEM, FY(a-b-) PHENOTYPE 		phenotype 0.100 None 0 2
Entrez Id: 100131825
Gene Symbol: CADM3-AS1
CADM3-AS1 		CADM3 antisense RNA 1 1.000 0.038
CUI: C4017327
Disease: DUFFY BLOOD GROUP SYSTEM, FY(bwk) PHENOTYPE
DUFFY BLOOD GROUP SYSTEM, FY(bwk) PHENOTYPE 		phenotype 0.100 None 0 1
Entrez Id: 100289211
Gene Symbol: LINC00624
LINC00624 		long intergenic non-protein coding RNA 624 1.000 0.077
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 1
Entrez Id: 100423031
Gene Symbol: MIR4321
MIR4321 		microRNA 4321 1.000 0.154
CUI: C1849930
Disease: Persistent Mullerian duct syndrome
Persistent Mullerian duct syndrome 		disease 0.100 None 0 1
Entrez Id: 100505475
Gene Symbol: SYNE1-AS1
SYNE1-AS1 		SYNE1 antisense RNA 1 1.000 0.077
CUI: C1853116
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder)
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder) 		disease 0.100 None 0 1
Entrez Id: 100507530
Gene Symbol: MCPH1-AS1
MCPH1-AS1 		MCPH1 antisense RNA 1 1.000 0.115
CUI: C1855081
Disease: MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1 		disease 0.100 None 0 1
Entrez Id: 100526760
Gene Symbol: ABHD14A-ACY1
ABHD14A-ACY1 		ABHD14A-ACY1 readthrough 1.000 0.077 1.8E-10
CUI: C1835922
Disease: Aminoacylase 1 deficiency
Aminoacylase 1 deficiency 		disease 0.100 None 0 7
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: 100874095
Gene Symbol: ADIPOQ-AS1
ADIPOQ-AS1 		ADIPOQ antisense RNA 1 1.000 0.077
CUI: C2675519
Disease: Hypoadiponectinemia
Hypoadiponectinemia 		disease 0.100 None 0 1
Entrez Id: 100996307
Gene Symbol: LIPE-AS1
LIPE-AS1 		LIPE antisense RNA 1 1.000
CUI: C4014869
Disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6
LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6 		disease 0.100 None 0 2
Entrez Id: 101927142
Gene Symbol: NPAS2-AS1
NPAS2-AS1 		NPAS2 antisense RNA 1 1.000 0.038
CUI: C4021107
Disease: Non-obstructive azoospermia
Non-obstructive azoospermia 		disease 0.100 None 0 1
Entrez Id: 101927256
Gene Symbol: CARD11-AS1
CARD11-AS1 		CARD11 antisense RNA 1 1.000
CUI: C4551967
Disease: B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY
B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY 		disease 0.100 None 0 3