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: 101928583
Gene Symbol: SLC7A14-AS1
SLC7A14-AS1 		SLC7A14 antisense RNA 1 1.000
CUI: C3810380
Disease: RETINITIS PIGMENTOSA 68
RETINITIS PIGMENTOSA 68 		disease 0.100 None 0 2
Entrez Id: 101930010
Gene Symbol: DST-AS1
DST-AS1 		DST antisense RNA 1 1.000
CUI: C3539003
Disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI 		disease 0.100 None 0 1
Entrez Id: 101930114
Gene Symbol: HSD11B1-AS1
HSD11B1-AS1 		HSD11B1 antisense RNA 1 1.000
CUI: C3553382
Disease: CORTISONE REDUCTASE DEFICIENCY 2
CORTISONE REDUCTASE DEFICIENCY 2 		disease 0.100 None 0 1
Entrez Id: 105373885
Gene Symbol: ASIC4-AS1
ASIC4-AS1 		ASIC4 antisense RNA 1 0.931
CUI: C3809738
Disease: ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME
ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME 		disease 0.100 None 0 5
Entrez Id: 105373885
Gene Symbol: ASIC4-AS1
ASIC4-AS1 		ASIC4 antisense RNA 1 0.931
CUI: C4014814
Disease: MYOPATHY, CENTRONUCLEAR, 5
MYOPATHY, CENTRONUCLEAR, 5 		disease 0.100 None 0 2
Entrez Id: 107985781
Gene Symbol: FSIP2-AS1
FSIP2-AS1 		FSIP2 antisense RNA 1 1.000
CUI: C4748403
Disease: SPERMATOGENIC FAILURE 34
SPERMATOGENIC FAILURE 34 		disease 0.100 None 0 3
Entrez Id: 11180
Gene Symbol: WDR6
WDR6 		WD repeat domain 6 2.1E-09
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 1
Entrez Id: 114625
Gene Symbol: ERMAP
ERMAP 		erythroblast membrane associated protein (Scianna blood group) 4.9E-10
CUI: C1862204
Disease: RADIN BLOOD GROUP ANTIGEN
RADIN BLOOD GROUP ANTIGEN 		phenotype 0.100 None 0 1
Entrez Id: 114625
Gene Symbol: ERMAP
ERMAP 		erythroblast membrane associated protein (Scianna blood group) 4.9E-10
CUI: C4017180
Disease: SCIANNA BLOOD GROUP SYSTEM, SC:-1,-2 PHENOTYPE
SCIANNA BLOOD GROUP SYSTEM, SC:-1,-2 PHENOTYPE 		phenotype 0.100 None 0 1
Entrez Id: 130162
Gene Symbol: CLHC1
CLHC1 		clathrin heavy chain linker domain containing 1 5.6E-21
CUI: C0231712
Disease: Waddling gait
Waddling gait 		phenotype 0.100 None 0 1
Entrez Id: 22917
Gene Symbol: ZP1
ZP1 		zona pellucida glycoprotein 1 0.890 1.9E-21
CUI: C4014291
Disease: OOCYTE MATURATION DEFECT 1
OOCYTE MATURATION DEFECT 1 		disease 0.600 None 1.000 0 1 2014 2014
Entrez Id: 23359
Gene Symbol: FAM189A1
FAM189A1 		family with sequence similarity 189 member A1 1.000 3.9E-02
CUI: C4310653
Disease: LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME
LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME 		disease 0.100 None 0 2
Entrez Id: 25763
Gene Symbol: H2AP
H2AP 		H2A.P histone
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 1
Entrez Id: 26233
Gene Symbol: FBXL6
FBXL6 		F-box and leucine rich repeat protein 6 1.000 4.2E-09
CUI: C3553538
Disease: BROWN-VIALETTO-VAN LAERE SYNDROME 2
BROWN-VIALETTO-VAN LAERE SYNDROME 2 		disease 0.100 None 0 17
Entrez Id: 342618
Gene Symbol: SLFN14
SLFN14 		schlafen family member 14 0.931 3.5E-09
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		phenotype 0.120 None 1.000 0 2 2015 2018
Entrez Id: 342618
Gene Symbol: SLFN14
SLFN14 		schlafen family member 14 0.931 3.5E-09
CUI: C1458140
Disease: Bleeding tendency
Bleeding tendency 		phenotype 0.100 None 0 2
Entrez Id: 342618
Gene Symbol: SLFN14
SLFN14 		schlafen family member 14 0.931 3.5E-09
CUI: C4310797
Disease: BLEEDING DISORDER, PLATELET-TYPE, 20
BLEEDING DISORDER, PLATELET-TYPE, 20 		disease 0.700 None 1.000 0 4 2015 2016
Entrez Id: 347365
Gene Symbol: ITIH6
ITIH6 		inter-alpha-trypsin inhibitor heavy chain family member 6 1.5E-24
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 1
Entrez Id: 347688
Gene Symbol: TUBB8
TUBB8 		tubulin beta 8 class VIII 1.000 1.8E-02
CUI: C4225210
Disease: OOCYTE MATURATION DEFECT 2
OOCYTE MATURATION DEFECT 2 		disease 0.600 None 1.000 0 7 2016 2016
Entrez Id: 349408
Gene Symbol: TLR8-AS1
TLR8-AS1 		TLR8 antisense RNA 1 1.000
CUI: C3887876
Disease: OSTEOARTHRITIS SUSCEPTIBILITY 1
OSTEOARTHRITIS SUSCEPTIBILITY 1 		disease 0.100 None 0 2
Entrez Id: 3750
Gene Symbol: KCND1
KCND1 		potassium voltage-gated channel subfamily D member 1 0.26
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 2
Entrez Id: 388531
Gene Symbol: RGS9BP
RGS9BP 		regulator of G protein signaling 9 binding protein 0.931 2.3E-03
CUI: C1842073
Disease: Prolonged Electroretinal Response Suppression
Prolonged Electroretinal Response Suppression 		phenotype 0.700 limited 1.000 0 1 2004 2004
Entrez Id: 399671
Gene Symbol: HEATR4
HEATR4 		HEAT repeat containing 4 1.4E-29
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype 0.100 None 0 1
Entrez Id: 404744
Gene Symbol: NPSR1-AS1
NPSR1-AS1 		NPSR1 antisense RNA 1 1.000
CUI: C1837811
Disease: ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 2
ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 2 		disease 0.100 None 0 1
Entrez Id: 440689
Gene Symbol: H2BC18
H2BC18 		H2B clustered histone 18 4.6E-03
CUI: C4016211
Disease: IgG RECEPTOR I, PHAGOCYTIC, FAMILIAL DEFICIENCY OF
IgG RECEPTOR I, PHAGOCYTIC, FAMILIAL DEFICIENCY OF 		phenotype 0.100 None 0 1