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: 10019
Gene Symbol: SH2B3
SH2B3 		SH2B adaptor protein 3 0.527 0.692 1.0E-04
CUI: C4551637
Disease: Erythrocytosis familial, 1
Erythrocytosis familial, 1 		disease 0.400 None 0 2
Entrez Id: 1002
Gene Symbol: CDH4
CDH4 		cadherin 4 0.695 0.462 0.74
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		phenotype 0.100 None 0 1
Entrez Id: 10021
Gene Symbol: HCN4
HCN4 		hyperpolarization activated cyclic nucleotide gated potassium channel 4 0.617 0.269 1.00
CUI: C0015967
Disease: Fever
Fever 		phenotype 0.100 None 0 1
Entrez Id: 10021
Gene Symbol: HCN4
HCN4 		hyperpolarization activated cyclic nucleotide gated potassium channel 4 0.617 0.269 1.00
CUI: C0085298
Disease: Sudden Cardiac Death
Sudden Cardiac Death 		phenotype 0.100 None 0 1
Entrez Id: 10021
Gene Symbol: HCN4
HCN4 		hyperpolarization activated cyclic nucleotide gated potassium channel 4 0.617 0.269 1.00
CUI: C4310906
Disease: SICK SINUS SYNDROME 2 WITH CARDIAC NONCOMPACTION AND ASCENDING AORTA DILATION
SICK SINUS SYNDROME 2 WITH CARDIAC NONCOMPACTION AND ASCENDING AORTA DILATION 		disease 0.100 None 0 2
Entrez Id: 100287616
Gene Symbol: LOXL1-AS1
LOXL1-AS1 		LOXL1 antisense RNA 1 0.678 0.500
CUI: C4016255
Disease: EXFOLIATION SYNDROME, SUSCEPTIBILITY TO
EXFOLIATION SYNDROME, SUSCEPTIBILITY TO 		phenotype 0.100 None 0 3
Entrez Id: 100287722
Gene Symbol: AP4B1-AS1
AP4B1-AS1 		AP4B1 antisense RNA 1 0.805 0.231
CUI: C1840136
Disease: DIABETES MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO
DIABETES MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO 		phenotype 0.100 None 0 1
Entrez Id: 100287722
Gene Symbol: AP4B1-AS1
AP4B1-AS1 		AP4B1 antisense RNA 1 0.805 0.231
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		phenotype 0.100 None 0 2
Entrez Id: 100288152
Gene Symbol: SLC9A3-AS1
SLC9A3-AS1 		SLC9A3 antisense RNA 1 0.861 0.192
CUI: C0267663
Disease: Congenital secretory diarrhea, sodium type (disorder)
Congenital secretory diarrhea, sodium type (disorder) 		disease 0.100 None 0 1
Entrez Id: 100289061
Gene Symbol: ADAMTSL4-AS2
ADAMTSL4-AS2 		ADAMTSL4 antisense RNA 2 0.890 0.154
CUI: C1644196
Disease: Ectopia Lentis with Ectopia of Pupil
Ectopia Lentis with Ectopia of Pupil 		disease 0.100 None 0 3
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: 100316868
Gene Symbol: HOTTIP
HOTTIP 		HOXA distal transcript antisense RNA 0.575 0.654
CUI: C1841679
Disease: Hand foot uterus syndrome
Hand foot uterus syndrome 		disease 0.100 None 0 2
Entrez Id: 100422894
Gene Symbol: MIR4260
MIR4260 		microRNA 4260 0.890 0.154
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		disease 0.100 None 0 12
Entrez Id: 100422910
Gene Symbol: MIR2861
MIR2861 		microRNA 2861 0.760 0.269
CUI: C3150680
Disease: BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15
BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15 		phenotype 0.400 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: 10049
Gene Symbol: DNAJB6
DNAJB6 		DnaJ heat shock protein family (Hsp40) member B6 0.659 0.462 0.85
CUI: C0239067
Disease: Difficulty walking up stairs
Difficulty walking up stairs 		phenotype 0.100 None 0 1
Entrez Id: 10049
Gene Symbol: DNAJB6
DNAJB6 		DnaJ heat shock protein family (Hsp40) member B6 0.659 0.462 0.85
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness 		phenotype 0.100 None 0 1
Entrez Id: 10049
Gene Symbol: DNAJB6
DNAJB6 		DnaJ heat shock protein family (Hsp40) member B6 0.659 0.462 0.85
CUI: C1843700
Disease: Increased variability in muscle fiber diameter
Increased variability in muscle fiber diameter 		phenotype 0.100 None 0 1
Entrez Id: 10049
Gene Symbol: DNAJB6
DNAJB6 		DnaJ heat shock protein family (Hsp40) member B6 0.659 0.462 0.85
CUI: C1853932
Disease: Rimmed vacuoles on biopsy
Rimmed vacuoles on biopsy 		phenotype 0.100 None 0 1
Entrez Id: 10049
Gene Symbol: DNAJB6
DNAJB6 		DnaJ heat shock protein family (Hsp40) member B6 0.659 0.462 0.85
CUI: C4021082
Disease: Fatty replacement of skeletal muscle
Fatty replacement of skeletal muscle 		phenotype 0.100 None 0 1
Entrez Id: 10049
Gene Symbol: DNAJB6
DNAJB6 		DnaJ heat shock protein family (Hsp40) member B6 0.659 0.462 0.85
CUI: C4021663
Disease: Abnormality of muscle fibers
Abnormality of muscle fibers 		phenotype 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: 100505881
Gene Symbol: MAGI2-AS3
MAGI2-AS3 		MAGI2 antisense RNA 3 0.700 0.346
CUI: C4539896
Disease: NEPHROTIC SYNDROME, TYPE 15
NEPHROTIC SYNDROME, TYPE 15 		disease 0.100 None 0 1
Entrez Id: 100505994
Gene Symbol: LUCAT1
LUCAT1 		lung cancer associated transcript 1 0.612 0.577
CUI: C2931213
Disease: Usher syndrome, type 2C
Usher syndrome, type 2C 		disease 0.100 None 0 1
Entrez Id: 100506025
Gene Symbol: CRPPA-AS1
CRPPA-AS1 		CRPPA antisense RNA 1 0.890
CUI: C3553813
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8 		disease 0.100 None 0 1