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: 10000
Gene Symbol: AKT3
AKT3
AKT serine/threonine kinase 3 0.512 0.808 1.00
CUI: C0206733
Disease: Strawberry nevus of skin
Strawberry nevus of skin
disease 0.100 None 0 1
Entrez Id: 10000
Gene Symbol: AKT3
AKT3
AKT serine/threonine kinase 3 0.512 0.808 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 1
Entrez Id: 10000
Gene Symbol: AKT3
AKT3
AKT serine/threonine kinase 3 0.512 0.808 1.00
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder)
phenotype 0.100 None 0 1
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3
nuclear receptor subfamily 2 group E member 3 0.603 0.500
CUI: C0042798
Disease: Low Vision
Low Vision
disease 0.100 None 0 1
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3
nuclear receptor subfamily 2 group E member 3 0.603 0.500
CUI: C0234629
Disease: Abnormal color vision
Abnormal color vision
phenotype 0.100 None 0 1
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3
nuclear receptor subfamily 2 group E member 3 0.603 0.500
CUI: C0271385
Disease: Horizontal Nystagmus
Horizontal Nystagmus
disease 0.100 None 0 1
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3
nuclear receptor subfamily 2 group E member 3 0.603 0.500
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
disease 0.100 None 0 1
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3
nuclear receptor subfamily 2 group E member 3 0.603 0.500
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies
disease 0.100 None 0 2
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3
nuclear receptor subfamily 2 group E member 3 0.603 0.500
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye
phenotype 0.100 None 0 1
Entrez Id: 100048912
Gene Symbol: CDKN2B-AS1
CDKN2B-AS1
CDKN2B antisense RNA 1 0.491 0.769
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
group 0.100 None 0 1
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
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: 100128560
Gene Symbol: MYHAS
MYHAS
myosin heavy chain gene cluster antisense RNA 0.890 0.269
CUI: C0026848
Disease: Myopathy
Myopathy
group 0.100 None 0 1
Entrez Id: 100128560
Gene Symbol: MYHAS
MYHAS
myosin heavy chain gene cluster antisense RNA 0.890 0.269
CUI: C0265226
Disease: Hecht syndrome (disorder)
Hecht syndrome (disorder)
disease 0.100 None 0 1
Entrez Id: 100128560
Gene Symbol: MYHAS
MYHAS
myosin heavy chain gene cluster antisense RNA 0.890 0.269
CUI: C1837245
Disease: Carney Complex Variant
Carney Complex Variant
disease 0.100 None 0 1
Entrez Id: 100128927
Gene Symbol: ZBTB42
ZBTB42
zinc finger and BTB domain containing 42 0.931 0.115 0.34
Caused by mutation in the zinc finger- and BTB domain-containing protein-42 (ZBTB42, 613915.0001)
phenotype 0.100 None 0 1
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: 100129480
Gene Symbol: MKRN2OS
MKRN2OS
MKRN2 opposite strand 0.931 0.077 3.8E-05
CUI: C1848526
Disease: Pontocerebellar Hypoplasia Type 2A
Pontocerebellar Hypoplasia Type 2A
disease 0.100 None 0 1
Entrez Id: 100129480
Gene Symbol: MKRN2OS
MKRN2OS
MKRN2 opposite strand 0.931 0.077 3.8E-05
CUI: C2676466
Disease: Pontocerebellar Hypoplasia Type 2B
Pontocerebellar Hypoplasia Type 2B
disease 0.100 None 0 5
Entrez Id: 100129696
Gene Symbol: INHCAP
INHCAP
inhibitor of carbonic anhydrase pseudogene 0.890 0.231
CUI: C0521802
Disease: Congenital atransferrinemia
Congenital atransferrinemia
disease 0.100 None 0 1
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: 100130275
Gene Symbol: TFAP2A-AS1
TFAP2A-AS1
TFAP2A antisense RNA 1 0.890 0.115
CUI: C0376524
Disease: Branchio-Oculo-Facial Syndrome
Branchio-Oculo-Facial Syndrome
disease 0.100 None 0 1
Entrez Id: 100130311
Gene Symbol: C17orf107
C17orf107
chromosome 17 open reading frame 107 0.821 0.115 6.9E-02
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
disease 0.100 None 0 17