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: 6331
Gene Symbol: SCN5A
SCN5A 		sodium voltage-gated channel alpha subunit 5 0.513 0.654 0.91
CUI: C3151520
Disease: Early severe fetal akinesia sequence
Early severe fetal akinesia sequence 		phenotype 0.100 None 1.000 1 1 2020 2020
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1 		interferon induced with helicase C domain 1 0.471 0.808 7.0E-44
CUI: C0002871
Disease: Anemia
Anemia 		disease 0.100 None 1.000 1 1 2020 2020
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1 		interferon induced with helicase C domain 1 0.471 0.808 7.0E-44
CUI: C0019214
Disease: Hepatosplenomegaly
Hepatosplenomegaly 		phenotype 0.100 None 1.000 1 1 2020 2020
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1 		interferon induced with helicase C domain 1 0.471 0.808 7.0E-44
CUI: C0031256
Disease: Petechiae
Petechiae 		disease 0.100 None 1.000 1 1 2020 2020
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1 		interferon induced with helicase C domain 1 0.471 0.808 7.0E-44
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		phenotype 0.100 None 1.000 1 1 2020 2020
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1 		interferon induced with helicase C domain 1 0.471 0.808 7.0E-44
CUI: C0151526
Disease: Premature Birth
Premature Birth 		phenotype 0.100 None 1.000 1 1 2020 2020
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1 		interferon induced with helicase C domain 1 0.471 0.808 7.0E-44
CUI: C0751740
Disease: Lenticulostriate Vasculopathy
Lenticulostriate Vasculopathy 		disease 0.100 None 1.000 1 1 2020 2020
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1 		interferon induced with helicase C domain 1 0.471 0.808 7.0E-44
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		phenotype 0.100 None 1.000 1 1 2020 2020
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1 		interferon induced with helicase C domain 1 0.471 0.808 7.0E-44
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		disease 0.100 None 1.000 1 1 2020 2020
Entrez Id: 7358
Gene Symbol: UGDH
UGDH 		UDP-glucose 6-dehydrogenase 0.678 0.615 6.8E-04
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease 0.100 None 1.000 1 1 2020 2020
Entrez Id: 157680
Gene Symbol: VPS13B
VPS13B 		vacuolar protein sorting 13 homolog B 0.579 0.769 2.5E-45
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.110 None 1.000 0 1 2020 2020
Entrez Id: 1829
Gene Symbol: DSG2
DSG2 		desmoglein 2 0.601 0.692 2.8E-10
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		disease 0.110 None 1.000 0 1 2020 2020
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		fibrillin 1 0.417 0.846 1.00
CUI: C0035305
Disease: Retinal Detachment
Retinal Detachment 		disease 0.110 None 1.000 0 2 2020 2020
Entrez Id: 283989
Gene Symbol: TSEN54
TSEN54 		tRNA splicing endonuclease subunit 54 0.659 0.500 1.8E-07
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		disease 0.110 None 1.000 0 1 2020 2020
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2 		laminin subunit alpha 2 0.553 0.692 2.4E-47
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.110 None 1.000 0 1 2020 2020
Entrez Id: 5393
Gene Symbol: EXOSC9
EXOSC9 		exosome component 9 0.705 0.423 1.8E-11
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		phenotype 0.110 None 1.000 0 1 2020 2020
Entrez Id: 6857
Gene Symbol: SYT1
SYT1 		synaptotagmin 1 0.412 0.846 0.60
CUI: C0021125
Disease: Impulsive Behavior
Impulsive Behavior 		phenotype 0.110 None 1.000 0 5 2020 2020
Entrez Id: 7480
Gene Symbol: WNT10B
WNT10B 		Wnt family member 10B 0.576 0.654 3.6E-04
CUI: C0152427
Disease: Polydactyly
Polydactyly 		disease 0.110 None 1.000 0 1 2020 2020
Entrez Id: 80224
Gene Symbol: NUBPL
NUBPL 		nucleotide binding protein like 0.670 0.423 1.1E-05
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		group 0.110 None 1.000 0 1 2020 2020
Entrez Id: 84265
Gene Symbol: POLR3GL
POLR3GL 		RNA polymerase III subunit G like 0.839 0.231 2.3E-05
CUI: C4082304
Disease: Oligodontia
Oligodontia 		disease 0.120 None 1.000 0 2 2020 2020
Entrez Id: 102723377
Gene Symbol: CDH23-AS1
CDH23-AS1 		CDH23 antisense RNA 1 0.839 0.192
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		disease 0.100 None 1.000 1 1 2019 2019
Entrez Id: 1145
Gene Symbol: CHRNE
CHRNE 		cholinergic receptor nicotinic epsilon subunit 0.636 0.577 4.7E-09
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		phenotype 0.100 None 1.000 1 1 2019 2019
Entrez Id: 1145
Gene Symbol: CHRNE
CHRNE 		cholinergic receptor nicotinic epsilon subunit 0.636 0.577 4.7E-09
CUI: C2751260
Disease: Macrothrombocytopenia
Macrothrombocytopenia 		disease 0.100 None 1.000 1 1 2019 2019
Entrez Id: 1145
Gene Symbol: CHRNE
CHRNE 		cholinergic receptor nicotinic epsilon subunit 0.636 0.577 4.7E-09
CUI: C4023154
Disease: Impaired ristocetin-induced platelet aggregation
Impaired ristocetin-induced platelet aggregation 		phenotype 0.100 None 1.000 1 1 2019 2019
Entrez Id: 116931
Gene Symbol: MED12L
MED12L 		mediator complex subunit 12L 0.839 0.269 1.00
CUI: C4025282
Disease: Impaired ADP-induced platelet aggregation
Impaired ADP-induced platelet aggregation 		phenotype 0.100 None 1.000 1 1 2019 2019