Source: INFERRED

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: 79750
Gene Symbol: ZNF385D
ZNF385D 		zinc finger protein 385D 0.760 0.269 0.65
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		disease 0.100 None 1.000 1 1 2020 2020
Entrez Id: 1384
Gene Symbol: CRAT
CRAT 		carnitine O-acetyltransferase 0.656 0.577 9.5E-12
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		phenotype 0.100 None 1.000 1 2 2020 2020
Entrez Id: 392636
Gene Symbol: AGMO
AGMO 		alkylglycerol monooxygenase 0.780 0.423 6.8E-26
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		disease 0.100 None 1.000 1 1 2020 2020
Entrez Id: 55064
Gene Symbol: SPATA6L
SPATA6L 		spermatogenesis associated 6 like 0.861 0.308 1.0E-16
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		disease 0.100 None 1.000 1 1 2020 2020
Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2 		ATPase Na+/K+ transporting subunit alpha 2 0.597 0.615 1.8E-04
CUI: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis 		disease 0.410 None 1.000 1 2 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: 259266
Gene Symbol: ASPM
ASPM 		abnormal spindle microtubule assembly 0.526 0.769 3.4E-49
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		disease 0.100 None 1.000 1 1 2020 2020
Entrez Id: 23261
Gene Symbol: CAMTA1
CAMTA1 		calmodulin binding transcription activator 1 0.599 0.615 1.00
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		disease 0.100 None 1.000 1 1 2020 2020
Entrez Id: 1384
Gene Symbol: CRAT
CRAT 		carnitine O-acetyltransferase 0.656 0.577 9.5E-12
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.100 None 1.000 1 2 2020 2020
Entrez Id: 781
Gene Symbol: CACNA2D1
CACNA2D1 		calcium voltage-gated channel auxiliary subunit alpha2delta 1 0.641 0.500 1.00
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma 		disease 0.100 None 1.000 1 1 2020 2020
Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2 		ATPase Na+/K+ transporting subunit alpha 2 0.597 0.615 1.8E-04
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		disease 0.400 None 1.000 1 2 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: 6833
Gene Symbol: ABCC8
ABCC8 		ATP binding cassette subfamily C member 8 0.474 0.846 8.0E-24
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		disease 0.100 None 1.000 1 1 2020 2020
Entrez Id: 342035
Gene Symbol: GLDN
GLDN 		gliomedin 0.769 0.346 2.6E-13
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		disease 0.100 None 1.000 1 1 2020 2020
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1 		SET binding protein 1 0.503 0.808 1.00
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: 342035
Gene Symbol: GLDN
GLDN 		gliomedin 0.769 0.346 2.6E-13
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: 6103
Gene Symbol: RPGR
RPGR 		retinitis pigmentosa GTPase regulator 0.536 0.692 1.00
CUI: C0869220
Disease: Adverse effects, not elsewhere classified
Adverse effects, not elsewhere classified 		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: C0151526
Disease: Premature Birth
Premature Birth 		phenotype 0.100 None 1.000 1 1 2020 2020
Entrez Id: 1384
Gene Symbol: CRAT
CRAT 		carnitine O-acetyltransferase 0.656 0.577 9.5E-12
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		phenotype 0.100 None 1.000 1 2 2020 2020
Entrez Id: 1384
Gene Symbol: CRAT
CRAT 		carnitine O-acetyltransferase 0.656 0.577 9.5E-12
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 1.000 1 2 2020 2020
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		1,4-alpha-glucan branching enzyme 1 0.612 0.654 1.1E-12
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: 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: 23548
Gene Symbol: TTC33
TTC33 		tetratricopeptide repeat domain 33 0.931 0.115 5.7E-04
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		disease 0.100 None 1.000 1 1 2020 2020
Entrez Id: 347688
Gene Symbol: TUBB8
TUBB8 		tubulin beta 8 class VIII 1.000 1.8E-02
CUI: C4227845
Disease: Oocyte arrest at metaphase I
Oocyte arrest at metaphase I 		phenotype 0.100 None 1.000 1 1 2020 2020
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		sodium voltage-gated channel alpha subunit 5 0.513 0.654 0.91
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		disease 0.100 None 1.000 1 1 2020 2020