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: 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: 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: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		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: C0036572
Disease: Seizures
Seizures 		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: C1443228
Disease: Carnitine Acetyltransferase Deficiency
Carnitine Acetyltransferase Deficiency 		phenotype 0.110 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: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		disease 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: C2751582
Disease: Mitochondrial respiratory chain defects
Mitochondrial respiratory chain defects 		phenotype 0.100 None 1.000 1 2 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: 259266
Gene Symbol: ASPM
ASPM 		abnormal spindle microtubule assembly 0.526 0.769 3.4E-49
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: 26040
Gene Symbol: SETBP1
SETBP1 		SET binding protein 1 0.503 0.808 1.00
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: 2632
Gene Symbol: GBE1
GBE1 		1,4-alpha-glucan branching enzyme 1 0.612 0.654 1.1E-12
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		disease 0.100 None 1.000 1 1 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: 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: 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: 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: 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: 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: 477
Gene Symbol: ATP1A2
ATP1A2 		ATPase Na+/K+ transporting subunit alpha 2 0.597 0.615 1.8E-04
CUI: C1837249
Disease: Malformations of Cortical Development, Group II
Malformations of Cortical Development, Group II 		disease 0.100 None 1.000 1 2 2020 2020
Entrez Id: 4920
Gene Symbol: ROR2
ROR2 		receptor tyrosine kinase like orphan receptor 2 0.498 0.731 1.2E-04
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		disease 0.100 None 1.000 1 2 2020 2020
Entrez Id: 4920
Gene Symbol: ROR2
ROR2 		receptor tyrosine kinase like orphan receptor 2 0.498 0.731 1.2E-04
CUI: C3151520
Disease: Early severe fetal akinesia sequence
Early severe fetal akinesia sequence 		phenotype 0.100 None 1.000 1 2 2020 2020
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN 		receptor associated protein of the synapse 0.593 0.731 1.5E-03
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		disease 0.100 None 1.000 1 1 2020 2020
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN 		receptor associated protein of the synapse 0.593 0.731 1.5E-03
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: 6261
Gene Symbol: RYR1
RYR1 		ryanodine receptor 1 0.489 0.808 1.6E-29
CUI: C3151520
Disease: Early severe fetal akinesia sequence
Early severe fetal akinesia sequence 		phenotype 0.100 None 1.000 1 2 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