Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C3151520
Disease: Early severe fetal akinesia sequence
Early severe fetal akinesia sequence 		0.100 CausalMutation CLINVAR The genomic and clinical landscape of fetal akinesia. 31680123

2020
Entrez Id: 342035
Gene Symbol: GLDN
GLDN
CUI: C3151520
Disease: Early severe fetal akinesia sequence
Early severe fetal akinesia sequence 		0.100 GeneticVariation CLINVAR The genomic and clinical landscape of fetal akinesia. 31680123

2020
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C3151520
Disease: Early severe fetal akinesia sequence
Early severe fetal akinesia sequence 		0.100 GeneticVariation CLINVAR The genomic and clinical landscape of fetal akinesia. 31680123

2020
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0011981
Disease: Diaphragmatic Eventration
Diaphragmatic Eventration 		0.100 CausalMutation CLINVAR Novel features of PIK3CA-Related Overgrowth Spectrum: Lesson from an aborted fetus presenting a de novo constitutional PIK3CA mutation. 31568861

2019
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 CausalMutation CLINVAR Novel features of PIK3CA-Related Overgrowth Spectrum: Lesson from an aborted fetus presenting a de novo constitutional PIK3CA mutation. 31568861

2019
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0266166
Disease: Congenital duplication of intestine
Congenital duplication of intestine 		0.100 CausalMutation CLINVAR Novel features of PIK3CA-Related Overgrowth Spectrum: Lesson from an aborted fetus presenting a de novo constitutional PIK3CA mutation. 31568861

2019
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C3805727
Disease: MEGALENCEPHALY, AUTOSOMAL DOMINANT
MEGALENCEPHALY, AUTOSOMAL DOMINANT 		0.100 CausalMutation CLINVAR Novel features of PIK3CA-Related Overgrowth Spectrum: Lesson from an aborted fetus presenting a de novo constitutional PIK3CA mutation. 31568861

2019
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C4024297
Disease: Abnormality of the hairline
Abnormality of the hairline 		0.100 CausalMutation CLINVAR Novel features of PIK3CA-Related Overgrowth Spectrum: Lesson from an aborted fetus presenting a de novo constitutional PIK3CA mutation. 31568861

2019
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.630 GeneticVariation CLINVAR Targeted panel sequencing in pediatric primary cardiomyopathy supports a critical role of TNNI3. 31568572

2019
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.500 CausalMutation CLINVAR Targeted panel sequencing in pediatric primary cardiomyopathy supports a critical role of TNNI3. 31568572

2019
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.500 CausalMutation CLINVAR Targeted panel sequencing in pediatric primary cardiomyopathy supports a critical role of TNNI3. 31568572

2019
Entrez Id: 1824
Gene Symbol: DSC2
DSC2
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.200 GeneticVariation CLINVAR Targeted panel sequencing in pediatric primary cardiomyopathy supports a critical role of TNNI3. 31568572

2019
Entrez Id: 1384
Gene Symbol: CRAT
CRAT
CUI: C1443228
Disease: Carnitine Acetyltransferase Deficiency
Carnitine Acetyltransferase Deficiency 		0.110 GeneticVariation CLINVAR CRAT missense variants cause abnormal carnitine acetyltransferase function in an early-onset case of Leigh syndrome. 31448845

2020
Entrez Id: 1384
Gene Symbol: CRAT
CRAT
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR CRAT missense variants cause abnormal carnitine acetyltransferase function in an early-onset case of Leigh syndrome. 31448845

2020
Entrez Id: 1384
Gene Symbol: CRAT
CRAT
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		0.100 GeneticVariation CLINVAR CRAT missense variants cause abnormal carnitine acetyltransferase function in an early-onset case of Leigh syndrome. 31448845

2020
Entrez Id: 1384
Gene Symbol: CRAT
CRAT
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		0.100 GeneticVariation CLINVAR CRAT missense variants cause abnormal carnitine acetyltransferase function in an early-onset case of Leigh syndrome. 31448845

2020
Entrez Id: 1384
Gene Symbol: CRAT
CRAT
CUI: C0036572
Disease: Seizures
Seizures 		0.100 GeneticVariation CLINVAR CRAT missense variants cause abnormal carnitine acetyltransferase function in an early-onset case of Leigh syndrome. 31448845

2020
Entrez Id: 1384
Gene Symbol: CRAT
CRAT
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.100 GeneticVariation CLINVAR CRAT missense variants cause abnormal carnitine acetyltransferase function in an early-onset case of Leigh syndrome. 31448845

2020
Entrez Id: 1384
Gene Symbol: CRAT
CRAT
CUI: C2751582
Disease: Mitochondrial respiratory chain defects
Mitochondrial respiratory chain defects 		0.100 GeneticVariation CLINVAR CRAT missense variants cause abnormal carnitine acetyltransferase function in an early-onset case of Leigh syndrome. 31448845

2020
Entrez Id: 5073
Gene Symbol: PARN
PARN
CUI: C4225356
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6 		0.700 CausalMutation CLINVAR From incomplete penetrance with normal telomere length to severe disease and telomere shortening in a family with monoallelic and biallelic PARN pathogenic variants. 31448843

2019
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation CLINVAR Characterization of the c.793-1G > A splicing variant in CHEK2 gene as pathogenic: a case report. 31349801

2019
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.800 CausalMutation CLINVAR Biallelic germline BRCA1 mutations in a patient with early onset breast cancer, mild Fanconi anemia-like phenotype, and no chromosome fragility. 31347298

2019
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.800 CausalMutation CLINVAR Age-adjusted association of homologous recombination genes with ovarian cancer using clinical exomes as controls. 31341520

2019
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.630 GeneticVariation CLINVAR RIKADA Study Reveals Risk Factors in Pediatric Primary Cardiomyopathy. 31333075

2019
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.500 CausalMutation CLINVAR RIKADA Study Reveals Risk Factors in Pediatric Primary Cardiomyopathy. 31333075

2019