Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 889
Gene Symbol: KRIT1
KRIT1 		0.070 GeneticVariation disease BEFREE Familial cases are associated with mutations in CCM1[K-Rev interaction trapped 1 (KRIT1)], CCM2 (MGC4607) and CCM3 (PDCD10) genes. 21029238 2011
Entrez Id: 11235
Gene Symbol: PDCD10
PDCD10 		0.050 GeneticVariation disease BEFREE Familial cases are associated with mutations in CCM1[K-Rev interaction trapped 1 (KRIT1)], CCM2 (MGC4607) and CCM3 (PDCD10) genes. 21029238 2011
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11 		0.010 Biomarker disease BEFREE Familial 16q24.3 microdeletion involving ANKRD11 causes a KBG-like syndrome. 22307766 2012
Entrez Id: 213
Gene Symbol: ALB
ALB 		0.020 Biomarker disease BEFREE Familial hypercatabolic hypoproteinemia. A disorder of endogenous catabolism of albumin and immunoglobulin. 2254461 1990
Entrez Id: 4221
Gene Symbol: MEN1
MEN1 		0.100 Biomarker disease BEFREE Familial MEN1 is defined by one first-degree relative having at least one of these 3 main tumors, and is associated with germline mutations in the MEN1 gene on 11q13 in a large proportion of cases. 22549346 2012
Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2 		0.030 GeneticVariation disease BEFREE Familial forms are dominantly inherited, and are attributable to mutations in genes encoding proteins involved in ion transportation, including ATP1A2, which codes for the α-2 isoform of the sodium-potassium adenosine triphosphatase, a P-type cation transport adenosine triphosphatase, and responsible for the so-called familial hemiplegic migraine type 2. 22759692 2012
Entrez Id: 6261
Gene Symbol: RYR1
RYR1 		0.020 GeneticVariation disease BEFREE Familial RYR1 mutations were confirmed in relatives with similar or no symptoms. 23628358 2013
Entrez Id: 203228
Gene Symbol: C9orf72
C9orf72 		0.100 Biomarker disease BEFREE Familial frontotemporal dementia associated with C9orf72 repeat expansion and dysplastic gangliocytoma. 24080172 2014
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.040 GeneticVariation disease BEFREE Familial history was not remarkable except one patient with a SCN1A mutation (G1647S) whose mother had a similar episode of AESD in her childhood. 26311622 2015
Entrez Id: 1641
Gene Symbol: DCX
DCX 		0.020 GeneticVariation disease BEFREE Familial pachygyria in both genders related to a DCX mutation. 26743950 2016
Entrez Id: 6622
Gene Symbol: SNCA
SNCA 		0.100 Biomarker disease BEFREE Familial parkinsonism associated with SNCA is rare, but α-synuclein aggregation is a core feature of sporadic parkinsonism, including Parkinson's disease, dementia with Lewy bodies, and multiple system atrophy. 28324300 2017
Entrez Id: 1050
Gene Symbol: CEBPA
CEBPA 		0.040 GeneticVariation disease BEFREE Familial CEBPA-mutated acute myeloid leukemia. 28637622 2017
Entrez Id: 10846
Gene Symbol: PDE10A
PDE10A 		0.010 GeneticVariation disease BEFREE Familial choreoathetosis due to novel heterozygous mutation in PDE10A. 29130591 2018
Entrez Id: 57306
Gene Symbol: CUP2Q35
CUP2Q35 		0.010 Biomarker disease BEFREE Familial dermatoglyphic analysis in syndactyly type I. 6273467 1981
Entrez Id: 2147
Gene Symbol: F2
F2 		0.040 GeneticVariation disease BEFREE Familial haemostatic defect associated with reduced prothrombin consumption. 7378303 1980
Entrez Id: 5340
Gene Symbol: PLG
PLG 		0.060 AlteredExpression disease BEFREE Familial idiopathic osteonecrosis mediated by familial hypofibrinolysis with high levels of plasminogen activator inhibitor. 8191398 1994
Entrez Id: 1674
Gene Symbol: DES
DES 		0.060 Biomarker disease BEFREE Familial desminopathy: myopathy with accumulation of desmin-type intermediate filaments. 8509778 1993
Entrez Id: 1674
Gene Symbol: DES
DES 		0.060 Biomarker disease BEFREE Familial desmin myopathies and cytoplasmic body myopathies. 8922062 1996
Entrez Id: 2332
Gene Symbol: FMR1
FMR1 		0.050 Biomarker disease BEFREE Familial transmission of the FMR1 CGG repeat. 8940270 1996
Entrez Id: 5132
Gene Symbol: PDC
PDC 		0.010 Biomarker disease BEFREE PDC can be idiopathic (familial or sporadic) or symptomatic due to a variety of causes. 10323309 1999
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2 		0.100 Biomarker disease BEFREE PKC is more common in men and can be idiopathic (commonly familial) or due to a variety of causes. 10323309 1999
Entrez Id: 5579
Gene Symbol: PRKCB
PRKCB 		0.010 Biomarker disease BEFREE PKC is more common in men and can be idiopathic (commonly familial) or due to a variety of causes. 10323309 1999
Entrez Id: 5578
Gene Symbol: PRKCA
PRKCA 		0.010 Biomarker disease BEFREE PKC is more common in men and can be idiopathic (commonly familial) or due to a variety of causes. 10323309 1999
Entrez Id: 2477
Gene Symbol: FRAXA
FRAXA 		0.020 Biomarker disease BEFREE FRAXA premutation was found in one woman with familial POF. 10331614 1999
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.100 GeneticVariation disease BEFREE BRCA1 mutations in familial ovarian cancer. 10444347 1999