Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.100 Biomarker disease HPO
Entrez Id: 2705
Gene Symbol: GJB1
GJB1 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 9897
Gene Symbol: WASHC5
WASHC5 		0.100 Biomarker disease HPO
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4 		0.100 Biomarker disease HPO
Entrez Id: 7273
Gene Symbol: TTN
TTN 		0.100 Biomarker disease HPO
Entrez Id: 3094
Gene Symbol: HINT1
HINT1 		0.100 Biomarker disease HPO
Entrez Id: 1674
Gene Symbol: DES
DES 		0.100 Biomarker disease HPO
Entrez Id: 8291
Gene Symbol: DYSF
DYSF 		0.100 CausalMutation disease CLINVAR
Entrez Id: 23095
Gene Symbol: KIF1B
KIF1B 		0.010 Biomarker disease BEFREE While nerve biopsy has lost its diagnostic importance in certain forms of the disease, such as CMT 1A, CMT 1B, and X-linked CMT (CMT X), it remains important for better characterizing the lesions of CMT 2 and forms of genetic peroneal atrophy in which DNA study is unrevealing. 12901697 2003
Entrez Id: 9587
Gene Symbol: MAD2L1BP
MAD2L1BP 		0.010 Biomarker disease BEFREE While nerve biopsy has lost its diagnostic importance in certain forms of the disease, such as CMT 1A, CMT 1B, and X-linked CMT (CMT X), it remains important for better characterizing the lesions of CMT 2 and forms of genetic peroneal atrophy in which DNA study is unrevealing. 12901697 2003