Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1 		0.100 CausalMutation disease CLINVAR
Entrez Id: 2201
Gene Symbol: FBN2
FBN2 		0.200 Biomarker disease MGD Extracellular microfibrils control osteoblast-supported osteoclastogenesis by restricting TGF{beta} stimulation of RANKL production. 20729550 2010
Entrez Id: 2201
Gene Symbol: FBN2
FBN2 		0.200 Biomarker disease MGD ENU mutagenesis reveals a novel phenotype of reduced limb strength in mice lacking fibrillin 2. 20161761 2010
Entrez Id: 2201
Gene Symbol: FBN2
FBN2 		0.200 Biomarker disease MGD Regulation of limb patterning by extracellular microfibrils. 11470817 2001
Entrez Id: 9427
Gene Symbol: ECEL1
ECEL1 		0.200 Biomarker disease MGD
Entrez Id: 259232
Gene Symbol: NALCN
NALCN 		0.300 GermlineCausalMutation disease ORPHANET De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay. 25683120 2015
Entrez Id: 4604
Gene Symbol: MYBPC1
MYBPC1 		0.320 Biomarker disease BEFREE Mutations in sarcomeric protein genes, including troponin I2 (TNNI2), troponin T3 (TNNT3), tropomyosin 2 (TPM2), embryonic myosin heavy chain 3 (MYH3), and myosin binding protein C1 (MYBPC1), have been identified in distal arthrogryposis type 1 (DA1, MIM 108120), type 2B (DA2B, MIM 601680) and type 2A (DA2A)/Freeman-Sheldon syndrome (FSS, MIM 193700). 23850728 2013
Entrez Id: 4604
Gene Symbol: MYBPC1
MYBPC1 		0.320 GeneticVariation disease BEFREE Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1. 20045868 2010
Entrez Id: 4604
Gene Symbol: MYBPC1
MYBPC1 		0.320 GermlineCausalMutation disease ORPHANET Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1. 20045868 2010
Entrez Id: 4621
Gene Symbol: MYH3
MYH3 		0.340 Biomarker disease BEFREE Mutations in sarcomeric protein genes, including troponin I2 (TNNI2), troponin T3 (TNNT3), tropomyosin 2 (TPM2), embryonic myosin heavy chain 3 (MYH3), and myosin binding protein C1 (MYBPC1), have been identified in distal arthrogryposis type 1 (DA1, MIM 108120), type 2B (DA2B, MIM 601680) and type 2A (DA2A)/Freeman-Sheldon syndrome (FSS, MIM 193700). 23850728 2013
Entrez Id: 4621
Gene Symbol: MYH3
MYH3 		0.340 GermlineCausalMutation disease ORPHANET Spectrum of mutations that cause distal arthrogryposis types 1 and 2B. 23401156 2013
Entrez Id: 4621
Gene Symbol: MYH3
MYH3 		0.340 GeneticVariation disease BEFREE Identification of an MYH3 mutation in this family with distal arthrogryposis type 1 broadens the phenotype associated with MYH3 mutations to include distal arthrogryposis types 1, 2A (Freeman-Sheldon syndrome), and 2B (Sheldon-Hall syndrome). 21531865 2011
Entrez Id: 4621
Gene Symbol: MYH3
MYH3 		0.340 GeneticVariation disease BEFREE The TNNT3 R63H recurrent mutation identified in two unrelated individuals may be associated with either DA1 or DA2B. 19142688 2009
Entrez Id: 4621
Gene Symbol: MYH3
MYH3 		0.340 Biomarker disease BEFREE We recently have characterized a new disorder (DA2B) with a phenotype intermediate between DA1 and FSS. 9012416 1997
Entrez Id: 7140
Gene Symbol: TNNT3
TNNT3 		0.520 Biomarker disease BEFREE Mutations in sarcomeric protein genes, including troponin I2 (TNNI2), troponin T3 (TNNT3), tropomyosin 2 (TPM2), embryonic myosin heavy chain 3 (MYH3), and myosin binding protein C1 (MYBPC1), have been identified in distal arthrogryposis type 1 (DA1, MIM 108120), type 2B (DA2B, MIM 601680) and type 2A (DA2A)/Freeman-Sheldon syndrome (FSS, MIM 193700). 23850728 2013
Entrez Id: 7140
Gene Symbol: TNNT3
TNNT3 		0.520 GermlineCausalMutation disease ORPHANET Spectrum of mutations that cause distal arthrogryposis types 1 and 2B. 23401156 2013
Entrez Id: 7140
Gene Symbol: TNNT3
TNNT3 		0.520 GeneticVariation disease BEFREE The TNNT3 R63H recurrent mutation identified in two unrelated individuals may be associated with either DA1 or DA2B. 19142688 2009
Entrez Id: 7140
Gene Symbol: TNNT3
TNNT3 		0.520 Biomarker disease GENOMICS_ENGLAND In one individual with DA1, we identified a de novo TNNT3 mutation (R63H) previously identified in an individual with DA2B. 19142688 2009
Entrez Id: 7136
Gene Symbol: TNNI2
TNNI2 		0.540 GeneticVariation disease BEFREE A novel missense mutation of TNNI2 in a Chinese family cause distal arthrogryposis type 1. 26374086 2016
Entrez Id: 7136
Gene Symbol: TNNI2
TNNI2 		0.540 Biomarker disease MGD A gain-of-function mutation in Tnni2 impeded bone development through increasing Hif3a expression in DA2B mice. 25340332 2014
Entrez Id: 7136
Gene Symbol: TNNI2
TNNI2 		0.540 GermlineCausalMutation disease ORPHANET Spectrum of mutations that cause distal arthrogryposis types 1 and 2B. 23401156 2013
Entrez Id: 7136
Gene Symbol: TNNI2
TNNI2 		0.540 Biomarker disease BEFREE Mutations in sarcomeric protein genes, including troponin I2 (TNNI2), troponin T3 (TNNT3), tropomyosin 2 (TPM2), embryonic myosin heavy chain 3 (MYH3), and myosin binding protein C1 (MYBPC1), have been identified in distal arthrogryposis type 1 (DA1, MIM 108120), type 2B (DA2B, MIM 601680) and type 2A (DA2A)/Freeman-Sheldon syndrome (FSS, MIM 193700). 23850728 2013
Entrez Id: 7136
Gene Symbol: TNNI2
TNNI2 		0.540 GeneticVariation disease BEFREE The TNNT3 R63H recurrent mutation identified in two unrelated individuals may be associated with either DA1 or DA2B. 19142688 2009
Entrez Id: 7136
Gene Symbol: TNNI2
TNNI2 		0.540 Biomarker disease BEFREE We recently have characterized a new disorder (DA2B) with a phenotype intermediate between DA1 and FSS. 9012416 1997
Entrez Id: 7169
Gene Symbol: TPM2
TPM2 		0.730 GeneticVariation disease UNIPROT Novel mutations in TPM2 and PIEZO2 are responsible for distal arthrogryposis (DA) 2B and mild DA in two Chinese families. 30285720 2018