Phenotype: Contracture of the proximal interphalangeal joint of the 2nd finger (HP:0009540)
Associated genes and diseases:
gene_symbol: LFNG
disease_id: OMIM:609813
disease_name: SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE
gene_symbol: COL1A1
disease_id: OMIM:130060
disease_name: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1
gene_symbol: COL1A1
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: RPL10
disease_id: OMIM:300998
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35
gene_symbol: NEDD4L
disease_id: OMIM:617201
disease_name: PERIVENTRICULAR NODULAR HETEROTOPIA 7
gene_symbol: BMP1
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: XYLT2
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: SERPINF1
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: COL1A2
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: NBAS
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: MESD
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: MIA3
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: KIF5B
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: PHLDB1
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: CREB3L1
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: P4HB
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: EMILIN1
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: WNT11
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: SLC10A7
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: SPARC
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: SEC16B
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: SEC24D
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: PLOD2
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: P3H1
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: ALPL
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: P4HA1
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: SERPINH1
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: PLOD3
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: IFITM5
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: CCDC134
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: CRTAP
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: PLS3
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: B3GAT3
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: B4GALT7
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: TENT5A
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: GORAB
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: TAPT1
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: SGMS2
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: FKBP10
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: XYLT1
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: COPB2
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: SP7
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: AMBN
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: KDELR2
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: LIFR
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: DSPP
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: TMEM38B
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: WNT1
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: B3GALT6
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: MBTPS2
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: CHST3
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: LRP5
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: PPIB
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS