| S.NO | Uniprot ID | Protein Name | Sequence Length | Hemopexin Repeats region | Disease |
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| 1 | P45452 | Collagenase 3 | 471 | | "DISEASE: Spondyloepimetaphyseal dysplasia Missouri type (SEMD-MO) [MIM:602111]: A bone disease characterized by moderate to severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood.
Epimetaphyseal changes improve with age.
Note=The disease is caused by mutations affecting the gene represented in this entry.
; DISEASE: Metaphyseal anadysplasia 1 (MANDP1) [MIM:602111]: A bone development disorder characterized by skeletal anomalies that resolve spontaneously with age.
Clinical characteristics are evident from the first months of life and include slight shortness of stature and a mild varus deformity of the legs.
Patients attain a normal stature in adolescence and show improvement or complete resolution of varus deformity of the legs and rhizomelic micromelia.
Note=The disease is caused by mutations affecting the gene represented in this entry.
; DISEASE: Metaphyseal dysplasia, Spahr type (MDST) [MIM:250400]: An autosomal recessive, rare disease characterized by moderate short stature, mild genua vara, and radiographic signs of metaphyseal dysplasia, but no biochemical signs of rickets.
Note=The disease is caused by mutations affecting the gene represented in this entry".
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| 2 | Q99542 | Matrix metalloproteinase-19 | 508 | | "DISEASE: Cavitary optic disc anomalies (CODA) [MIM:611543]: An ocular disease characterized by a profound excavation of the optic nerve.
Clinical phenotype is variable and includes congenitally excavated optic nerves as well as other features of optic pit, optic nerve coloboma, and morning glory disk anomaly.
Patients with CODA have a strong predilection for retinal detachment and/or separation of the retinal layers (retinoschisis) that lead to profound central vision loss.
Note=The disease is caused by mutations affecting the gene represented in this entry".
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| 3 | P08254 | Stromelysin-1 | 477 | | "DISEASE: Coronary heart disease 6 (CHDS6) [MIM:614466]: A multifactorial disease characterized by an imbalance between myocardial functional requirements and the capacity of the coronary vessels to supply sufficient blood flow.
Decreased capacity of the coronary vessels is often associated with thickening and loss of elasticity of the coronary arteries.
Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
A polymorphism in the MMP3 promoter region is associated with the risk of coronary heart disease and myocardial infarction, due to lower MMP3 proteolytic activity and higher extracellular matrix deposition in atherosclerotic lesions".
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| 4 | O60882 | Matrix metalloproteinase-20 | 483 | | "DISEASE: Amelogenesis imperfecta, hypomaturation type, 2A2 (AI2A2) [MIM:612529]: A defect of enamel formation.
The disorder involves both primary and secondary dentitions.
The teeth have a shiny agar jelly appearance and the enamel is softer than normal.
Brown pigment is present in middle layers of enamel.
Note=The disease is caused by mutations affecting the gene represented in this entry".
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| 5 | P50281 | Matrix metalloproteinase-14 | 582 | | "DISEASE: Winchester syndrome (WNCHRS) [MIM:277950]: A disease characterized by severe osteolysis in the hands and feet, generalized osteoporosis, bone thinning, and absence of subcutaneous nodules.
Various additional features include coarse face, corneal opacities, gum hypertrophy, and EKG changes.
Note=The disease is caused by mutations affecting the gene represented in this entry".
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| 6 | Q8N119 | Matrix metalloproteinase-21 | 569 | | "DISEASE: Heterotaxy, visceral, 7, autosomal (HTX7) [MIM:616749]: A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs.
Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach.
The organs are oriented randomly with respect to the left-right axis and with respect to one another.
It can been associated with a variety of congenital defects including cardiac malformations.
HTX7 inheritance is autosomal recessive.
Note=The disease is caused by mutations affecting the gene represented in this entry".
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| 7 | P08253 | 72 kDa type IV collagenase | 660 | | "DISEASE: Multicentric osteolysis, nodulosis, and arthropathy (MONA) [MIM:259600]: An autosomal recessive syndrome characterized by severe multicentric osteolysis with predominant involvement of the hands and feet.
Additional features include coarse face, corneal opacities, patches of thickened, hyperpigmented skin, hypertrichosis and gum hypertrophy.
Note=The disease is caused by mutations affecting the gene represented in this entry".
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| 8 | P14780 | Matrix metalloproteinase-9 | 707 | | DISEASE: Intervertebral disc disease (IDD) [MIM:603932]: A common musculo-skeletal disorder caused by degeneration of intervertebral disks of the lumbar spine.
It results in low-back pain and unilateral leg pain.
Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
; DISEASE: Metaphyseal anadysplasia 2 (MANDP2) [MIM:613073]: A bone development disorder characterized by skeletal anomalies that resolve spontaneously with age.
Clinical characteristics are evident from the first months of life and include slight shortness of stature and a mild varus deformity of the legs.
Patients attain a normal stature in adolescence and show improvement or complete resolution of varus deformity of the legs and rhizomelic micromelia.
Note=The disease is caused by mutations affecting the gene represented in this entry.
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