Autosomal recessive osteopetrosis pathways (Homo sapiens)

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1Secretory lysosomeOsteoclastNucleusRegulates transcriptionof key osteoclast genesOsteoblast-rich AROSNX10RAB7ACLCN7TNFSF11Cl-TNFRSF11AIKBKBGeneProductTRAF6PLEKHM1NFKB1H+OSTM1TCIRG1H+H+Cl-Cl-Cl-H+Osteoblast-poor AROOMIM:174810Familial Expansile OsteolysisOMIM:259710Osteopetrosis, Autosomal Recessive 2OMIM:615085Osteopetrosis, Autosomal Recessive 8OMIM:259720Osteopetrosis, Autosomal Recessive 5OMIM:611490Osteopetrosis, Autosomal Recessive 4OMIM:612301Osteopetrosis, Autosomal Recessive 7OMIM:224300DysosteosclerosisOMIM:259710Osteopetrosis, Autosomal Recessive 2OMIM:259700Osteopetrosis, Autosomal Recessive 1OMIM:611497Osteopetrosis, Autosomal Recessive 6OMIM:166600Osteopetrosis, Autosomal Dominant 2


Description

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Quality Tags

Ontology Terms

 

Bibliography

  1. Sobacchi C, Schulz A, Coxon FP, Villa A, Helfrich MH; ''Osteopetrosis: genetics, treatment and new insights into osteoclast function.''; Nat Rev Endocrinol, 2013 PubMed Europe PMC Scholia

History

View all...
CompareRevisionActionTimeUserComment
128856view22:35, 23 February 2024EweitzOntology Term : 'familial expansile osteolysis' added !
128854view13:23, 23 February 2024EweitzOntology Term : 'osteoclast' added !
128842view02:49, 23 February 2024EweitzSoften disease color, standardize case
117658view11:52, 22 May 2021EweitzModified title
111730view17:19, 3 September 2020KhanspersOntology Term : 'signaling pathway' added !
111729view17:16, 3 September 2020KhanspersOntology Term : 'autosomal recessive osteopetrosis 8' added !
111728view17:16, 3 September 2020KhanspersOntology Term : 'autosomal recessive osteopetrosis 7' added !
111727view17:16, 3 September 2020KhanspersOntology Term : 'autosomal recessive osteopetrosis 6' added !
111726view17:16, 3 September 2020KhanspersOntology Term : 'autosomal recessive osteopetrosis 5' added !
111725view17:16, 3 September 2020KhanspersOntology Term : 'autosomal recessive osteopetrosis 4' added !
111724view17:15, 3 September 2020KhanspersOntology Term : 'autosomal recessive osteopetrosis 3' added !
111723view17:15, 3 September 2020KhanspersOntology Term : 'autosomal recessive osteopetrosis 2' added !
111722view17:15, 3 September 2020KhanspersOntology Term : 'autosomal recessive osteopetrosis 1' added !
110977view14:27, 25 June 2020EgonwFixed two mim-conversions that were mim-translocations.
110272view06:29, 2 May 2020EgonwReplaced secondary ChEBI identifiers with a primary identifiers.
108987view23:56, 12 February 2020Khanspersdecreased BoardHeight
108986view23:56, 12 February 2020Khanspersdecreased BoardHeight
108985view23:56, 12 February 2020Khanspersdecreased BoardHeight
108984view23:55, 12 February 2020Khansperstried fixing zoom level
108823view05:45, 31 January 2020RleeRemoved extra DataNode
108822view05:44, 31 January 2020RleeModified description
108821view05:43, 31 January 2020RleeModified title
108820view05:43, 31 January 2020RleeNew pathway

External references

DataNodes

View all...
NameTypeDatabase referenceComment
CLCN7GeneProductENSG00000103249 (Ensembl)
Cl-MetaboliteCHEBI:3731 (ChEBI)
GeneProductGeneProduct
H+MetaboliteCHEBI:5584 (ChEBI)
IKBKBGeneProductENSG00000104365 (Ensembl)
NFKB1GeneProductENSG00000109320 (Ensembl)
OSTM1GeneProductENSG00000081087 (Ensembl)
PLEKHM1GeneProductENSG00000225190 (Ensembl)
RAB7AGeneProductENSG00000075785 (Ensembl)
SNX10GeneProductENSG00000086300 (Ensembl)
TCIRG1GeneProductENSG00000110719 (Ensembl)
TNFRSF11AGeneProductENSG00000141655 (Ensembl)
TNFSF11GeneProductENSG00000120659 (Ensembl)
TRAF6GeneProductENSG00000175104 (Ensembl)

Annotated Interactions

No annotated interactions

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