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This gene encodes a member of a homeobox transcription factor gene family similiar to the Drosophila distal-less gene. The encoded protein may play a role in bone development and fracture healing. Mutation in this gene, which is located in a tail-to-tail configuration with another member of the family on the long arm of chromosome 7, may be associated with split-hand/split-foot malformation. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  这个基因编码同源框转录因子基因家族类同果蝇远侧少基因的一个成员。所编码的蛋白质可能在骨发育和骨折愈合的作用。这个基因,它位于一个尾对尾配置与家族的另一成员7号染色体长臂,突变可能与拆分手/拆分脚畸形有关。 [由RefSeq的,2008年7月提供]
DLX5基因(以及对应的蛋白质)的细胞分布位置:
DLX5基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Split-Hand/Foot Malformation With Sensorineural Hearing Loss | 0.36 | 1 | 1 | CLINVAR_ORPHANET_UNIPROT |
Split hand foot deformity 1 | 0.201085767 | 4 | 2 | BeFree_CLINVAR_MGD |
Ectrodactyly | 0.120814326 | 3 | 0 | BeFree_ORPHANET |
Craniofacial Abnormalities | 0.120271442 | 4 | 0 | BeFree_CTD_human |
Bone Diseases, Developmental | 0.12 | 1 | 0 | CTD_human |
Rett Syndrome | 0.00408156 | 5 | 0 | BeFree_LHGDN |
Lung Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
Split-Hand/Foot Malformation | 0.001357209 | 5 | 0 | BeFree |
Congenital Foot Deformity | 0.000814326 | 3 | 0 | BeFree |
Autistic Disorder | 0.000542884 | 2 | 0 | BeFree |
Cleft Palate | 0.000542884 | 2 | 0 | BeFree |
T-Cell Lymphoma | 0.000542884 | 2 | 0 | BeFree |
Malignant neoplasm of lung | 0.000542884 | 2 | 0 | BeFree |
Leukemogenesis | 0.000542884 | 2 | 0 | BeFree |
Carcinoma of lung | 0.000542884 | 2 | 0 | BeFree |
Malignant neoplasm of breast | 0.000271442 | 1 | 0 | BeFree |
Non-Small Cell Lung Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Congenital chromosomal disease | 0.000271442 | 1 | 0 | BeFree |
Craniosynostosis | 0.000271442 | 1 | 0 | BeFree |
Sensorineural Hearing Loss (disorder) | 0.000271442 | 1 | 0 | BeFree |
Lymphoma | 0.000271442 | 1 | 0 | BeFree |
Neoplasm Metastasis | 0.000271442 | 1 | 0 | BeFree |
Ovarian Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Pierre Robin Syndrome | 0.000271442 | 1 | 0 | BeFree |
Turner Syndrome | 0.000271442 | 1 | 0 | BeFree |
Ovarian Failure, Premature | 0.000271442 | 1 | 0 | BeFree |
Secondary malignant neoplasm of lung | 0.000271442 | 1 | 0 | BeFree |
Hearing Loss, Mixed Conductive-Sensorineural | 0.000271442 | 1 | 0 | BeFree |
Breast Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Limb defects | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of ovary | 0.000271442 | 1 | 0 | BeFree |
Cancer Cell Growth | 0.000271442 | 1 | 0 | BeFree |
Auriculo-condylar syndrome | 0.000271442 | 1 | 0 | BeFree |
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