DOCK3, dedicator of cytokinesis 3, 1795

N. diseases: 85; N. variants: 51
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4749014
Disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA
NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA 		0.600 CausalMutation disease CLINVAR
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.120 Biomarker disease HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.120 CausalMutation disease CLINVAR
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia 		0.110 Biomarker phenotype HPO
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation phenotype CLINVAR
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia 		0.100 Biomarker phenotype HPO
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.100 Biomarker disease HPO
CUI: C0241726
Disease: Delayed ability to walk
Delayed ability to walk 		0.100 Biomarker phenotype HPO
CUI: C0399526
Disease: Class III malocclusion
Class III malocclusion 		0.100 Biomarker disease HPO
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.100 Biomarker phenotype HPO
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding) 		0.100 Biomarker phenotype HPO
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		0.100 Biomarker disease HPO
CUI: C1836047
Disease: Long face
Long face 		0.100 Biomarker phenotype HPO
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		0.100 Biomarker phenotype HPO
CUI: C1844505
Disease: Pointed chin
Pointed chin 		0.100 Biomarker phenotype HPO
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.100 Biomarker phenotype HPO
CUI: C3150077
Disease: Mild short stature
Mild short stature 		0.100 Biomarker phenotype HPO
CUI: C0343401
Disease: MRSA - Methicillin resistant Staphylococcus aureus infection
MRSA - Methicillin resistant Staphylococcus aureus infection 		0.060 Biomarker disease BEFREE Moreover, a 4.3 kb HindIII fragment containing MRSA-PBP gene was detected by using the same oligonucleotide probe. 2048117 1991
CUI: C3149841
Disease: POLYCYSTIC KIDNEY DISEASE 1
POLYCYSTIC KIDNEY DISEASE 1 		0.010 GeneticVariation disease BEFREE Further mutations of the PBP gene were found in PKD1 patients, two deletions (one a de novo event) and a splicing defect, confirming that PBP is the PKD1 gene. 8004675 1994
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 Biomarker group BEFREE Seven arylamines have been classified by the International Agency for Research on Cancer: benzidine-based dyes and MOCA (4,4'-methylene bis 2-choloroaniline) were considered 'probably' carcinogenic, Group 2A, because of a high level of evidence in experimental animals; two occupational chemicals (2-naphthylamine and benzidine), one drug (Chlornaphazine), and two manufacturing processes (manufacture of auramine and magenta) were included in Group 1 on the basis of 'sufficient' evidence of carcinogenicity in humans. 9498898 1997
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 Biomarker group BEFREE Seven arylamines have been classified by the International Agency for Research on Cancer: benzidine-based dyes and MOCA (4,4'-methylene bis 2-choloroaniline) were considered 'probably' carcinogenic, Group 2A, because of a high level of evidence in experimental animals; two occupational chemicals (2-naphthylamine and benzidine), one drug (Chlornaphazine), and two manufacturing processes (manufacture of auramine and magenta) were included in Group 1 on the basis of 'sufficient' evidence of carcinogenicity in humans. 9498898 1997
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 Biomarker disease BEFREE We found PBP gene amplification in approximately 24% (6/25) of breast tumors and approximately 30% (2/6) of breast cancer cell lines, implying that PBP gene overexpression can occur independent of gene amplification. 10485914 1999
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 Biomarker phenotype BEFREE These observations, in particular PBP gene amplification, suggest that PBP, by its ability to function as ERalpha coactivator, might play a role in mammary epithelial differentiation and in breast carcinogenesis. 10485914 1999
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 Biomarker disease BEFREE We found PBP gene amplification in approximately 24% (6/25) of breast tumors and approximately 30% (2/6) of breast cancer cell lines, implying that PBP gene overexpression can occur independent of gene amplification. 10485914 1999
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.010 Biomarker group BEFREE We found PBP gene amplification in approximately 24% (6/25) of breast tumors and approximately 30% (2/6) of breast cancer cell lines, implying that PBP gene overexpression can occur independent of gene amplification. 10485914 1999