AutismKB 2.0

Annotation Detail for BBS7


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Basic Information Top
Gene Symbol:BBS7 ( BBS2L1,FLJ10715 )
Gene Full Name: Bardet-Biedl syndrome 7
Band: 4q27
Quick LinksEntrez ID:55212; OMIM: 607590; Uniprot ID:BBS7_HUMAN; ENSEMBL ID: ENSG00000138686; HGNC ID: 18758
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
Desease IDDesease Name
Other genetic disorders
H00418Bardet-Biedl syndrome
Genetic disorders
No data
No data
No data
Desease Name
Bardet-Biedl syndrome 7
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of BBS7 mRNAaffects expression 21346803
D016604 Aflatoxin B1 Aflatoxin B1 affects the expression of BBS7 proteinaffects expression 20106945
D004041 Dietary Fats Dietary Fats results in decreased expression of BBS7 mRNAdecreases expression 18042831
C041786 palm oil palm oil results in decreased expression of BBS7 mRNAdecreases expression 18042831
D011374 Progesterone Progesterone results in increased expression of BBS7 mRNAincreases expression 18070364
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D001161 Arteriosclerosis Dietary Fats 4.3715238619
MESH:D020788 Bardet-Biedl Syndrome marker/mechanism
MESH:D020201 Brain Hemorrhage, Traumatic Progesterone 5.9517868700
MESH:D001930 Brain Injuries Progesterone 4.7415845082 15380490 15665606
MESH:D001943 Breast Neoplasms Dietary Fats 2.2320435547
MESH:D001943 Breast Neoplasms Progesterone 2.2315562024 16175315 17614352
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 3.1616705839
MESH:D006528 Carcinoma, Hepatocellular Aflatoxin B1 3.1612907637 21507988 12619106
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 3.006135515
MESH:D003490 Cyanosis 2,6-dinitrotoluene 4.5018551238
MESH:D003929 Diabetic Neuropathies Progesterone 4.9817187935
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 2.0421346803 18551238
MESH:D050171 Dyslipidemias Dietary Fats 3.7018367378
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Progesterone 4.2217692515
MESH:D004715 Endometriosis Progesterone 4.1116134523
MESH:D005234 Fatty Liver Dietary Fats 3.6118296743 17967931 19004024 19551842
MESH:D005355 Fibrosis Dietary Fats 4.0118296743
MESH:D006937 Hypercholesterolemia Dietary Fats 3.9721332399
MESH:D006949 Hyperlipidemias Dietary Fats 4.0221332399
MESH:D020244 Infarction, Middle Cerebral Artery Progesterone 4.8915869954
MESH:D007249 Inflammation Dietary Fats 5.7320412841
MESH:D007249 Inflammation Progesterone 5.7315869954
MESH:D007333 Insulin Resistance Dietary Fats 3.3211836018 18457598
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 3.2816705839
MESH:D008103 Liver Cirrhosis Dietary Fats 3.0518296743
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 4.977678174
MESH:D008113 Liver Neoplasms Aflatoxin B1 4.9718177683 15890375 9163691 2125692
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 6.652876786 2876784 6135515
MESH:D008114 Liver Neoplasms, Experimental Aflatoxin B1 6.658603461
MESH:D008175 Lung Neoplasms Aflatoxin B1 1.8814755239
MESH:D008325 Mammary Neoplasms, Experimental Progesterone 3.0711408345 17203775
MESH:D009336 Necrosis 2,6-dinitrotoluene 4.407678174 18551238
MESH:D009765 Obesity Dietary Fats 2.3521332399 18457598 20132043 16723640 19632207 17217161 18674790 11836018 20518802
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 3.7816049721
MESH:D010051 Ovarian Neoplasms Progesterone 2.6117393432 16525653
MESH:D012468 Salivary Gland Neoplasms Progesterone 2.9518045962
MESH:D012640 Seizures 2,6-dinitrotoluene 2.7618551238
MESH:D013119 Spinal Cord Injuries Progesterone 4.8215862959 16503802
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 2.4016049721
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 4.8610091137
MESH:D015430 Weight Gain Dietary Fats 4.0616723640
No data
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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018