AutismKB 2.0

Annotation Detail for EFCAB7


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Basic Information Top
Gene Symbol:EFCAB7 ( DKFZp666D225,KIAA1799,RP4-534K7.1 )
Gene Full Name: EF-hand calcium binding domain 7
Band: 1p31.3
Quick LinksEntrez ID:84455; OMIM: NA; Uniprot ID:EFCB7_HUMAN; ENSEMBL ID: ENSG00000203965; HGNC ID: 29379
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C009505 4,4'-diaminodiphenylmethane 4,4'-diaminodiphenylmethane results in decreased expression of EFCAB7 mRNAdecreases expression 18648102
D016572 Cyclosporine Cyclosporine results in increased expression of EFCAB7 mRNAincreases expression 20106945
D002117 Calcitriol Calcitriol results in increased expression of EFCAB7 mRNAincreases expression 16002434
D004317 Doxorubicin EFCAB7 protein affects the susceptibility to Doxorubicinaffects response to substance 16217747
D017239 Paclitaxel EFCAB7 protein affects the susceptibility to Paclitaxelaffects response to substance 16217747
D014747 Vinblastine EFCAB7 protein affects the susceptibility to Vinblastineaffects response to substance 16217747
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000230 Adenocarcinoma Doxorubicin 2.6317418594
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 2.923712494
MESH:D000419 Albuminuria Doxorubicin 4.9321441931
MESH:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 5.5411289319 1440618
MESH:D019046 Bone Marrow Neoplasms Doxorubicin 5.2214601052
MESH:D001859 Bone Neoplasms Paclitaxel 4.9215867366
MESH:D001932 Brain Neoplasms Doxorubicin 4.1117150277
MESH:D001943 Breast Neoplasms Calcitriol 2.0911237771
MESH:D001943 Breast Neoplasms Doxorubicin 2.0915136595 16826403 18628466 15993339 16096432 15634643 16264153 15668708 15939500 17369602 18695136 15994142 19526202 16935488 18382427 18234424 15692762 16115903 16595493 17426702 17983394 15567936 16322301 11325840
MESH:D001943 Breast Neoplasms Paclitaxel 2.0911325840 15136595 16115903 18323546 18223236 16244791 18234424 16273361
MESH:D002276 Carcinoid Tumor Doxorubicin 5.3316051944
MESH:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 4.957296757 3581430
MESH:D006528 Carcinoma, Hepatocellular Doxorubicin 4.9518059187 16234567 16023760 17876044
MESH:D006528 Carcinoma, Hepatocellular Paclitaxel 4.9516313753
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 11.627296757
MESH:D002292 Carcinoma, Renal Cell Doxorubicin 11.621485588 16201981
MESH:D002292 Carcinoma, Renal Cell Vinblastine 11.621485588
MESH:D002294 Carcinoma, Squamous Cell Calcitriol 5.1511237771
MESH:D002294 Carcinoma, Squamous Cell Doxorubicin 5.156189445
MESH:D009202 Cardiomyopathies Doxorubicin 3.7216364871 16242529 15476868 16612575 17131338 15811867 16731534 17974986 17329180 17007740 17308081 17928571 17519947 15792986 16109756 17924179 15505089 16455267 16651473 16952015 18627295 16278810 17382496 16269455 17351982
MESH:D002311 Cardiomyopathy, Dilated Doxorubicin 3.0317334414 16243910
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 7.277505956
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 7.2712371664
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 8.659022650 19486331
MESH:D002779 Cholestasis Cyclosporine 8.6519486331
MESH:D015179 Colorectal Neoplasms Doxorubicin 3.7818259882 18802399
MESH:D015179 Colorectal Neoplasms Paclitaxel 3.7818802399
MESH:D015179 Colorectal Neoplasms Vinblastine 3.7818802399
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 3.218156756 11906362 18759878 11298694 12868966 8970840 2524372 14531868
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 3.842952479 3621924
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 4.281440618 18692083 16192314 9653073 18289764 6482804 6679447 11289319 9022650 8291058 7440962 18648102 9328219
MESH:D056486 Drug-Induced Liver Injury Doxorubicin 4.2817416283
MESH:D004362 Drug Toxicity Doxorubicin 3.9018602426
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Calcitriol 4.3115138306
MESH:D016889 Endometrial Neoplasms Doxorubicin 3.6417359293
MESH:D004719 Endomyocardial Fibrosis Doxorubicin 5.6818037988
MESH:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 4.913581430
MESH:D004938 Esophageal Neoplasms Paclitaxel 4.9116481741
MESH:D005234 Fatty Liver Cyclosporine 3.1819224547
MESH:D005350 Fibroma 4,4'-diaminodiphenylmethane 5.546705139
MESH:D018222 Fibromatosis, Aggressive Doxorubicin 5.0519069698
MESH:D005355 Fibrosis Cyclosporine 3.5612168785 12639820
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.688708960
MESH:D005909 Glioblastoma Doxorubicin 3.5417150277
MESH:D006042 Goiter 4,4'-diaminodiphenylmethane 4.397505956
MESH:D006258 Head and Neck Neoplasms Doxorubicin 3.7315692506
MESH:D006331 Heart Diseases Doxorubicin 3.6916244372 17888722 14766674 16707910 16330681 16144979 16879835 12587719 17875725 18674790 16495754 16244371 18006777
MESH:D006333 Heart Failure Doxorubicin 3.5217481944
MESH:D006394 Hemangiosarcoma Doxorubicin 4.2315692506
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.8815720958
MESH:D006505 Hepatitis 4,4'-diaminodiphenylmethane 3.896705139
MESH:D006689 Hodgkin Disease Doxorubicin 8.7615147373 17606976 18501091
MESH:D006689 Hodgkin Disease Vinblastine 8.7618501091 18180244
MESH:D006965 Hyperplasia 4,4'-diaminodiphenylmethane 4.3615034207
MESH:D006973 Hypertension Cyclosporine 2.1910903974
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 5.548074119 9022650
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.9615604871
MESH:D007674 Kidney Diseases Cyclosporine 6.6618776723 10903974 8314463
MESH:D007674 Kidney Diseases Doxorubicin 6.6615699352 15369732 16775033
MESH:D007676 Kidney Failure, Chronic Doxorubicin 4.4816707910
MESH:D007680 Kidney Neoplasms 4,4'-diaminodiphenylmethane 8.176582329
MESH:D007680 Kidney Neoplasms Cyclosporine 8.1712371664
MESH:D004915 Leukemia, Erythroblastic, Acute Doxorubicin 5.6816085563
MESH:D008080 Liposarcoma Paclitaxel 5.1717353645
MESH:D008105 Liver Cirrhosis, Biliary 4,4'-diaminodiphenylmethane 3.3815034207 9327722
MESH:D008106 Liver Cirrhosis, Experimental Doxorubicin 2.1516595196 16439617
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 6.67598648 1399818 6587162 3712494
MESH:D008114 Liver Neoplasms, Experimental Doxorubicin 6.6717085340 16842330
MESH:D008175 Lung Neoplasms Doxorubicin 2.156189445 17418594
MESH:D008223 Lymphoma Doxorubicin 3.6816098063
MESH:D008228 Lymphoma, Non-Hodgkin Doxorubicin 9.8717654614
MESH:D008228 Lymphoma, Non-Hodgkin Paclitaxel 9.8714749477
MESH:D016399 Lymphoma, T-Cell Doxorubicin 4.9815621674
MESH:D008325 Mammary Neoplasms, Experimental Doxorubicin 3.2115458769
MESH:D008545 Melanoma Doxorubicin 5.6216827129
MESH:D008545 Melanoma Paclitaxel 5.6212025231 16342250 12040289
MESH:D008545 Melanoma Vinblastine 5.6218176117 15577323 12374674 16809738 15577320 18505091 18332650 17761969 16432458 16248763
MESH:D008654 Mesothelioma Doxorubicin 3.1617638057
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.3116801185
MESH:D028361 Mitochondrial Diseases Doxorubicin 4.8315792986
MESH:D052016 Mucositis Doxorubicin 5.2517415656
MESH:D009101 Multiple Myeloma Paclitaxel 3.9014749477
MESH:D009203 Myocardial Infarction Doxorubicin 3.0519429709 15857846
MESH:D009362 Neoplasm Metastasis 4,4'-diaminodiphenylmethane 10.233581430
MESH:D009362 Neoplasm Metastasis Doxorubicin 10.2318259882
MESH:D009362 Neoplasm Metastasis Paclitaxel 10.2315867366
MESH:D009401 Nephrosis Doxorubicin 5.1916636307 16899518
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.9617954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 10.2619348381 18481113
MESH:D009404 Nephrotic Syndrome Doxorubicin 10.2615640375 16889571
MESH:D009436 Neural Tube Defects 4,4'-diaminodiphenylmethane 3.106679447
MESH:D009447 Neuroblastoma Doxorubicin 3.4015555623
MESH:D009503 Neutropenia Vinblastine 4.9217378895
MESH:D009784 Occupational Diseases 4,4'-diaminodiphenylmethane 3.726482804 4026338
MESH:D009902 Optic Neuritis 4,4'-diaminodiphenylmethane 5.543988306
MESH:D010014 Osteolysis Paclitaxel 5.4415867366
MESH:D012516 Osteosarcoma Doxorubicin 4.3715930896
MESH:D010051 Ovarian Neoplasms Paclitaxel 3.0611161223
MESH:D010212 Papilloma 4,4'-diaminodiphenylmethane 3.907296757
MESH:D010787 Photosensitivity Disorders 4,4'-diaminodiphenylmethane 4.996228378
MESH:D003557 Phyllodes Tumor Doxorubicin 5.6817983394
MESH:D010997 Pleural Neoplasms Doxorubicin 5.6817638057
MESH:D011230 Precancerous Conditions Cyclosporine 3.5112371664
MESH:D011470 Prostatic Hyperplasia Calcitriol 5.2415572423
MESH:D011471 Prostatic Neoplasms Calcitriol 2.6918247401 16289102 12479363 16644109 15754350
MESH:D011471 Prostatic Neoplasms Doxorubicin 2.6916888761 15897917 16729912 18437689 16868541 15749863
MESH:D011471 Prostatic Neoplasms Paclitaxel 2.6917172428 16356831 16729912 17136230
MESH:D011565 Psoriasis Cyclosporine 2.3116882103
MESH:D051437 Renal Insufficiency Doxorubicin 4.6417922066
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 3.613692021
MESH:D012509 Sarcoma Doxorubicin 4.2917203757 15625365 15675481 16767912 18313854 17710206
MESH:D012512 Sarcoma, Ewing's Doxorubicin 4.6216326096 14601052
MESH:D012514 Sarcoma, Kaposi Doxorubicin 5.2517846226
MESH:D012878 Skin Neoplasms Doxorubicin 3.0815692506
MESH:D012983 Soft Tissue Neoplasms Doxorubicin 4.9817203757 15625365 16767912
MESH:D013274 Stomach Neoplasms Paclitaxel 2.4418396642 18506536
MESH:D024801 Tauopathies Paclitaxel 5.2716930453
MESH:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 8.073712494 6582329 1399818 6587162 7505956
MESH:D013964 Thyroid Neoplasms Doxorubicin 8.0716010429 17909728
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 5.538074119
MESH:D001749 Urinary Bladder Neoplasms Doxorubicin 5.5317653716
MESH:D014605 Uveitis Cyclosporine 4.501336536
MESH:D014625 Vaginal Neoplasms Vinblastine 5.4615577323
MESH:D018487 Ventricular Dysfunction, Left Doxorubicin 4.6417638931 17334414 17678736 16364871
MESH:D014985 Xerophthalmia Cyclosporine 4.9617120751
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


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