AutismKB 2.0

Annotation Detail for COL7A1


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Basic Information Top
Gene Symbol:COL7A1 ( EBD1,EBDCT,EBR1 )
Gene Full Name: collagen, type VII, alpha 1
Band: 3p21.31
Quick LinksEntrez ID:1294; OMIM: 120120; Uniprot ID:CO7A1_HUMAN; ENSEMBL ID: ENSG00000114270; HGNC ID: 2214
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
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Pathway IDPathway Name
P00034Integrin signalling pathway
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Related Diseases/Disorders Top
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Desease Name
Epidermolysis bullosa dystrophica, AR
Epidermolysis bullosa pruriginosa
EBD inversa
EBD, Bart type
EBD, localisata variant
Epidermolysis bullosa dystrophica, AD
Toenail dystrophy, isolated
Epidermolysis bullosa, pretibial
Transient bullous of the newborn
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C472791 3-(4'-hydroxy-3'-adamantylbiphenyl-4-yl)acrylic acid 3-(4'-hydroxy-3'-adamantylbiphenyl-4-yl)acrylic acid results in increased expression of COL7A1 mRNAincreases expression 16788091
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of COL7A1 mRNAdecreases expression 20106945
D020122 tert-Butylhydroperoxide tert-Butylhydroperoxide results in increased expression of COL7A1 mRNAincreases expression 15336504
D016572 Cyclosporine Cyclosporine results in decreased expression of COL7A1 mRNAdecreases expression 20106945
D004997 Ethinyl Estradiol Ethinyl Estradiol results in decreased expression of COL7A1 mRNAdecreases expression 17557909
C051890 irinotecan COL7A1 protein results in decreased susceptibility to irinotecandecreases response to substance 16734730
D017239 Paclitaxel COL7A1 protein results in increased susceptibility to Paclitaxelincreases response to substance 16734730
D011374 Progesterone Progesterone affects the expression of COL7A1 mRNAaffects expression 17251523
C002979 selenomethylselenocysteine selenomethylselenocysteine results in decreased expression of COL7A1 mRNAdecreases expression 18514395
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.2617505938
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 4.3220464547 20127859
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 4.3214692618
MESH:D000236 Adenoma Benzo(a)pyrene 2.766695378
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.3319183758
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.7211256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.7815885639
MESH:D001859 Bone Neoplasms Paclitaxel 4.7915867366
MESH:D020201 Brain Hemorrhage, Traumatic Progesterone 5.6617868700
MESH:D001930 Brain Injuries Progesterone 4.5215665606 15380490 15845082
MESH:D001943 Breast Neoplasms marker/mechanism 18507500
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 2.0917474063 20146248
MESH:D001943 Breast Neoplasms Paclitaxel 2.0918323546 11325840 16244791 16115903 18234424 15136595 16273361 18223236
MESH:D001943 Breast Neoplasms Progesterone 2.0916175315 15562024 17614352
MESH:D001943 Breast Neoplasms selenomethylselenocysteine 2.0918855134
MESH:D006528 Carcinoma, Hepatocellular Paclitaxel 2.5516313753
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 2.1020419170
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 2.6612371664
MESH:D002779 Cholestasis Cyclosporine 8.2819486331
MESH:D002779 Cholestasis Ethinyl Estradiol 8.2815861022 11677210 17110522 17681005 17333356 16919318 16105132
MESH:D003110 Colonic Neoplasms irinotecan 2.6217725105 17287894
MESH:D015179 Colorectal Neoplasms marker/mechanism 18507500
MESH:D015179 Colorectal Neoplasms irinotecan 2.9317454858 16391804 15273666 18259882 16303861 17159606 18509181
MESH:D015179 Colorectal Neoplasms Paclitaxel 2.9318802399
MESH:D003929 Diabetic Neuropathies Progesterone 4.7517187935
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 9.8412538720
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Progesterone 9.8417692515
MESH:D004715 Endometriosis Progesterone 3.9616134523
OMIM:131750 EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL DOMINANT marker/mechanism
OMIM:226600 EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE marker/mechanism
OMIM:131850 EPIDERMOLYSIS BULLOSA DYSTROPHICA, PRETIBIAL marker/mechanism
OMIM:604129 EPIDERMOLYSIS BULLOSA PRURIGINOSA marker/mechanism
OMIM:132000 EPIDERMOLYSIS BULLOSA WITH CONGENITAL LOCALIZED ABSENCE OF SKIN AND DEFORMITY OF NAILS marker/mechanism
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 4.8016530937
MESH:D004938 Esophageal Neoplasms Paclitaxel 4.8016481741
MESH:D005234 Fatty Liver Cyclosporine 8.2719224547
MESH:D005234 Fatty Liver Ethinyl Estradiol 8.2715345470
MESH:D005355 Fibrosis Cyclosporine 3.4012639820 12168785
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.508708960
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 2.7520471113
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.7115720958
MESH:D006973 Hypertension Cyclosporine 2.1610903974
MESH:D007021 Hypospadias Ethinyl Estradiol 4.0716945680 16569931
MESH:D020244 Infarction, Middle Cerebral Artery Progesterone 4.6615869954
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.6812013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.6217937319
MESH:D007249 Inflammation Progesterone 2.6915869954
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.7615604871
MESH:D007674 Kidney Diseases Cyclosporine 2.448314463 10903974 18776723
MESH:D007680 Kidney Neoplasms Cyclosporine 2.9012371664
MESH:D008080 Liposarcoma Paclitaxel 5.0417353645
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 2.1020195826 21137059
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 1.5618520028 18816296 20464547 20064080 20869020 18569708 17053015 6695378 20135361
MESH:D008228 Lymphoma, Non-Hodgkin Paclitaxel 4.2614749477
MESH:D008325 Mammary Neoplasms, Experimental Progesterone 7.0817203775 11408345
MESH:D008325 Mammary Neoplasms, Experimental selenomethylselenocysteine 7.0815318939
MESH:D008545 Melanoma Paclitaxel 2.6112025231 12040289 16342250
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.1116801185
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.3516381670
MESH:D052016 Mucositis irinotecan 5.2917159606
MESH:D009101 Multiple Myeloma Paclitaxel 3.8314749477
MESH:D009362 Neoplasm Metastasis irinotecan 6.4518259882
MESH:D009362 Neoplasm Metastasis Paclitaxel 6.4515867366
MESH:D009369 Neoplasms Benzo(a)pyrene 2.2511141357
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.7617954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.4718481113 19348381
MESH:D009447 Neuroblastoma irinotecan 3.578761367
MESH:D017599 Neuroectodermal Tumors irinotecan 5.018761367
MESH:D010014 Osteolysis Paclitaxel 5.2615867366
MESH:D010051 Ovarian Neoplasms Paclitaxel 5.3411161223
MESH:D010051 Ovarian Neoplasms Progesterone 5.3417393432 16525653
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.9111578682
MESH:D011230 Precancerous Conditions Cyclosporine 3.4012371664
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 3.3417292933
MESH:D011471 Prostatic Neoplasms Paclitaxel 3.3416356831 17172428 17136230 16729912
MESH:D011537 Pruritus Ethinyl Estradiol 3.6015861022 16919318
MESH:D011565 Psoriasis Cyclosporine 2.2916882103
MESH:D012468 Salivary Gland Neoplasms Progesterone 2.9118045962
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 6.0010029692 19755658
MESH:D012878 Skin Neoplasms tert-Butylhydroperoxide 6.008532709
MESH:D013088 Spermatocele Ethinyl Estradiol 4.2616709447
MESH:D013119 Spinal Cord Injuries Progesterone 4.5615862959 16503802
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 3.5920155912 2093021
MESH:D013274 Stomach Neoplasms irinotecan 3.5915723263
MESH:D013274 Stomach Neoplasms Paclitaxel 3.5918506536 18396642
MESH:D024801 Tauopathies Paclitaxel 5.1016930453
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.8411994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.3315669648
OMIM:607523 TOENAIL DYSTROPHY, ISOLATED marker/mechanism
MESH:C536979 Transient bullous dermolysis of the newborn marker/mechanism
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 2.2417053015
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.5414692618
MESH:D014605 Uveitis Cyclosporine 4.301336536
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.7515869587 14671159
MESH:D014985 Xerophthalmia Cyclosporine 4.7617120751
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Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA26730
    • No data
    Releated disease ID Related disease Name
    PA446273Epidermolysis Bullosa Dystrophica
    PA443626Carcinoma, Squamous Cell
    PA443560Breast Neoplasms
    No data
    Drug Bank Top

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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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