AutismKB 2.0

Annotation Detail for NRL


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Basic Information Top
Gene Symbol:NRL ( D14S46E,NRL-MAF,RP27 )
Gene Full Name: neural retina leucine zipper
Band: 14q11.2-q12
Quick LinksEntrez ID:4901; OMIM: 162080; Uniprot ID:NRL_HUMAN; ENSEMBL ID: ENSG00000129535; HGNC ID: 8002
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
No data
Desease Name
retinitis pigmentosa
No data
Desease Name
Retinitis pigmentosa-27
Retinal degeneration, autosomal recessive, clumped pigment type
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C038864 4-(2-(5,6,7,8-tetrahydro-5,5,8,8-tetramethyl-2-naphthalenyl)-1-propenyl)benzoic acid 4-(2-(5,6,7,8-tetrahydro-5,5,8,8-tetramethyl-2-naphthalenyl)-1-propenyl)benzoic acid results in increased expression of NRL mRNAincreases expression 16854989
C038864 4-(2-(5,6,7,8-tetrahydro-5,5,8,8-tetramethyl-2-naphthalenyl)-1-propenyl)benzoic acid 4-(2-(5,6,7,8-tetrahydro-5,5,8,8-tetramethyl-2-naphthalenyl)-1-propenyl)benzoic acid results in increased expression of NRL proteinincreases expression 16854989
C103303 alitretinoin alitretinoin results in increased expression of NRL mRNAincreases expression 16854989
C103303 alitretinoin alitretinoin results in increased expression of NRL proteinincreases expression 16854989
C419708 gefitinib gefitinib results in decreased expression of NRL mRNAdecreases expression 16685379
D014212 Tretinoin Tretinoin results in increased expression of NRL mRNAincreases expression 16854989
D014212 Tretinoin Tretinoin results in increased expression of NRL proteinincreases expression 16854989
D014212 Tretinoin [Tretinoin binds to RARA protein] which binds to NRL promoteraffects binding 16854989
D014212 Tretinoin [Tretinoin binds to RXRA protein] which binds to NRL promoteraffects binding 16854989
D014212 Tretinoin [Tretinoin binds to RXRG protein] which binds to NRL promoteraffects binding 16854989
D014212 Tretinoin Tretinoin results in increased expression of NRL mRNAincreases expression 16854989
D014212 Tretinoin Tretinoin results in increased expression of NRL proteinincreases expression 16854989
D014212 Tretinoin Tretinoin results in increased expression of NRL proteinincreases expression 16854989
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000505 Alopecia Tretinoin 3.9415955085
MESH:D001169 Arthritis, Experimental Tretinoin 3.3016412693
MESH:D001172 Arthritis, Rheumatoid Tretinoin 2.3316292516
MESH:D001249 Asthma Tretinoin 2.4316456186
MESH:D001471 Barrett Esophagus Tretinoin 4.9116935849
MESH:D001778 Blood Coagulation Disorders Tretinoin 4.0316197459 16206674
MESH:D001943 Breast Neoplasms alitretinoin 2.4716344269
MESH:D001943 Breast Neoplasms Tretinoin 2.4716873071 16166294 16443354
MESH:D001997 Bronchopulmonary Dysplasia Tretinoin 5.2216813970
MESH:D018236 Carcinoma, Embryonal Tretinoin 5.8816168501
MESH:D006528 Carcinoma, Hepatocellular Tretinoin 1.921917145
MESH:D002289 Carcinoma, Non-Small-Cell Lung gefitinib 4.0516230376 20005069 17290066 18347146 19233551 15496427
MESH:D002294 Carcinoma, Squamous Cell Tretinoin 2.3716051514 16096774
MESH:D002386 Cataract Tretinoin 3.3017460283
MESH:D018290 Cervical Intraepithelial Neoplasia Tretinoin 5.2216129372
MESH:D002822 Choriocarcinoma Tretinoin 5.8816461808
MESH:D002972 Cleft Palate Tretinoin 2.809407595
MESH:D003092 Colitis Tretinoin 4.2617035595
MESH:D015179 Colorectal Neoplasms gefitinib 3.2517594712
MESH:D019465 Craniofacial Abnormalities Tretinoin 1.839664655 9142499 10589399 14991402 17551590 9211117 9224671 8800419 9125849 16925845
MESH:D004489 Edema, Cardiac Tretinoin 5.1918230668
MESH:D016889 Endometrial Neoplasms Tretinoin 3.3516569247
MESH:D005124 Eye Abnormalities Tretinoin 3.879664655 16938888
MESH:D005355 Fibrosis Tretinoin 4.0717994277
MESH:D005909 Glioblastoma Tretinoin 3.2417312396
MESH:D006258 Head and Neck Neoplasms Tretinoin 3.4416096774
MESH:D006317 Hearing Loss, Noise-Induced Tretinoin 5.8816084493
MESH:D006330 Heart Defects, Congenital Tretinoin 3.0714991402 9664655
MESH:D006930 Hyperalgesia Tretinoin 3.5316870215
MESH:D017681 Hypereosinophilic Syndrome Tretinoin 5.1316778211
MESH:D006976 Hypertension, Pulmonary gefitinib 4.9718424623
MESH:D017380 Hypertrophy, Right Ventricular gefitinib 6.8718424623
MESH:D007410 Intestinal Diseases Tretinoin 4.3317994277
MESH:D007569 Jaw Abnormalities Tretinoin 4.3317551590 15992940
MESH:D017492 Keratosis, Seborrheic alitretinoin 6.2716144296
MESH:D007680 Kidney Neoplasms gefitinib 4.8918625569
MESH:D007938 Leukemia Tretinoin 2.9317143497
MESH:D007951 Leukemia, Myeloid Tretinoin 4.1216482212 16932348 19285840
MESH:D015470 Leukemia, Myeloid, Acute Tretinoin 2.1219850784 16294345 17596541
MESH:D015473 Leukemia, Promyelocytic, Acute Tretinoin 3.3916766008 9834237 17301526 19642359 19029980 17339181 17649720 19075265 19225113 17712046 17217047 19035177 15748426 16140955 16935935 17294898 17506722 16788101 12679006 16823087 16891316 17361223 17368321 17107899 16331271
MESH:D017880 Limb Deformities, Congenital Tretinoin 3.589224671
MESH:D008106 Liver Cirrhosis, Experimental Tretinoin 1.8116248980 18397230
MESH:D008175 Lung Neoplasms alitretinoin 2.6516413115
MESH:D008325 Mammary Neoplasms, Experimental gefitinib 4.3618375820
MESH:D008527 Medulloblastoma Tretinoin 2.9117453147
MESH:D008545 Melanoma Tretinoin 1.9816752155
MESH:D008591 Meningomyelocele Tretinoin 4.9916940565
MESH:D009190 Myelodysplastic Syndromes Tretinoin 3.2817596541
MESH:D009369 Neoplasms alitretinoin 5.9516946489
MESH:D009369 Neoplasms Tretinoin 5.9516946489 16594593
MESH:D009421 Nervous System Malformations Tretinoin 4.289125849
MESH:D009436 Neural Tube Defects Tretinoin 3.299142499
MESH:D010051 Ovarian Neoplasms Tretinoin 2.4416936753
MESH:D010146 Pain Tretinoin 3.2416870215
MESH:D010190 Pancreatic Neoplasms Tretinoin 2.5715976015
MESH:D017499 Porokeratosis alitretinoin 6.7316144296
MESH:D011471 Prostatic Neoplasms gefitinib 4.5916685379 15651060 17914592
MESH:D011507 Proteinuria Tretinoin 4.0716636307
MESH:D011625 Pterygium Tretinoin 5.4216723453
MESH:D011658 Pulmonary Fibrosis gefitinib 4.1218424623
MESH:D012174 Retinitis Pigmentosa marker/mechanism
MESH:D012208 Rhabdomyosarcoma Tretinoin 4.5616283617 16116481
MESH:D012878 Skin Neoplasms Tretinoin 2.7616467112
MESH:D013274 Stomach Neoplasms Tretinoin 1.8017261132
MESH:D013964 Thyroid Neoplasms gefitinib 8.7516940797
MESH:D013964 Thyroid Neoplasms Tretinoin 8.7516026305 17045167
MESH:D014062 Tongue Neoplasms Tretinoin 4.1816051514
MESH:D014376 Tuberculosis Tretinoin 3.4516040207
MESH:D002583 Uterine Cervical Neoplasms Tretinoin 4.0716129372
MESH:D014604 Uveal Neoplasms Tretinoin 5.3316752155
MESH:D014820 Vitiligo Tretinoin 4.5616761959
MESH:D009396 Wilms Tumor Tretinoin 4.3416287080
No data
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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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