AutismKB 2.0

Annotation Detail for PAX4


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Basic Information Top
Gene Symbol:PAX4 ( KPD,MGC129960,MODY9 )
Gene Full Name: paired box 4
Band: 7q32.1
Quick LinksEntrez ID:5078; OMIM: 167413; Uniprot ID:PAX4_HUMAN; ENSEMBL ID: ENSG00000106331; HGNC ID: 8618
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04950Maturity onset diabetes of the young
Pathway IDPathway Name
Regulation of beta-cell development
No data
No data
Pathway IDPathway Name
500521Regulation of gene expression in endocrine-committed (NEUROG3+) progenitor cells
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1904Diabetes mellitus
2051Leukemia
Desease Name
diabetes, type 1
IMMUNE
METABOLIC
diabetes, type 2
No data
Desease Name
Diabetes mellitus, type 2
Diabetes mellitus, ketosis-prone
Maturity-onset diabetes of the young, type IX
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000643 Ammonium Chloride Ammonium Chloride affects the expression of PAX4 mRNAaffects expression 16483693
D001374 Azacitidine Azacitidine results in increased expression of PAX4 mRNAincreases expression 18949370
C002791 bismuth tripotassium dicitrate bismuth tripotassium dicitrate results in decreased expression of PAX4 mRNAdecreases expression 15912405
C014347 decitabine decitabine affects the expression of PAX4 mRNAaffects expression 16701883
D014810 Vitamin E Vitamin E results in decreased expression of PAX4 mRNAdecreases expression 19244175
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000138 Acidosis Ammonium Chloride 4.1018287403
MESH:D001943 Breast Neoplasms decitabine 2.5418320071 19208741
MESH:D002252 Carbon Tetrachloride Poisoning Vitamin E 4.4116050911
MESH:D002294 Carcinoma, Squamous Cell decitabine 2.6719215824
MESH:D003110 Colonic Neoplasms decitabine 2.3817616700
MESH:D015179 Colorectal Neoplasms Azacitidine 2.9619934284
MESH:D015179 Colorectal Neoplasms decitabine 2.9618981723
MESH:D019465 Craniofacial Abnormalities Vitamin E 1.9219769572
MESH:D003922 Diabetes Mellitus, Type 1 marker/mechanism
MESH:D003924 Diabetes Mellitus, Type 2 marker/mechanism
MESH:C538011 Eales disease Vitamin E 5.329068938
MESH:D004701 Endocrine Gland Neoplasms decitabine 5.7319294695
MESH:D006258 Head and Neck Neoplasms decitabine 3.7119215824
MESH:D006330 Heart Defects, Congenital Vitamin E 3.1516080930
MESH:D006548 Hernia, Diaphragmatic Vitamin E 2.8016490937 16863852
MESH:D019584 Hot Flashes Vitamin E 4.5814716179
MESH:D007248 Infertility, Male decitabine 3.4217581917
MESH:D007251 Influenza, Human Vitamin E 4.8316624496
MESH:D007674 Kidney Diseases Vitamin E 2.9812488133
MESH:D007938 Leukemia Azacitidine 7.2819148494
MESH:D007938 Leukemia decitabine 7.2819235587 18980019
MESH:D007951 Leukemia, Myeloid Azacitidine 11.1719077051
MESH:D007951 Leukemia, Myeloid decitabine 11.1717236224 19117987 18454857
MESH:D015470 Leukemia, Myeloid, Acute Azacitidine 4.4818720364 17596541
MESH:D015470 Leukemia, Myeloid, Acute decitabine 4.4818206229 18704418 19010910 19387464 18460780 17679729
MESH:D015477 Leukemia, Myelomonocytic, Chronic decitabine 6.0718055864
MESH:D054429 Leukemia, Myelomonocytic, Juvenile Azacitidine 5.6019299654
MESH:D008106 Liver Cirrhosis, Experimental Vitamin E 1.9016169303
MESH:D008171 Lung Diseases Vitamin E 3.4016863852
MESH:D008175 Lung Neoplasms Azacitidine 2.9321224363
MESH:D008175 Lung Neoplasms Vitamin E 2.9311062179
MESH:D008223 Lymphoma decitabine 3.6619470736
OMIM:612225 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 9 marker/mechanism
MESH:D008545 Melanoma marker/mechanism 18949370
MESH:D008545 Melanoma decitabine 2.2816505122 17785578
MESH:D009006 Monosomy Azacitidine 6.6919299654
MESH:D009101 Multiple Myeloma Azacitidine 8.5218443271 19549372
MESH:D009101 Multiple Myeloma decitabine 8.5218172295
MESH:D009190 Myelodysplastic Syndromes Azacitidine 8.4218720364 17596541 19805378 17611569
MESH:D009190 Myelodysplastic Syndromes decitabine 8.4219010910 18608210 19157545 16882708
MESH:D009369 Neoplasms decitabine 2.8619116145 17925555 19470736
MESH:D010051 Ovarian Neoplasms decitabine 2.7319259094 19331143
MESH:D010190 Pancreatic Neoplasms decitabine 2.8619294695
MESH:D055728 Primary Myelofibrosis decitabine 5.2117616702
MESH:D011471 Prostatic Neoplasms Azacitidine 3.5418324645
MESH:D011471 Prostatic Neoplasms Vitamin E 3.5415084515
MESH:D012208 Rhabdomyosarcoma decitabine 4.8119155313
MESH:D012871 Skin Diseases Vitamin E 2.5118709164
MESH:D013274 Stomach Neoplasms decitabine 2.1019037991
MESH:D020521 Stroke Vitamin E 3.8116517955
MESH:D013964 Thyroid Neoplasms decitabine 3.6017967635
MESH:D001749 Urinary Bladder Neoplasms decitabine 2.8317616700 19087683
MESH:D014604 Uveal Neoplasms decitabine 5.5217785578
Pathway ID Pathway Name
KEGG:04950 Maturity onset diabetes of the young
REACT:13641 Regulation of Beta-Cell Development
REACT:13698 Regulation of beta-cell development
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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