Disease table of HYPOSPADIAS OMIM ID: PS300633

Gene-disease associations table

GeneAssociated with HYPOSPADIAS inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
MAMLD1ClinVar, OMIMHGNC linkXq281PS300633
ARClinVar, OMIMHGNC linkXq125300068, 176807, 313200, 312300, PS300633

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
By arm
Shared armNumber of genes associated with the diseaseGenes associated with the disease
Xq2AR, MAMLD1
By chromosome
Shared chromosomeNumber of genes associated with the diseaseGenes associated with the disease
X2AR, MAMLD1
Transcription Factors (TF) annotation from TRRUST
TFassociated to this disease# regulated genesRegulated genes# regulated genes associated with this diseaseRegulated genes associated with this disease
ARYES83UGT2B15, PTPN1, CDH11, AKR1C3, USP26, FOLH1, CCR2, CDK20, CDK6, PNRC1, ARG1, XIAP, VIM, ARG2, EGFR, CFLAR, ETV1, BSG, IGF1R, MUC1, WEE1, PTGS2, NKX3-1, AKT1, NRAS, CDH1, EP300, KLF5, ACTA1, CLK3, FN1, TNF, PRL, ERBB2, ERBB3, CRISP3, CTNNB1, PTEN, CRISP1, SERPINB5, TSC2, NAT1, CDKN1A, GREB1, SEPT7, IFI16, PIGR, KLK3, PC, STIM1, SRD5A3, TCF7L2, JUN, TMPRSS2, RELA, TJP1, BTG1, VEGFA, NFKB1, HMMR, FKBP5, KLK4, CRH, CDH2, BTG2, TGFA, SESN1, CDC6, TH, ALDH1A3, KISS1, KISS1R, PEBP1, KLK2, ATAD2, HMOX1, TSC1, WNT7B, PEG10, TRPS1, CCND1, PIP, FOXA10
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
ARYES37PIAS1, SOX9, TCF21, PURA, TRIM24, URI1, NCOR1, SP1, NKX3-1, POU2F1, EGR1, PA2G4, HOXB13, CREB1, NCOR2, KHDRBS1, NCOA2, YBX1, FOXO3, HDAC1, WT1, ESR1, LEF1, IFI16, ETV1, AES, RELA, NCOA4, NFKB1, E2F1, FOXH1, SREBF1, JUN, BRD7, NSD1, ZEB1, HIF1A0
Interactions from BIOGRID - physical
Interactions from BIOGRID - genetic
Interactions from STRING
Interactions from CORUM
Interactions from CENSUS
Interactions from PDB
Interactions from manually curated literature
KEGG pathways annotation: shared terms / NET-GE enrichment (no shared terms)
REACTOME pathways annotation: shared terms (no NET-GE enrichment)

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Generic Transcription PathwayR-HSA-2124363.862MAMLD1, AR
Gene ExpressionR-HSA-741602.722MAMLD1, AR
Signal TransductionR-HSA-1625821.782MAMLD1, AR
GO - molecular function annotation: shared terms / NET-GE enrichment (no shared terms)
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
anatomical structure development (GO:0048856) 1.582MAMLD1, AR
regulation of nucleobase-containing compound metabolic process (GO:0019219) 1.432MAMLD1, AR
regulation of primary metabolic process (GO:0080090) 1.082MAMLD1, AR
regulation of metabolic process (GO:0019222) 1.022MAMLD1, AR
regulation of cellular biosynthetic process (GO:0031326) 1.382MAMLD1, AR
regulation of cellular metabolic process (GO:0031323) 1.072MAMLD1, AR
nucleobase-containing compound metabolic process (GO:0006139) 1.352MAMLD1, AR
nucleic acid metabolic process (GO:0090304) 1.462MAMLD1, AR
cellular biosynthetic process (GO:0044249) 1.372MAMLD1, AR
cellular nitrogen compound metabolic process (GO:0034641) 1.222MAMLD1, AR
nitrogen compound metabolic process (GO:0006807) 1.132MAMLD1, AR
cellular macromolecule biosynthetic process (GO:0034645) 1.662MAMLD1, AR
organic cyclic compound biosynthetic process (GO:1901362) 1.662MAMLD1, AR
regulation of biological process (GO:0050789) 0.452MAMLD1, AR
nucleic acid-templated transcription (GO:0097659) 1.912MAMLD1, AR
RNA biosynthetic process (GO:0032774) 1.842MAMLD1, AR
organic substance biosynthetic process (GO:1901576) 1.342MAMLD1, AR
cellular macromolecule metabolic process (GO:0044260) 0.932MAMLD1, AR
regulation of cellular macromolecule biosynthetic process (GO:2000112) 1.462MAMLD1, AR
organic substance metabolic process (GO:0071704) 0.632MAMLD1, AR
animal organ development (GO:0048513) 2.532MAMLD1, AR
biological regulation (GO:0065007) 0.392MAMLD1, AR
organic cyclic compound metabolic process (GO:1901360) 1.262MAMLD1, AR
regulation of gene expression (GO:0010468) 1.372MAMLD1, AR
heterocycle biosynthetic process (GO:0018130) 1.72MAMLD1, AR
developmental process (GO:0032502) 1.362MAMLD1, AR
reproductive structure development (GO:0048608) 4.082MAMLD1, AR
regulation of macromolecule biosynthetic process (GO:0010556) 1.432MAMLD1, AR
regulation of macromolecule metabolic process (GO:0060255) 1.082MAMLD1, AR
cellular aromatic compound metabolic process (GO:0006725) 1.32MAMLD1, AR
cellular process (GO:0009987) 0.262MAMLD1, AR
regulation of biosynthetic process (GO:0009889) 1.372MAMLD1, AR
regulation of nucleic acid-templated transcription (GO:1903506) 1.552MAMLD1, AR
regulation of cellular process (GO:0050794) 0.52MAMLD1, AR
single-organism developmental process (GO:0044767) 1.492MAMLD1, AR
developmental process involved in reproduction (GO:0003006) 3.362MAMLD1, AR
biosynthetic process (GO:0009058) 1.322MAMLD1, AR
macromolecule biosynthetic process (GO:0009059) 1.612MAMLD1, AR
regulation of nitrogen compound metabolic process (GO:0051171) 1.362MAMLD1, AR
metabolic process (GO:0008152) 0.582MAMLD1, AR
regulation of RNA biosynthetic process (GO:2001141) 1.552MAMLD1, AR
nucleobase-containing compound biosynthetic process (GO:0034654) 1.722MAMLD1, AR
heterocycle metabolic process (GO:0046483) 1.312MAMLD1, AR
RNA metabolic process (GO:0016070) 1.592MAMLD1, AR
primary metabolic process (GO:0044238) 0.692MAMLD1, AR
single-organism process (GO:0044699) 0.482MAMLD1, AR
single organism reproductive process (GO:0044702) 2.732MAMLD1, AR
cellular nitrogen compound biosynthetic process (GO:0044271) 1.592MAMLD1, AR
reproductive process (GO:0022414) 2.552MAMLD1, AR
regulation of RNA metabolic process (GO:0051252) 1.522MAMLD1, AR
cellular metabolic process (GO:0044237) 0.692MAMLD1, AR
macromolecule metabolic process (GO:0043170) 0.832MAMLD1, AR
regulation of transcription, DNA-templated (GO:0006355) 1.562MAMLD1, AR
regulation of transcription from RNA polymerase II promoter (GO:0006357) 2.242MAMLD1, AR
transcription, DNA-templated (GO:0006351) 1.912MAMLD1, AR
aromatic compound biosynthetic process (GO:0019438) 1.72MAMLD1, AR

NET-GE enrichment

Term New enriched termICP valueGenes
reproductive structure development (GO:0048608) -4.080.034MAMLD1, AR
GO - cellular component annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
intracellular membrane-bounded organelle (GO:0043231) 0.62MAMLD1, AR
nucleus (GO:0005634) 1.072MAMLD1, AR
cell part (GO:0044464) 0.112MAMLD1, AR
intracellular organelle (GO:0043229) 0.512MAMLD1, AR
intracellular part (GO:0044424) 0.282MAMLD1, AR
membrane-bounded organelle (GO:0043227) 0.472MAMLD1, AR
organelle (GO:0043226) 0.42MAMLD1, AR