Disease table of FANCONI RENOTUBULAR SYNDROME OMIM ID: PS134600

Gene-disease associations table

GeneAssociated with FANCONI RENOTUBULAR SYNDROME inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
SLC34A1ClinVar, OMIMHGNC link5q35.32PS612286, PS134600
HNF4AClinVar, OMIM, HUMSAVARHGNC link20q13.123125850, PS134600, 125853
EHHADHClinVar, OMIM, HUMSAVARHGNC link3q27.21PS134600

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
Transcription Factors (TF) annotation from TRRUST
TFassociated to this disease# regulated genesRegulated genes# regulated genes associated with this diseaseRegulated genes associated with this disease
HNF4AYES43GPR39, TBP, CYP2C9, CEACAM1, KCNJ11, LDLR, SHBG, APOA1, UGT2B7, MMP7, CYP7A1, HNF1A, ABCC6, SERPINC1, GH1, PCSK9, CYP2B6, NR1I2, CYP2D6, ABCG8, PPARA, APOB, ABCG5, CDKN1A, AFP, CYP27A1, ACMSD, SLC26A3, RNASE2, SLC22A6, UGT1A7, AKR1C4, GCK, NPC1L1, C1QTNF5, APOA2, APOC3, ACAT2, CYP2C8, FABP2, GFER, MYC, LIPC0
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
HNF4AYES10SP1, NR1I3, SREBF2, SOX17, TP53, HHEX, RARA, NR0B1, HMGA2, RXRA0
Interactions from BIOGRID - physical
Interactions from BIOGRID - genetic
Interactions from STRING
Gene1Gene2Direct InteractionInteraction modeNumber of shared interactorsShared genes in interaction
HNF4AEHHADHNo-7SP1, PPARGC1A, CREBBP, MED1, JUN, APOA1, PPARA

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from CORUM
Interactions from CENSUS
Interactions from PDB
Interactions from manually curated literature
KEGG pathways annotation: NET-GE enrichment (no shared terms)

NET-GE enrichment

Term New enriched termICP valueGenes
Lipid metabolismNEW4.160.044EHHADH, HNF4A, SLC34A1
PPAR signaling pathway (hsa03320) NEW6.560.04HNF4A, EHHADH
REACTOME pathways annotation: shared terms / NET-GE enrichment (no shared terms)
GO - molecular function annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
binding (GO:0005488) 0.183HNF4A, EHHADH, SLC34A1
protein binding (GO:0005515) 0.463EHHADH, HNF4A, SLC34A1
catalytic activity (GO:0003824) 1.052HNF4A, EHHADH
protein dimerization activity (GO:0046983) 2.722HNF4A, SLC34A1
receptor binding (GO:0005102) 2.432EHHADH, HNF4A
identical protein binding (GO:0042802) 2.632HNF4A, SLC34A1
protein homodimerization activity (GO:0042803) 3.162HNF4A, SLC34A1
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
primary metabolic process (GO:0044238) 0.693HNF4A, EHHADH, SLC34A1
single-organism metabolic process (GO:0044710) 1.633HNF4A, EHHADH, SLC34A1
organic acid metabolic process (GO:0006082) 3.013HNF4A, EHHADH, SLC34A1
cellular macromolecule metabolic process (GO:0044260) 0.933EHHADH, HNF4A, SLC34A1
cellular process (GO:0009987) 0.263EHHADH, HNF4A, SLC34A1
carboxylic acid metabolic process (GO:0019752) 3.123HNF4A, EHHADH, SLC34A1
cellular metabolic process (GO:0044237) 0.693HNF4A, EHHADH, SLC34A1
macromolecule metabolic process (GO:0043170) 0.833EHHADH, HNF4A, SLC34A1
organic substance metabolic process (GO:0071704) 0.633HNF4A, EHHADH, SLC34A1
single-organism cellular process (GO:0044763) 0.653EHHADH, HNF4A, SLC34A1
small molecule metabolic process (GO:0044281) 2.383HNF4A, EHHADH, SLC34A1
metabolic process (GO:0008152) 0.583EHHADH, HNF4A, SLC34A1
oxoacid metabolic process (GO:0043436) 3.123EHHADH, HNF4A, SLC34A1
single-organism process (GO:0044699) 0.483EHHADH, HNF4A, SLC34A1
regulation of transport (GO:0051049) 2.242HNF4A, SLC34A1
homeostatic process (GO:0042592) 2.612HNF4A, SLC34A1
cellular nitrogen compound metabolic process (GO:0034641) 1.222HNF4A, SLC34A1
nitrogen compound metabolic process (GO:0006807) 1.132HNF4A, SLC34A1
anatomical structure morphogenesis (GO:0009653) 2.532HNF4A, SLC34A1
regulation of biological process (GO:0050789) 0.452HNF4A, SLC34A1
organic cyclic compound metabolic process (GO:1901360) 1.262HNF4A, SLC34A1
response to endogenous stimulus (GO:0009719) 2.792HNF4A, SLC34A1
cellular protein metabolic process (GO:0044267) 1.632EHHADH, SLC34A1
response to nitrogen compound (GO:1901698) 3.122HNF4A, SLC34A1
cellular component organization or biogenesis (GO:0071840) 1.222HNF4A, SLC34A1
cellular component organization (GO:0016043) 1.242HNF4A, SLC34A1
biological regulation (GO:0065007) 0.392HNF4A, SLC34A1
response to organic cyclic compound (GO:0014070) 3.072HNF4A, SLC34A1
positive regulation of biological process (GO:0048518) 1.22HNF4A, SLC34A1
regulation of biological quality (GO:0065008) 1.682HNF4A, SLC34A1
developmental process (GO:0032502) 1.362HNF4A, SLC34A1
multicellular organismal process (GO:0032501) 1.452HNF4A, SLC34A1
lipid metabolic process (GO:0006629) 2.682EHHADH, HNF4A
cellular aromatic compound metabolic process (GO:0006725) 1.32HNF4A, SLC34A1
single-organism developmental process (GO:0044767) 1.492HNF4A, SLC34A1
response to chemical (GO:0042221) 1.982HNF4A, SLC34A1
regulation of localization (GO:0032879) 1.942HNF4A, SLC34A1
response to organic substance (GO:0010033) 2.22HNF4A, SLC34A1
heterocycle metabolic process (GO:0046483) 1.312HNF4A, SLC34A1
response to oxygen-containing compound (GO:1901700) 2.572HNF4A, SLC34A1
organonitrogen compound metabolic process (GO:1901564) 2.322HNF4A, SLC34A1
single-multicellular organism process (GO:0044707) 1.782HNF4A, SLC34A1
protein metabolic process (GO:0019538) 1.452EHHADH, SLC34A1
response to stimulus (GO:0050896) 1.222HNF4A, SLC34A1
response to drug (GO:0042493) 3.712HNF4A, SLC34A1
chemical homeostasis (GO:0048878) 2.972HNF4A, SLC34A1
response to organonitrogen compound (GO:0010243) 3.22HNF4A, SLC34A1

NET-GE enrichment

Term New enriched termICP valueGenes
carboxylic acid metabolic process (GO:0019752) -3.120.034HNF4A, EHHADH, SLC34A1
lipid catabolic process (GO:0016042) NEW4.210.014EHHADH, HNF4A, SLC34A1
small molecule catabolic process (GO:0044282) NEW3.990.023HNF4A, EHHADH, SLC34A1
oxoacid metabolic process (GO:0043436) -3.120.049EHHADH, HNF4A, SLC34A1
anion homeostasis (GO:0055081) NEW6.680.042HNF4A, SLC34A1
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) 0.63HNF4A, EHHADH, SLC34A1
cell part (GO:0044464) 0.113EHHADH, HNF4A, SLC34A1
intracellular organelle (GO:0043229) 0.513HNF4A, EHHADH, SLC34A1
intracellular part (GO:0044424) 0.283EHHADH, HNF4A, SLC34A1
membrane-bounded organelle (GO:0043227) 0.473HNF4A, EHHADH, SLC34A1
organelle (GO:0043226) 0.43HNF4A, EHHADH, SLC34A1
cytoplasm (GO:0005737) 1.012HNF4A, SLC34A1
intracellular organelle part (GO:0044446) 0.812HNF4A, EHHADH
cytoplasmic part (GO:0044444) 0.822EHHADH, SLC34A1
organelle part (GO:0044422) 0.792EHHADH, HNF4A