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Cluster 177

8 diseases · 11 shared-gene connections

8 Diseases

15 Unique genes

0.218 Avg. similarity score

Avoidant restrictive food intake disorder Most-connected disease (4 links)

Significant edges only (q < 0.05) Spacing Colour by

Disease Searched: Cavitary optic disc anomalies Pinned (dragged)

Node size = connections within this cluster · edge thickness = similarity strength · hover an edge for its details · click a node to select it and show its pairs below (double-click or Ctrl/⌘-click opens the disease page) · drag a node to pin it in place · scroll/pinch to zoom.

Cavitary optic disc anomalies Avoidant restrictive food intake disorder Cavitary optic disk anomaly Dysbetalipoproteinemia Sleep disorder Bile duct calculus

Member diseases (most connected first ‐ the cluster's core)

Disease ⇵	Connections in cluster ⇵	Significant partners ⇵	Curated genes ⇵
Avoidant restrictive food intake disorder	4	4	1
Cavitary optic disk anomaly	4	4	2
Dysbetalipoproteinemia	4	4	1
Sleep disorder	4	4	11
Bile duct calculus	3	3	4
Cavitary optic disc anomalies	1	1	1
Delayed sleep phase syndrome	1	1	1
leukodystrophy, hypomyelinating, 16	1	1	1

Top shared genes (genes linked to 2+ member diseases)

Gene ⇵	Member diseases ⇵	Linked diseases
APOE	5 / 8	Avoidant restrictive food intake disorder, Bile duct calculus, Cavitary optic disk anomaly, Dysbetalipoproteinemia and 1 more
CRY1	2 / 8	Delayed sleep phase syndrome, Sleep disorder
MMP19	2 / 8	Cavitary optic disc anomalies, Cavitary optic disk anomaly
TMEM106B	2 / 8	leukodystrophy, hypomyelinating, 16, Sleep disorder

What do these columns mean?

Connections in cluster: How many other members this disease has a shared-gene link to (the node size in the network above). The most-connected diseases are the cluster's core.
Significant partners: How many of those links are statistically significant (FDR q < 0.05).
Curated genes: Distinct curated genes linked to that disease in GeDiPNet.
Member diseases (Top shared genes): How many of this cluster's diseases are linked to the gene, out of the cluster's total. Genes shared by many members are the most direct explanation of why they group together.
Overlap genes (x / y): x = genes shared between this cluster and the pathway/GO term; y = that pathway/GO term's total gene count. A higher x relative to y (and to the cluster's own size) means a tighter biological match.
Cluster gene count: Total distinct genes across every disease in this cluster -- the "n" used in the significance test below.
Fold enrichment: Observed overlap divided by the overlap expected by chance, given the cluster's gene count, the pathway/term's size and the gene universe tested. 5× means five times more shared genes than random. Tells strong hits apart when q-values are all vanishingly small.
P-value / FDR q-value: Is this pathway/GO term's overlap with the cluster more than chance? Upper-tail hypergeometric test, Benjamini-Hochberg corrected across every tested pathway/term (prefer the q-value -- it accounts for testing many at once).
Shared genes (Pairs within this cluster): Number of curated genes the two diseases in that row have in common.
Similarity score (Pairs within this cluster): Jaccard-based gene overlap between the two specific diseases in that row -- same metric as the main Shared-Gene Disease Pairs page.

Enriched Pathways (why this cluster is grouped, biologically)

Pathway ⇵	Source ⇵	Overlap genes ⇵	Fold enrichment ⇵	P-value ⇵	FDR q-value ⇵
Circadian rhythm CRY1, BHLHE40, NFIL3, RORC	KEGG	4 / 34	94.2×	7.15e-8	5.20e-6 ✓ sig.
Defective CYP17A1 causes Adrenal hyperplasia 5 (AH5) CYP17A1	Reactome	1 / 1	801×	1.25e-3	1.66e-2 ✓ sig.
Defective UGT1A1 causes hyperbilirubinemia UGT1A1	Reactome	1 / 1	801×	1.25e-3	1.66e-2 ✓ sig.
Steroid hormone biosynthesis CYP17A1, UGT1A1	KEGG	2 / 63	25.4×	2.72e-3	2.95e-2 ✓ sig.
Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors APOE	Reactome	1 / 3	267×	3.74e-3	3.69e-2 ✓ sig.
Serotonin and melatonin biosynthesis AANAT	Reactome	1 / 5	160×	6.23e-3	5.25e-2
Chylomicron clearance APOE	Reactome	1 / 5	160×	6.23e-3	5.25e-2
Zinc influx into cells by the SLC39 gene family SLC39A8	Reactome	1 / 8	100×	9.95e-3	7.05e-2
Chylomicron remodeling APOE	Reactome	1 / 9	89.0×	1.12e-2	7.60e-2
Chylomicron assembly APOE	Reactome	1 / 9	89.0×	1.12e-2	7.60e-2
HDL remodeling APOE	Reactome	1 / 10	80.1×	1.24e-2	8.10e-2
Glucocorticoid biosynthesis CYP17A1	Reactome	1 / 10	80.1×	1.24e-2	8.10e-2
Androgen biosynthesis CYP17A1	Reactome	1 / 11	72.8×	1.37e-2	8.55e-2
Scavenging by Class A Receptors APOE	Reactome	1 / 11	72.8×	1.37e-2	8.55e-2
Aspartate and asparagine metabolism ASPG	Reactome	1 / 12	66.7×	1.49e-2	9.00e-2

Enriched GO Terms (Biological Process, a second line of biological evidence)

GO term ⇵	GO ID ⇵	Overlap genes ⇵	Fold enrichment ⇵	P-value ⇵	FDR q-value ⇵
circadian rhythm CRY1, AANAT, BHLHE40, NFIL3, RORC	GO:0007623	5 / 82	76.0×	4.17e-9	7.90e-7 ✓ sig.
rhythmic process CRY1, AANAT, BHLHE40, NFIL3, RORC	GO:0048511	5 / 148	42.1×	8.20e-8	1.04e-5 ✓ sig.
circadian regulation of gene expression CRY1, BHLHE40, RORC	GO:0032922	3 / 67	55.8×	1.94e-5	9.08e-4 ✓ sig.
steroid metabolic process APOE, CYP17A1, UGT1A1	GO:0008202	3 / 135	27.7×	1.57e-4	4.38e-3 ✓ sig.
entrainment of circadian clock by photoperiod CRY1, BHLHE40	GO:0043153	2 / 24	104×	1.64e-4	4.52e-3 ✓ sig.
response to light stimulus CRY1, AANAT	GO:0009416	2 / 28	89.0×	2.25e-4	5.65e-3 ✓ sig.
response to cAMP MMP19, AANAT	GO:0051591	2 / 34	73.3×	3.32e-4	7.44e-3 ✓ sig.
long-term memory APOE, BTBD9	GO:0007616	2 / 37	67.3×	3.94e-4	8.39e-3 ✓ sig.
lipid transport involved in lipid storage APOE	GO:0010877	1 / 1	1,246×	8.03e-4	1.35e-2 ✓ sig.
maintenance of location in cell APOE	GO:0051651	1 / 1	1,246×	8.03e-4	1.35e-2 ✓ sig.
intermediate-density lipoprotein particle clearance APOE	GO:0071831	1 / 1	1,246×	8.03e-4	1.35e-2 ✓ sig.
negative regulation of postsynaptic membrane organization APOE	GO:1901627	1 / 1	1,246×	8.03e-4	1.35e-2 ✓ sig.
negative regulation of phospholipid efflux APOE	GO:1902999	1 / 1	1,246×	8.03e-4	1.35e-2 ✓ sig.
negative regulation of lipid transport across blood-brain barrier APOE	GO:1903001	1 / 1	1,246×	8.03e-4	1.35e-2 ✓ sig.
positive regulation of lipid transport across blood-brain barrier APOE	GO:1903002	1 / 1	1,246×	8.03e-4	1.35e-2 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵	Disease B ⇵	Similarity score ⇵	Shared genes ⇵	P-value ⇵	FDR q-value ⇵
Avoidant restrictive food intake disorder	Dysbetalipoproteinemia	0.500	1	6.49e-5	2.33e-4 ✓ sig.
Avoidant restrictive food intake disorder	Cavitary optic disk anomaly	0.333	1	1.30e-4	3.93e-4 ✓ sig.
Cavitary optic disc anomalies	Cavitary optic disk anomaly	0.333	1	1.30e-4	3.93e-4 ✓ sig.
Cavitary optic disk anomaly	Dysbetalipoproteinemia	0.333	1	1.30e-4	3.93e-4 ✓ sig.
Avoidant restrictive food intake disorder	Bile duct calculus	0.200	1	2.60e-4	6.51e-4 ✓ sig.
Bile duct calculus	Dysbetalipoproteinemia	0.200	1	2.60e-4	6.51e-4 ✓ sig.
Bile duct calculus	Cavitary optic disk anomaly	0.167	1	5.19e-4	1.06e-3 ✓ sig.
Avoidant restrictive food intake disorder	Sleep disorder	0.083	1	7.14e-4	1.34e-3 ✓ sig.
Delayed sleep phase syndrome	Sleep disorder	0.083	1	7.14e-4	1.34e-3 ✓ sig.
Dysbetalipoproteinemia	Sleep disorder	0.083	1	7.14e-4	1.34e-3 ✓ sig.
leukodystrophy, hypomyelinating, 16	Sleep disorder	0.083	1	7.14e-4	1.34e-3 ✓ sig.

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