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Cluster 544

5 diseases · 10 shared-gene connections

5 Diseases

3 Unique genes

0.400 Avg. similarity score

Amyotrophic lateral sclerosis, susceptibility to, 25 Most-connected disease (4 links)

Significant edges only (q < 0.05) Spacing Colour by

Disease 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.

Amyotrophic lateral sclerosis, susceptibility to, 25 Genetic neurodegenerative disease Inherited neurodegenerative disorder Severe neonatal myoclonus Spastic paraplegia 10, autosomal dominant

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

Disease ⇵	Connections in cluster ⇵	Significant partners ⇵	Curated genes ⇵
Amyotrophic lateral sclerosis, susceptibility to, 25	4	4	1
Genetic neurodegenerative disease	4	4	3
Inherited neurodegenerative disorder	4	4	1
Severe neonatal myoclonus	4	4	1
Spastic paraplegia 10, autosomal dominant	4	4	1

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

Gene ⇵	Member diseases ⇵	Linked diseases
KIF5A	5 / 5	Amyotrophic lateral sclerosis, susceptibility to, 25, Genetic neurodegenerative disease, Inherited neurodegenerative disorder, Severe neonatal myoclonus and 1 more

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 ⇵
Transport of vitamins, nucleosides, and related molecules SLC5A6	Reactome	1 / 3	1,334×	7.49e-4	9.09e-3 ✓ sig.
Vitamin B5 (pantothenate) metabolism SLC5A6	Reactome	1 / 9	445×	2.25e-3	2.07e-2 ✓ sig.
RHO GTPases activate KTN1 KIF5A	Reactome	1 / 11	364×	2.75e-3	2.39e-2 ✓ sig.
Biotin transport and metabolism SLC5A6	Reactome	1 / 11	364×	2.75e-3	2.39e-2 ✓ sig.
Vitamin digestion and absorption SLC5A6	KEGG	1 / 26	154×	6.48e-3	4.32e-2 ✓ sig.
Kinesins KIF5A	Reactome	1 / 59	67.9×	1.47e-2	7.17e-2
Non-small cell lung cancer KIF5A	KEGG	1 / 73	54.8×	1.81e-2	8.11e-2
COPI-dependent Golgi-to-ER retrograde traffic KIF5A	Reactome	1 / 99	40.4×	2.45e-2	9.64e-2
MHC class II antigen presentation KIF5A	Reactome	1 / 123	32.5×	3.04e-2	1.09e-1
Dopaminergic synapse KIF5A	KEGG	1 / 132	30.3×	3.26e-2	1.14e-1
Motor proteins KIF5A	KEGG	1 / 194	20.6×	4.77e-2	1.41e-1
Salmonella infection KIF5A	KEGG	1 / 248	16.1×	6.07e-2	1.62e-1
Endocytosis KIF5A	KEGG	1 / 250	16.0×	6.12e-2	1.62e-1
Parkinson disease KIF5A	KEGG	1 / 268	14.9×	6.55e-2	1.69e-1
Prion disease KIF5A	KEGG	1 / 275	14.6×	6.71e-2	1.71e-1

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

GO term ⇵	GO ID ⇵	Overlap genes ⇵	Fold enrichment ⇵	P-value ⇵	FDR q-value ⇵
pantothenate transmembrane transport SLC5A6	GO:0015887	1 / 1	6,229×	1.61e-4	4.34e-3 ✓ sig.
inorganic ion transmembrane transport SLC5A6	GO:0098660	1 / 2	3,115×	3.21e-4	7.04e-3 ✓ sig.
iodide transmembrane transport SLC5A6	GO:1904200	1 / 2	3,115×	3.21e-4	7.04e-3 ✓ sig.
biotin import across plasma membrane SLC5A6	GO:1905135	1 / 2	3,115×	3.21e-4	7.04e-3 ✓ sig.
biotin transport SLC5A6	GO:0015878	1 / 3	2,076×	4.82e-4	9.24e-3 ✓ sig.
biotin metabolic process SLC5A6	GO:0006768	1 / 4	1,557×	6.42e-4	1.11e-2 ✓ sig.
retrograde neuronal dense core vesicle transport KIF5A	GO:1990049	1 / 5	1,246×	8.03e-4	1.28e-2 ✓ sig.
anterograde dendritic transport of neurotransmitter receptor complex KIF5A	GO:0098971	1 / 7	890×	1.12e-3	1.55e-2 ✓ sig.
anterograde axonal protein transport KIF5A	GO:0099641	1 / 8	779×	1.28e-3	1.67e-2 ✓ sig.
regulation of lysosome size BORCS8	GO:0062196	1 / 9	692×	1.44e-3	1.79e-2 ✓ sig.
regulation of endosome size BORCS8	GO:0051036	1 / 11	566×	1.76e-3	1.99e-2 ✓ sig.
organelle transport along microtubule BORCS8	GO:0072384	1 / 14	445×	2.25e-3	2.24e-2 ✓ sig.
synaptic vesicle transport KIF5A	GO:0048489	1 / 20	311×	3.21e-3	2.69e-2 ✓ sig.
sodium ion import across plasma membrane SLC5A6	GO:0098719	1 / 28	222×	4.49e-3	3.17e-2 ✓ sig.
lysosome localization BORCS8	GO:0032418	1 / 32	195×	5.13e-3	3.37e-2 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵	Disease B ⇵	Similarity score ⇵	Shared genes ⇵	P-value ⇵	FDR q-value ⇵
Amyotrophic lateral sclerosis, susceptibility to, 25	Inherited neurodegenerative disorder	0.500	1	6.46e-5	1.98e-4 ✓ sig.
Amyotrophic lateral sclerosis, susceptibility to, 25	Severe neonatal myoclonus	0.500	1	6.46e-5	1.98e-4 ✓ sig.
Amyotrophic lateral sclerosis, susceptibility to, 25	Spastic paraplegia 10, autosomal dominant	0.500	1	6.46e-5	1.98e-4 ✓ sig.
Inherited neurodegenerative disorder	Severe neonatal myoclonus	0.500	1	6.46e-5	1.98e-4 ✓ sig.
Inherited neurodegenerative disorder	Spastic paraplegia 10, autosomal dominant	0.500	1	6.46e-5	1.98e-4 ✓ sig.
Severe neonatal myoclonus	Spastic paraplegia 10, autosomal dominant	0.500	1	6.46e-5	1.98e-4 ✓ sig.
Amyotrophic lateral sclerosis, susceptibility to, 25	Genetic neurodegenerative disease	0.250	1	1.94e-4	4.41e-4 ✓ sig.
Genetic neurodegenerative disease	Inherited neurodegenerative disorder	0.250	1	1.94e-4	4.41e-4 ✓ sig.
Genetic neurodegenerative disease	Severe neonatal myoclonus	0.250	1	1.94e-4	4.41e-4 ✓ sig.
Genetic neurodegenerative disease	Spastic paraplegia 10, autosomal dominant	0.250	1	1.94e-4	4.41e-4 ✓ sig.

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