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What do these columns mean?
Shared genes
Curated genes linked to both diseases (disease_gdp). The line below it shows how many of those are "corroborated" -- backed by 2+ independent database sources combined across both diseases, not resting on a single source's say-so.
Similarity score
Jaccard-based: shared genes ÷ the union of both diseases' entire gene sets, with a small boost from users who bookmarked both diseases. Treats both diseases symmetrically.
Overlap coefficient
Shared genes ÷ the smaller disease's own total gene count. Complements the similarity score above for asymmetric pairs -- e.g. a rare disease almost entirely "contained" in a common disease's much larger gene set scores low on Jaccard but high here.
P-value / FDR q-value
Is this gene overlap more than chance? An upper-tail hypergeometric test, Benjamini-Hochberg corrected across every tested pair (the q-value is the one that accounts for testing thousands of pairs at once -- prefer it over the raw p-value).
Shared cluster
Links to a multi-disease cluster (see Disease Clusters) if both diseases of this pair were independently grouped together by that separate analysis.
ⓘ Shows only pairs whose gene overlap is too large to be down to chance (FDR q-value below 0.05). These are the rows marked ✓ sig. in the table. ⓘ Shows only pairs where both diseases also belong to the same group on the Disease Clusters page. Two separate analyses agree they're related, so the link is stronger. These are the rows with a link in the Shared cluster column.
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Disease A ⇵Disease B ⇵Shared genes ⇵Similarity score ⇵Overlap coefficient ⇵P-value ⇵FDR q-value ▲ Shared cluster
Generalized lipodystrophy spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PCYT1A(2)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. Cluster 71 →
Testicular neoplasms xeroderma pigmentosum group F
1 gene
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1 of 1 corroborated by 2+ sources
ERCC4(2)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. —
46,xy sex reversal Testicular regression syndrome
1 gene
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1 of 1 corroborated by 2+ sources
DHX37(2)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. Cluster 38 →
Pemphigus vulgaris Thiopurine immunosuppressant-induced pancreatitis
1 gene
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0.125 1.000 4.55e-4 9.73e-4 ✓ sig. Cluster 1 →
Interrupted aortic arch Thyroid agenesis
1 gene
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NKX2-5(1)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. —
tooth agenesis, selective, 1 Wolf-hirschhorn syndrome
1 gene
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1 of 1 corroborated by 2+ sources
MSX1(3)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. Cluster 159 →
Tooth and nail syndrome Wolf-hirschhorn syndrome
1 gene
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1 of 1 corroborated by 2+ sources
MSX1(4)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. Cluster 159 →
Torsion dystonia Whispering dysphonia
1 gene
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1 of 1 corroborated by 2+ sources
TUBB4A(4)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. —
Astigmatism Trichiasis
1 gene
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MCM7(1)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. —
Carney complex Trismus-pseudocamptodactyly syndrome
1 gene
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1 of 1 corroborated by 2+ sources
MYH8(6)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. —
Torsion dystonia TUBB4A-related neurologic disorder
1 gene
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1 of 1 corroborated by 2+ sources
TUBB4A(3)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. —
Branchiootorenal syndrome Usher syndrome type 3
1 gene
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1 of 1 corroborated by 2+ sources
CLRN1(2)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. Cluster 145 →
Peptic esophagitis Vitamin d dependent rickets
1 gene
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1 of 1 corroborated by 2+ sources
VDR(5)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. Cluster 396 →
Klippel-trenaunay syndrome Waardenburg anophthalmia syndrome
1 gene
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SMOC1(1)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. —
Witkop syndrome Wolf-hirschhorn syndrome
1 gene
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1 of 1 corroborated by 2+ sources
MSX1(3)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. Cluster 159 →
46,xy sex reversal X-linked adrenal hypoplasia congenita
1 gene
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1 of 1 corroborated by 2+ sources
NR0B1(3)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. —
Thyroid agenesis X-linked central congenital hypothyroidism with late-onset testicular enlargement
1 gene
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1 of 1 corroborated by 2+ sources
IGSF1(4)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. Cluster 88 →
Hallervorden spatz syndrome X-linked cerebral cerebellar coloboma syndrome
1 gene
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WDR45(1)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. —
Hyper-igm immunodeficiency syndrome X-linked hyper-igm syndrome
1 gene
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1 of 1 corroborated by 2+ sources
CD40LG(6)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. Cluster 131 →
Hallervorden spatz syndrome X-linked optic atrophy
1 gene
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WDR45(1)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. —
Developmental delay with autism spectrum disorder Skin hair eye pigmentation variation
1 gene
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1 of 1 corroborated by 2+ sources
HERC2(4)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. —
Diabetes mellitus ketosis prone Ventricular outflow obstruction
1 gene
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1 of 1 corroborated by 2+ sources
INS(2)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. —
autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency Diabetes mellitus ketosis prone
1 gene
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1 of 1 corroborated by 2+ sources
CTLA4(2)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. —
dilated cardiomyopathy 1C Distal muscular dystrophy
1 gene
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1 of 1 corroborated by 2+ sources
LDB3(2)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. —
Disabling pansclerotic morphea of childhood Uveomeningoencephalitic syndrome
1 gene
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1 of 1 corroborated by 2+ sources
STAT4(3)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. Cluster 1 →

Showing 25 of 20813 pairs, sorted by significance (ascending). Click a column header to sort.