Log in to save this analysis

Save This Analysis

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.
0 selected Clear
Disease A ⇵Disease B ⇵Shared genes ⇵Similarity score ⇵Overlap coefficient ⇵P-value ⇵FDR q-value ▲ Shared cluster
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome Seborrhea-like dermatitis with psoriasiform elements
2 genes
Show details
2 of 2 corroborated by 2+ sources
TBCD(5), ZNF750(5)
0.500 1.000 2.53e-8 1.93e-7 ✓ sig. Cluster 222 →
Brain atrophy Niemann-pick disease
2 genes
Show details
1 of 2 corroborated by 2+ sources
ACYP1(1), NPC2(8)
0.118 0.250 1.06e-5 5.25e-5 ✓ sig. —
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome encephalopathy, progressive, with amyotrophy and optic atrophy
1 gene
Show details
1 of 1 corroborated by 2+ sources
TBCE(3)
0.250 1.000 1.95e-4 5.32e-4 ✓ sig. Cluster 222 →
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome Sanjad-sakati syndrome
1 gene
Show details
1 of 1 corroborated by 2+ sources
TBCE(3)
0.250 1.000 1.95e-4 5.32e-4 ✓ sig. Cluster 222 →
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome Kenny caffey syndrome
1 gene
Show details
1 of 1 corroborated by 2+ sources
TBCE(5)
0.250 1.000 1.95e-4 5.32e-4 ✓ sig. Cluster 222 →
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome
1 gene
Show details
1 of 1 corroborated by 2+ sources
TBCE(3)
0.250 1.000 1.95e-4 5.32e-4 ✓ sig. Cluster 222 →
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome Thiel-behnke corneal dystrophy
1 gene
Show details
1 of 1 corroborated by 2+ sources
TBCD(5)
0.200 0.500 3.90e-4 8.64e-4 ✓ sig. —
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome Lipoyltransferase deficiency
1 gene
Show details
1 of 1 corroborated by 2+ sources
LIPT2(2)
0.200 0.500 3.90e-4 8.64e-4 ✓ sig. —
Brain atrophy optic atrophy 9
1 gene
Show details
1 of 1 corroborated by 2+ sources
ACO2(2)
0.091 1.000 6.49e-4 1.24e-3 ✓ sig. —
Brain atrophy Early onset alzheimers disease with behavioral disturbance
1 gene
Show details
LRRK2(1)
0.083 0.500 1.30e-3 2.06e-3 ✓ sig. —
Ap4-related intellectual disability and spastic paraplegia Brain atrophy
1 gene
Show details
1 of 1 corroborated by 2+ sources
AP4M1(2)
0.071 0.250 2.60e-3 3.51e-3 ✓ sig. —
Ap-4 deficiency syndrome Brain atrophy
1 gene
Show details
1 of 1 corroborated by 2+ sources
AP4M1(3)
0.071 0.250 2.60e-3 3.51e-3 ✓ sig. —
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome Ventricular fibrillation
1 gene
Show details
LIPT2(1)
0.026 0.500 4.67e-3 5.79e-3 ✓ sig. —
Brugada syndrome Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
1 gene
Show details
LIPT2(1)
0.015 0.500 8.17e-3 9.48e-3 ✓ sig. —
Cerebral amyloid angiopathy Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
1 gene
Show details
1 of 1 corroborated by 2+ sources
0.014 0.500 9.20e-3 1.05e-2 ✓ sig. —
neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy Non-specific syndromic intellectual disability
1 gene
Show details
1 of 1 corroborated by 2+ sources
TRAPPC4(3)
0.003 1.000 2.39e-2 2.57e-2 ✓ sig. Cluster 6 →
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome Mitochondrial disease
1 gene
Show details
1 of 1 corroborated by 2+ sources
LIPT2(3)
0.004 0.500 3.12e-2 3.31e-2 ✓ sig. —
Neurodevelopmental disorder neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy
1 gene
Show details
1 of 1 corroborated by 2+ sources
TRAPPC4(5)
0.001 1.000 6.09e-2 6.25e-2 Cluster 6 →
Neurodevelopmental disorder neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
1 gene
Show details
1 of 1 corroborated by 2+ sources
0.001 1.000 6.09e-2 6.25e-2 Cluster 6 →

Showing 19 of 19 matching pairs, sorted by significance (ascending). Click a column header to sort.