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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
Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay Corpus callosum agenesis with facial anomalies and robin sequence
1 gene
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DDX3X(1)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay Developmental delay with or without epilepsy
1 gene
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1 of 1 corroborated by 2+ sources
SPTAN1(3)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
X-linked complex neurodevelopmental disorder X-linked epilepsy-learning disabilities-behavior disorders syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SYN1(3)
0.028 1.000 2.27e-3 3.19e-3 ✓ sig. —
X-linked complex neurodevelopmental disorder X-linked epilepsy with variable learning disabilities and behavior disorders
1 gene
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1 of 1 corroborated by 2+ sources
SYN1(5)
0.028 1.000 2.27e-3 3.19e-3 ✓ sig. —
X-linked complex neurodevelopmental disorder X-linked epilepsy with learning disability and behavior disorder syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SYN1(2)
0.028 1.000 2.27e-3 3.19e-3 ✓ sig. —
Benign prostatic hyperplasia neurodevelopmental disorder with hypotonia, epilepsy, and absent speech
1 gene
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1 of 1 corroborated by 2+ sources
UNC13A(2)
0.028 1.000 2.27e-3 3.19e-3 ✓ sig. —
Hyperekplexia epilepsy syndrome X-linked complex neurodevelopmental disorder
1 gene
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1 of 1 corroborated by 2+ sources
ARHGEF9(4)
0.028 1.000 2.27e-3 3.19e-3 ✓ sig. Cluster 115 →
Female restricted epilepsy with intellectual disability X-linked complex neurodevelopmental disorder
1 gene
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1 of 1 corroborated by 2+ sources
PCDH19(3)
0.028 1.000 2.27e-3 3.19e-3 ✓ sig. —
Female restricted epilepsy with intellectual disability Strabismus
1 gene
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1 of 1 corroborated by 2+ sources
PCDH19(2)
0.029 1.000 2.21e-3 3.11e-3 ✓ sig. —
Parkinson-dementia syndrome Temporal lobe epilepsy
1 gene
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1 of 1 corroborated by 2+ sources
MAPT(2)
0.029 1.000 2.14e-3 3.04e-3 ✓ sig. —
Benign mesial temporal lobe epilepsy Temporal lobe epilepsy
1 gene
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1 of 1 corroborated by 2+ sources
CPA6(3)
0.029 1.000 2.14e-3 3.04e-3 ✓ sig. —
Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome Hyperkinesia
1 gene
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1 of 1 corroborated by 2+ sources
AFG3L2(2)
0.029 1.000 2.14e-3 3.04e-3 ✓ sig. —
Chondromyxoid fibroma Temporal lobe epilepsy
1 gene
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1 of 1 corroborated by 2+ sources
GRM1(3)
0.029 1.000 2.14e-3 3.04e-3 ✓ sig. —
Congenital contracture of limbs and face, hypotonia, developmental delay syndrome Temporal lobe epilepsy
1 gene
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1 of 1 corroborated by 2+ sources
NALCN(4)
0.029 1.000 2.14e-3 3.04e-3 ✓ sig. —
Congenital limbs-face contractures-hypotonia-developmental delay syndrome Temporal lobe epilepsy
1 gene
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1 of 1 corroborated by 2+ sources
NALCN(2)
0.029 1.000 2.14e-3 3.04e-3 ✓ sig. —
Cortical dysplasia-focal epilepsy syndrome Hyperkinesia
1 gene
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1 of 1 corroborated by 2+ sources
CNTNAP2(4)
0.029 1.000 2.14e-3 3.04e-3 ✓ sig. —
Delpire-mcneill syndrome Temporal lobe epilepsy
1 gene
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1 of 1 corroborated by 2+ sources
SLC12A2(4)
0.029 1.000 2.14e-3 3.04e-3 ✓ sig. —
Developmental delay with or without epilepsy Jeune thoracic dystrophy
1 gene
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1 of 1 corroborated by 2+ sources
SPTAN1(3)
0.029 1.000 2.14e-3 3.04e-3 ✓ sig. Cluster 22 →
Dicarboxylic aminoaciduria Temporal lobe epilepsy
1 gene
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1 of 1 corroborated by 2+ sources
SLC1A1(7)
0.029 1.000 2.14e-3 3.04e-3 ✓ sig. —
Epilepsy with auditory features Familial focal epilepsy with variable foci
1 gene
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1 of 1 corroborated by 2+ sources
DEPDC5(4)
0.083 0.250 2.08e-3 2.97e-3 ✓ sig. —
Developmental delay with or without epilepsy Distal spinal muscular atrophy
1 gene
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1 of 1 corroborated by 2+ sources
SPTAN1(3)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
Focal onset epileptic seizure Frontal lobe epilepsy
1 gene
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1 of 1 corroborated by 2+ sources
CHRNB2(2)
0.091 0.200 1.95e-3 2.83e-3 ✓ sig. Cluster 273 →
Early onset vitamin b6 dependent epilepsy Myelomonocytic leukemia
1 gene
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1 of 1 corroborated by 2+ sources
CBL(5)
0.077 0.333 1.95e-3 2.83e-3 ✓ sig. —
Epilepsy due to perinatal stroke West syndrome
1 gene
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ST3GAL3(1)
0.032 1.000 1.95e-3 2.83e-3 ✓ sig. Cluster 328 →
Developmental delay with or without epilepsy West syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SPTAN1(3)
0.032 1.000 1.95e-3 2.83e-3 ✓ sig. —

Showing 25 of 420 matching pairs, sorted by significance (descending). Click a column header to sort.