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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
Brachydactyly and mild neurodevelopmental delay Hoxha-aliu syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ERI1(4)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. —
Brachydactyly and mild neurodevelopmental delay Severe growth restriction and skeletal dysplasia
1 gene
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ERI1(1)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. —
Severe neurodevelopmental delay Spastic paraplegia 92, autosomal recessive
1 gene
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FICD(1)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. —
Intellectual developmental disorder dysmorphic macrocephaly Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin
1 gene
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1 of 1 corroborated by 2+ sources
ZBTB7A(2)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. —
Developmental disorder with macrocephaly, obstructive sleep apnea, and persistent fetal hemoglobin Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin
1 gene
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ZBTB7A(1)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. —
Intellectual developmental disorder dysmorphic cardiac Neurodevelopmental delay, congenital heart defects, and distinct facial dysmorphism
1 gene
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1 of 1 corroborated by 2+ sources
TMEM94(5)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. —
Severe neurodevelopmental delay Skeletal abnormalities
1 gene
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FICD(1)
0.200 1.000 2.58e-4 5.38e-4 ✓ sig. —
Basilicata-akhtar syndrome Neurodevelopmental delay
1 gene
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1 of 1 corroborated by 2+ sources
MSL3(2)
0.143 1.000 3.87e-4 7.33e-4 ✓ sig. —
Mysm1 deficiency Neurodevelopmental delay
1 gene
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MYSM1(1)
0.143 1.000 3.87e-4 7.33e-4 ✓ sig. —
Neurodevelopmental delay Retinal dystrophy, juvenile cataracts, and short stature syndrome
1 gene
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RDH11(1)
0.143 1.000 3.87e-4 7.33e-4 ✓ sig. —
Hygroma Neurodevelopmental delay
1 gene
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WDR91(1)
0.143 1.000 3.87e-4 7.33e-4 ✓ sig. —
Gingival overgrowth Neurodevelopmental delay
1 gene
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KCNK4(1)
0.143 1.000 3.87e-4 7.33e-4 ✓ sig. —
Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome Neurodevelopmental delay
1 gene
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KCNK4(1)
0.143 1.000 3.87e-4 7.33e-4 ✓ sig. —
Congenital progressive bone marrow failure-b-cell immunodeficiency-skeletal dysplasia syndrome Neurodevelopmental delay
1 gene
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1 of 1 corroborated by 2+ sources
MYSM1(3)
0.143 1.000 3.87e-4 7.33e-4 ✓ sig. —
Abnormal brain morphology Neurodevelopmental delay
1 gene
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WDR91(1)
0.125 0.500 7.75e-4 1.25e-3 ✓ sig. —
Neonatal diabetes mellitus Severe neurodevelopmental delay
1 gene
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FICD(1)
0.050 1.000 1.23e-3 1.81e-3 ✓ sig. —
Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin Upper respiratory tract disorder
1 gene
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1 of 1 corroborated by 2+ sources
ZBTB7A(2)
0.048 1.000 1.29e-3 1.89e-3 ✓ sig. —
Erythematosquamous dermatosis Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin
1 gene
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1 of 1 corroborated by 2+ sources
ZBTB7A(2)
0.043 1.000 1.42e-3 2.04e-3 ✓ sig. —
Brachydactyly and mild neurodevelopmental delay Spondyloepimetaphyseal dysplasia
1 gene
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1 of 1 corroborated by 2+ sources
ERI1(4)
0.038 1.000 1.61e-3 2.26e-3 ✓ sig. —
Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin Pharyngeal disorder
1 gene
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1 of 1 corroborated by 2+ sources
ZBTB7A(2)
0.031 1.000 2.00e-3 2.72e-3 ✓ sig. —
Craniosynostosis Macrocephaly, neurodevelopmental delay, and seizures
1 gene
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KPTN(1)
0.014 1.000 4.52e-3 5.48e-3 ✓ sig. —
Developmental delay Macrocephaly, neurodevelopmental delay, and seizures
1 gene
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KPTN(1)
0.013 1.000 5.04e-3 6.03e-3 ✓ sig. Cluster 3 →
Congenital neurologic anomalies Neurodevelopmental delay, congenital heart defects, and distinct facial dysmorphism
1 gene
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1 of 1 corroborated by 2+ sources
TMEM94(2)
0.009 1.000 7.43e-3 8.57e-3 ✓ sig. —
Severe neurodevelopmental delay Spastic paraplegia
1 gene
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1 of 1 corroborated by 2+ sources
FICD(4)
0.008 1.000 8.01e-3 9.13e-3 ✓ sig. —
Complex neurodevelopmental disorder Macrocephaly, neurodevelopmental delay, and seizures
1 gene
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1 of 1 corroborated by 2+ sources
KPTN(2)
0.007 1.000 8.65e-3 9.79e-3 ✓ sig. Cluster 3 →

Showing 25 of 32 matching pairs, sorted by significance (ascending). Click a column header to sort.