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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.
0 selected Clear
Disease A ⇵Disease B ⇵Shared genes ⇵Similarity score ⇵Overlap coefficient ⇵P-value ⇵FDR q-value ▼ Shared cluster
Combined d-2- and l-2-hydroxyglutaric aciduria D-2-hydroxyglutaric aciduria
4 genes
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3 of 4 corroborated by 2+ sources
D2HGDH(5), IDH2(5), L2HGDH(1), SLC25A1(5)
0.800 1.000 4.27e-16 6.52e-15 ✓ sig. —
Congenital malformation syndromes predominantly affecting facial appearance Warburg micro syndrome
4 genes
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4 of 4 corroborated by 2+ sources
RAB18(6), RAB3GAP1(5), RAB3GAP2(5), TBC1D20(5)
0.800 1.000 4.27e-16 6.52e-15 ✓ sig. Cluster 48 →
Congenital mirror movements Mirror movements
4 genes
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4 of 4 corroborated by 2+ sources
DCC(7), RAD51(6), NTN1(5), DNAL4(6)
0.800 1.000 4.27e-16 6.52e-15 ✓ sig. —
De toni-debre-fanconi syndrome Fanconi renotubular syndrome
4 genes
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4 of 4 corroborated by 2+ sources
GATM(5), EHHADH(5), NDUFAF6(4), SLC34A1(5)
0.800 1.000 4.27e-16 6.52e-15 ✓ sig. Cluster 99 →
Nephrogenic diabetes insipidus Neurogenic diabetes insipidus
4 genes
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4 of 4 corroborated by 2+ sources
AVP(5), PRKCA(2), AQP2(5), AVPR2(6)
0.800 1.000 4.27e-16 6.52e-15 ✓ sig. —
mismatch repair cancer syndrome 1 Muir-torre syndrome
4 genes
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4 of 4 corroborated by 2+ sources
MSH2(5), MSH6(2), PMS2(2), MLH1(5)
0.800 1.000 4.27e-16 6.52e-15 ✓ sig. Cluster 166 →
complex hereditary spastic paraplegia Hereditary spastic paraplegia
7 genes
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7 of 7 corroborated by 2+ sources
NT5C2(2), B4GALNT1(2), GBA2(2), DSTYK(2), VPS37A(2), ENTPD1(2), MAG(2)
0.069 1.000 4.23e-16 6.49e-15 ✓ sig. Cluster 244 →
Congenital cardiovascular anomaly Peripheral vascular disease
6 genes
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CARD11(1), GNA12(1), ANK2(1), FANCC(1), SERTM1(1), DOK7(1)
0.171 0.857 4.19e-16 6.42e-15 ✓ sig. —
Arima syndrome Meckel-gruber syndrome
6 genes
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5 of 6 corroborated by 2+ sources
CC2D2A(5), CEP290(5), TMEM138(1), TMEM216(6), TMEM231(5), TMEM237(2)
0.171 0.857 4.19e-16 6.42e-15 ✓ sig. Cluster 8 →
Coloboma Congenital iris coloboma
5 genes
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3 of 5 corroborated by 2+ sources
PAX6(4), ACTG1(2), FZD5(1), ABCB6(1), SALL2(2)
0.313 1.000 4.17e-16 6.40e-15 ✓ sig. Cluster 272 →
Hereditary breast and ovarian cancer syndrome Hereditary breast-ovarian cancer syndrome
5 genes
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5 of 5 corroborated by 2+ sources
PALB2(2), BRCA2(5), BRCA1(5), RAD51C(5), RAD51D(5)
0.313 1.000 4.17e-16 6.40e-15 ✓ sig. Cluster 132 →
Congenital aneurysm of ascending aorta Loeys-dietz syndrome
6 genes
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2 of 6 corroborated by 2+ sources
FBN1(1), SMAD3(4), COL3A1(1), MYH11(1), TGFBR2(7), MYLK(1)
0.261 0.500 3.99e-16 6.14e-15 ✓ sig. Cluster 12 →
Congenital hyperinsulinism Hyperinsulinemic hypoglycemia
5 genes
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5 of 5 corroborated by 2+ sources
HADH(5), ABCC8(4), KCNJ11(5), GCK(3), GLUD1(3)
0.385 0.833 3.84e-16 5.92e-15 ✓ sig. Cluster 36 →
Nasal disorder Nasal polyp
8 genes
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CLEC16A(1), IL18R1(1), IL7R(1), IL1RL1(1), RANBP6(1), SPEF2(1), WDR36(1), CYP2S1(1)
0.145 0.348 3.75e-16 5.79e-15 ✓ sig. Cluster 137 →
Autoimmune hepatitis Rhinitis
10 genes
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9 of 10 corroborated by 2+ sources
HLA-DQA1(2), CYP2D6(1), IL10(2), IL2(2), IL4(2), LEP(2), HLA-DQB1(2), IFNG(2), IL13(2), IL18(2)
0.106 0.263 3.75e-16 5.79e-15 ✓ sig. Cluster 16 →
Cobalamin c disease Intracellular cobalamin metabolism disorder
5 genes
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5 of 5 corroborated by 2+ sources
MMACHC(6), MMADHC(2), ABCD4(2), HCFC1(2), LMBRD1(2)
0.417 0.714 3.67e-16 5.66e-15 ✓ sig. Cluster 246 →
Dyskeratosis congenita Telomere-related pulmonary fibrosis and/or bone marrow failure
6 genes
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6 of 6 corroborated by 2+ sources
RTEL1(8), TERT(8), PARN(7), ZCCHC8(5), POT1(4), NOP10(6)
0.207 0.750 3.48e-16 5.37e-15 ✓ sig. Cluster 64 →
Cerebral amyloid angiopathy Lewy body disease
13 genes
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1 of 13 corroborated by 2+ sources
APOC1(1), APOE(3), CDKAL1(1), KAZN(1), PTPRD(1), SGK1(1), HS3ST4(1), ATP10A(1), POLD3(1), ABTB2(1), KCNB2(1), RAG1(1) +1 more
0.084 0.183 3.48e-16 5.37e-15 ✓ sig. —
Hypercalcemia Osteoporosis
9 genes
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9 of 9 corroborated by 2+ sources
TNF(2), CALCR(3), IL6(2), PTH(2), KL(2), TNFRSF11B(3), CYP24A1(2), CALCA(2), TNFSF11(3)
0.060 0.692 3.34e-16 5.17e-15 ✓ sig. —
Hereditary motor and sensory neuropathies Spinal muscular atrophy
10 genes
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6 of 10 corroborated by 2+ sources
KIF1B(1), TRPV4(3), DYNC1H1(4), ATP7A(2), HSPB1(1), PLEKHG5(2), GARS1(4), HSPB8(1), IGHMBP2(3), HSPB3(1)
0.106 0.270 3.26e-16 5.05e-15 ✓ sig. Cluster 15 →
Periodic limb movement disorder Willis-ekbom disease
9 genes
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3 of 9 corroborated by 2+ sources
BTBD9(3), CNTNAP5(1), MAP2K5(1), PTPRD(3), MYT1(1), MEIS1(3), CCDC148(1), STK33(1), LMO1(1)
0.046 0.818 3.10e-16 4.80e-15 ✓ sig. —
Congenital pes cavus Peroneal muscle atrophy
7 genes
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DYNC1H1(1), NEFL(1), SH3TC2(1), GARS1(1), MPZ(1), GDAP1(1), GJB1(1)
0.156 0.583 2.97e-16 4.60e-15 ✓ sig. Cluster 15 →
Genetic predisposition to disease Urinary bladder neoplasms
13 genes
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CYP17A1(1), CAT(1), TERT(1), ESR1(1), PON1(1), GSTM1(1), SOD1(1), GPX1(1), JAK2(1), ERCC4(1), PPP3CC(1), BAP1(1) +1 more
0.073 0.271 2.92e-16 4.53e-15 ✓ sig. —
Charcot-marie-tooth disease Hereditary spastic paraplegia
16 genes
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8 of 16 corroborated by 2+ sources
SETX(2), SPG11(6), NRG1(1), BICD2(1), KIF5A(4), SH3TC2(6), BSCL2(1), POLG(1), REEP1(1), PLEKHG5(5), DNM2(7), TFG(2) +4 more
0.073 0.158 2.90e-16 4.50e-15 ✓ sig. —
Congenital hyperinsulinism Hyperinsulinism
6 genes
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6 of 6 corroborated by 2+ sources
HADH(3), ABCC8(6), HNF4A(4), KCNJ11(4), GCK(4), GLUD1(2)
0.140 1.000 2.84e-16 4.41e-15 ✓ sig. Cluster 36 →

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