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Cluster 5

39 diseases · 64 shared-gene connections
39 Diseases
147 Unique genes
0.062 Avg. similarity score
Congenital disorder of glycosylation Most-connected disease (25 links)
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Disease Pinned (dragged)
Node size = connections within this cluster · edge thickness = similarity strength · hover an edge for its details · click a node to select it and show its pairs below (double-click or Ctrl/⌘-click opens the disease page) · drag a node to pin it in place · scroll/pinch to zoom.
Congenital disorder of glycosylation Congenital myasthenic syndrome Myasthenic syndrome Postsynaptic congenital myasthenic syndrome Presynaptic congenital myasthenic syndrome Fetal akinesia deformation sequence

Member diseases (most connected first ‐ the cluster's core)

Disease ⇵ Connections in cluster ⇵ Significant partners ⇵ Curated genes ⇵
Congenital disorder of glycosylation 25 25 99
Congenital myasthenic syndrome 15 15 29
Myasthenic syndrome 13 13 40
Postsynaptic congenital myasthenic syndrome 8 8 12
Presynaptic congenital myasthenic syndrome 8 8 11
Fetal akinesia deformation sequence 6 6 12
congenital myasthenic syndrome 8 4 4 1
ALG2-congenital disorder of glycosylation 3 3 1
Intellectual developmental disorder seizures behavioral 3 3 1
congenital myasthenic syndrome 10 3 3 1
congenital myasthenic syndrome 6 3 3 1
congenital myasthenic syndrome 7 3 3 1
congenital myasthenic syndrome 9 3 3 1
neuronopathy, distal hereditary motor, type 7A 3 3 1
Ataxia, spastic, autosomal dominant 2 2 2
congenital myasthenic syndrome 12 2 2 1
myasthenic syndrome, congenital, 1b, fast-channel 2 2 1
ALG1-congenital disorder of glycosylation 1 1 1
ALG12-congenital disorder of glycosylation 1 1 1
ALG3-congenital disorder of glycosylation 1 1 1
Alstrom syndrome 1 1 1
COG1-congenital disorder of glycosylation 1 1 1
COG5-congenital disorder of glycosylation 1 1 1
COG7-congenital disorder of glycosylation 1 1 1
COG8-congenital disorder of glycosylation 1 1 1
DK1-congenital disorder of glycosylation 1 1 1
DPM3-congenital disorder of glycosylation 1 1 1
MAN2B2 deficiency 1 1 1
MGAT2-congenital disorder of glycosylation 1 1 1
MOGS-congenital disorder of glycosylation 1 1 1
MPDU1-congenital disorder of glycosylation 1 1 1
RFT1-congenital disorder of glycosylation 1 1 1
SLC35A1-congenital disorder of glycosylation 1 1 1
Sandestig-stefanova syndrome 1 1 1
congenital disorder of glycosylation type 1E 1 1 1
congenital disorder of glycosylation with defective fucosylation 1 1 1 1
congenital disorder of glycosylation with defective fucosylation 2 1 1 1
congenital disorder of glycosylation, type IIq 1 1 1
congenital disorder of glycosylation, type IIz 1 1 1

Top shared genes (genes linked to 2+ member diseases)

Gene ⇵ Member diseases ⇵ Linked diseases
AGRN 5 / 39 Congenital myasthenic syndrome, congenital myasthenic syndrome 8, Myasthenic syndrome, Postsynaptic congenital myasthenic syndrome and 1 more
DOK7 5 / 39 Congenital myasthenic syndrome, congenital myasthenic syndrome 10, Fetal akinesia deformation sequence, Myasthenic syndrome and 1 more
MUSK 5 / 39 Congenital myasthenic syndrome, congenital myasthenic syndrome 9, Fetal akinesia deformation sequence, Myasthenic syndrome and 1 more
ALG14 4 / 39 Congenital disorder of glycosylation, Congenital myasthenic syndrome, Intellectual developmental disorder seizures behavioral, Myasthenic syndrome
ALG2 4 / 39 ALG2-congenital disorder of glycosylation, Congenital disorder of glycosylation, Congenital myasthenic syndrome, Myasthenic syndrome
CHAT 4 / 39 Congenital myasthenic syndrome, congenital myasthenic syndrome 6, Myasthenic syndrome, Presynaptic congenital myasthenic syndrome
CHRNA1 4 / 39 Congenital myasthenic syndrome, Myasthenic syndrome, myasthenic syndrome, congenital, 1b, fast-channel, Postsynaptic congenital myasthenic syndrome
COL13A1 4 / 39 Congenital myasthenic syndrome, Myasthenic syndrome, Postsynaptic congenital myasthenic syndrome, Presynaptic congenital myasthenic syndrome
RAPSN 4 / 39 Congenital myasthenic syndrome, Fetal akinesia deformation sequence, Myasthenic syndrome, Postsynaptic congenital myasthenic syndrome
SLC18A3 4 / 39 Congenital myasthenic syndrome, Fetal akinesia deformation sequence, Myasthenic syndrome, Presynaptic congenital myasthenic syndrome
SLC5A7 4 / 39 Congenital myasthenic syndrome, Myasthenic syndrome, neuronopathy, distal hereditary motor, type 7A, Presynaptic congenital myasthenic syndrome
SYT2 4 / 39 Congenital myasthenic syndrome, congenital myasthenic syndrome 7, Myasthenic syndrome, Presynaptic congenital myasthenic syndrome
CHRNB1 3 / 39 Congenital myasthenic syndrome, Myasthenic syndrome, Postsynaptic congenital myasthenic syndrome
CHRND 3 / 39 Congenital myasthenic syndrome, Myasthenic syndrome, Postsynaptic congenital myasthenic syndrome
CHRNE 3 / 39 Congenital myasthenic syndrome, Myasthenic syndrome, Postsynaptic congenital myasthenic syndrome
DPAGT1 3 / 39 Congenital disorder of glycosylation, Congenital myasthenic syndrome, Myasthenic syndrome
GFPT1 3 / 39 Congenital myasthenic syndrome, congenital myasthenic syndrome 12, Myasthenic syndrome
LRP4 3 / 39 Congenital myasthenic syndrome, Myasthenic syndrome, Postsynaptic congenital myasthenic syndrome
MYO9A 3 / 39 Congenital myasthenic syndrome, Myasthenic syndrome, Presynaptic congenital myasthenic syndrome
SCN4A 3 / 39 Congenital myasthenic syndrome, Myasthenic syndrome, Postsynaptic congenital myasthenic syndrome
SLC25A1 3 / 39 Congenital myasthenic syndrome, Myasthenic syndrome, Presynaptic congenital myasthenic syndrome
SNAP25 3 / 39 Congenital myasthenic syndrome, Myasthenic syndrome, Presynaptic congenital myasthenic syndrome
VAMP1 3 / 39 Ataxia, spastic, autosomal dominant, Myasthenic syndrome, Presynaptic congenital myasthenic syndrome
ALG1 2 / 39 ALG1-congenital disorder of glycosylation, Congenital disorder of glycosylation
ALG12 2 / 39 ALG12-congenital disorder of glycosylation, Congenital disorder of glycosylation
ALG3 2 / 39 ALG3-congenital disorder of glycosylation, Congenital disorder of glycosylation
ALMS1 2 / 39 Alstrom syndrome, Fetal akinesia deformation sequence
CAMLG 2 / 39 Congenital disorder of glycosylation, congenital disorder of glycosylation, type IIz
CHD8 2 / 39 Congenital myasthenic syndrome, Myasthenic syndrome
COG1 2 / 39 COG1-congenital disorder of glycosylation, Congenital disorder of glycosylation
COG2 2 / 39 Congenital disorder of glycosylation, congenital disorder of glycosylation, type IIq
COG5 2 / 39 COG5-congenital disorder of glycosylation, Congenital disorder of glycosylation
COG7 2 / 39 COG7-congenital disorder of glycosylation, Congenital disorder of glycosylation
COG8 2 / 39 COG8-congenital disorder of glycosylation, Congenital disorder of glycosylation
COLQ 2 / 39 Congenital myasthenic syndrome, Myasthenic syndrome
DOLK 2 / 39 Congenital disorder of glycosylation, DK1-congenital disorder of glycosylation
DPM1 2 / 39 Congenital disorder of glycosylation, congenital disorder of glycosylation type 1E
DPM3 2 / 39 Congenital disorder of glycosylation, DPM3-congenital disorder of glycosylation
FCSK 2 / 39 Congenital disorder of glycosylation, congenital disorder of glycosylation with defective fucosylation 2
FUT8 2 / 39 Congenital disorder of glycosylation, congenital disorder of glycosylation with defective fucosylation 1
GMPPB 2 / 39 Congenital myasthenic syndrome, Myasthenic syndrome
MAN2B2 2 / 39 Congenital disorder of glycosylation, MAN2B2 deficiency
MGAT2 2 / 39 Congenital disorder of glycosylation, MGAT2-congenital disorder of glycosylation
MOGS 2 / 39 Congenital disorder of glycosylation, MOGS-congenital disorder of glycosylation
MPDU1 2 / 39 Congenital disorder of glycosylation, MPDU1-congenital disorder of glycosylation
NUP188 2 / 39 Congenital disorder of glycosylation, Sandestig-stefanova syndrome
PLEC 2 / 39 Congenital myasthenic syndrome, Myasthenic syndrome
PREPL 2 / 39 Congenital myasthenic syndrome, Myasthenic syndrome
RFT1 2 / 39 Congenital disorder of glycosylation, RFT1-congenital disorder of glycosylation
RPH3A 2 / 39 Congenital myasthenic syndrome, Myasthenic syndrome
SLC35A1 2 / 39 Congenital disorder of glycosylation, SLC35A1-congenital disorder of glycosylation
TAPBPL 2 / 39 Ataxia, spastic, autosomal dominant, Myasthenic syndrome
What do these columns mean?
Connections in cluster
How many other members this disease has a shared-gene link to (the node size in the network above). The most-connected diseases are the cluster's core.
Significant partners
How many of those links are statistically significant (FDR q < 0.05).
Curated genes
Distinct curated genes linked to that disease in GeDiPNet.
Member diseases (Top shared genes)
How many of this cluster's diseases are linked to the gene, out of the cluster's total. Genes shared by many members are the most direct explanation of why they group together.
Overlap genes (x / y)
x = genes shared between this cluster and the pathway/GO term; y = that pathway/GO term's total gene count. A higher x relative to y (and to the cluster's own size) means a tighter biological match.
Cluster gene count
Total distinct genes across every disease in this cluster -- the "n" used in the significance test below.
Fold enrichment
Observed overlap divided by the overlap expected by chance, given the cluster's gene count, the pathway/term's size and the gene universe tested. 5× means five times more shared genes than random. Tells strong hits apart when q-values are all vanishingly small.
P-value / FDR q-value
Is this pathway/GO term's overlap with the cluster more than chance? Upper-tail hypergeometric test, Benjamini-Hochberg corrected across every tested pathway/term (prefer the q-value -- it accounts for testing many at once).
Shared genes (Pairs within this cluster)
Number of curated genes the two diseases in that row have in common.
Similarity score (Pairs within this cluster)
Jaccard-based gene overlap between the two specific diseases in that row -- same metric as the main Shared-Gene Disease Pairs page.

Enriched Pathways (why this cluster is grouped, biologically)

Pathway ⇵ Source ⇵ Overlap genes ⇵ Fold enrichment ⇵ P-value ⇵ FDR q-value ⇵
N-Glycan biosynthesis KEGG 30 / 55 44.6× 4.51e-44 3.83e-40 ✓ sig.
Various types of N-glycan biosynthesis KEGG 19 / 43 36.1× 8.77e-26 1.76e-22 ✓ sig.
Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein Reactome 11 / 11 81.7× 6.32e-22 7.13e-19 ✓ sig.
Intra-Golgi traffic Reactome 10 / 44 18.6× 9.64e-11 1.39e-8 ✓ sig.
Metabolic pathways KEGG 48 / 1,563 2.5× 4.92e-10 6.02e-8 ✓ sig.
Retrograde transport at the Trans-Golgi-Network Reactome 8 / 46 14.2× 7.33e-8 4.98e-6 ✓ sig.
Asparagine N-linked glycosylation Reactome 5 / 11 37.1× 1.12e-7 7.21e-6 ✓ sig.
Biosynthesis of nucleotide sugars KEGG 7 / 37 15.5× 2.70e-7 1.56e-5 ✓ sig.
Synthesis of Dolichyl-phosphate Reactome 4 / 6 54.5× 3.17e-7 1.80e-5 ✓ sig.
COPI-mediated anterograde transport Reactome 10 / 101 8.1× 4.12e-7 2.26e-5 ✓ sig.
Protein processing in endoplasmic reticulum KEGG 12 / 171 5.7× 1.20e-6 5.71e-5 ✓ sig.
Synthesis of glycosylphosphatidylinositol (GPI) Reactome 5 / 17 24.0× 1.41e-6 6.58e-5 ✓ sig.
Synthesis of dolichyl-phosphate mannose Reactome 3 / 3 81.7× 1.80e-6 8.04e-5 ✓ sig.
Defective DPM1 causes DPM1-CDG (CDG-1e) Reactome 3 / 3 81.7× 1.80e-6 8.04e-5 ✓ sig.
Defective DPM3 causes DPM3-CDG (CDG-1o) Reactome 3 / 3 81.7× 1.80e-6 8.04e-5 ✓ sig.

Enriched GO Terms (Biological Process, a second line of biological evidence)

GO term ⇵ GO ID ⇵ Overlap genes ⇵ Fold enrichment ⇵ P-value ⇵ FDR q-value ⇵
protein N-linked glycosylation GO:0006487 28 / 62 57.4× 2.23e-43 3.26e-39 ✓ sig.
protein glycosylation GO:0006486 35 / 181 24.6× 3.59e-39 3.49e-35 ✓ sig.
dolichol-linked oligosaccharide biosynthetic process GO:0006488 17 / 19 114× 1.10e-34 8.18e-31 ✓ sig.
retrograde transport, vesicle recycling within Golgi GO:0000301 8 / 9 113× 1.08e-16 1.02e-13 ✓ sig.
protein N-linked glycosylation via asparagine GO:0018279 10 / 24 53.0× 1.19e-15 9.05e-13 ✓ sig.
glycosylation GO:0070085 8 / 20 50.8× 1.41e-12 6.28e-10 ✓ sig.
dolichyl monophosphate biosynthetic process GO:0043048 5 / 5 127× 2.81e-11 9.19e-9 ✓ sig.
synaptic transmission, cholinergic GO:0007271 7 / 25 35.6× 6.89e-10 1.61e-7 ✓ sig.
dolichol phosphate mannose biosynthetic process GO:0180047 4 / 4 127× 3.68e-9 7.10e-7 ✓ sig.
dolichyl diphosphate biosynthetic process GO:0006489 4 / 5 102× 1.83e-8 2.88e-6 ✓ sig.
GPI anchor biosynthetic process GO:0006506 6 / 31 24.6× 1.34e-7 1.54e-5 ✓ sig.
intra-Golgi vesicle-mediated transport GO:0006891 6 / 32 23.8× 1.64e-7 1.83e-5 ✓ sig.
cellular response to increased oxygen levels GO:0036295 4 / 8 63.6× 2.51e-7 2.63e-5 ✓ sig.
neuromuscular junction development GO:0007528 6 / 35 21.8× 2.88e-7 2.94e-5 ✓ sig.
skeletal muscle acetylcholine-gated channel clustering GO:0071340 4 / 9 56.5× 4.49e-7 4.27e-5 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵ Disease B ⇵ Similarity score ⇵ Shared genes ⇵ P-value ⇵ FDR q-value ⇵
Congenital myasthenic syndrome Myasthenic syndrome 0.667 28 2.85e-77 2.32e-75 ✓ sig.
Congenital myasthenic syndrome Postsynaptic congenital myasthenic syndrome 0.355 11 1.44e-30 4.72e-29 ✓ sig.
Myasthenic syndrome Postsynaptic congenital myasthenic syndrome 0.262 11 9.62e-29 2.96e-27 ✓ sig.
Myasthenic syndrome Presynaptic congenital myasthenic syndrome 0.238 10 4.52e-26 1.23e-24 ✓ sig.
Congenital myasthenic syndrome Presynaptic congenital myasthenic syndrome 0.281 9 4.11e-24 1.01e-22 ✓ sig.
Congenital myasthenic syndrome Fetal akinesia deformation sequence 0.105 4 4.97e-9 4.44e-8 ✓ sig.
Fetal akinesia deformation sequence Myasthenic syndrome 0.082 4 1.90e-8 1.58e-7 ✓ sig.
Fetal akinesia deformation sequence Postsynaptic congenital myasthenic syndrome 0.136 3 7.92e-8 5.96e-7 ✓ sig.
Ataxia, spastic, autosomal dominant Myasthenic syndrome 0.049 2 6.58e-6 3.53e-5 ✓ sig.
Postsynaptic congenital myasthenic syndrome Presynaptic congenital myasthenic syndrome 0.091 2 3.05e-5 1.49e-4 ✓ sig.
neuronopathy, distal hereditary motor, type 7A Presynaptic congenital myasthenic syndrome 0.083 1 7.14e-4 1.31e-3 ✓ sig.
congenital myasthenic syndrome 8 Presynaptic congenital myasthenic syndrome 0.083 1 7.14e-4 1.31e-3 ✓ sig.
congenital myasthenic syndrome 7 Presynaptic congenital myasthenic syndrome 0.083 1 7.14e-4 1.31e-3 ✓ sig.
congenital myasthenic syndrome 6 Presynaptic congenital myasthenic syndrome 0.083 1 7.14e-4 1.31e-3 ✓ sig.
congenital myasthenic syndrome 10 Postsynaptic congenital myasthenic syndrome 0.077 1 7.79e-4 1.39e-3 ✓ sig.
congenital myasthenic syndrome 9 Postsynaptic congenital myasthenic syndrome 0.077 1 7.79e-4 1.39e-3 ✓ sig.
congenital myasthenic syndrome 9 Fetal akinesia deformation sequence 0.077 1 7.79e-4 1.39e-3 ✓ sig.
congenital myasthenic syndrome 8 Postsynaptic congenital myasthenic syndrome 0.077 1 7.79e-4 1.39e-3 ✓ sig.
congenital myasthenic syndrome 10 Fetal akinesia deformation sequence 0.077 1 7.79e-4 1.39e-3 ✓ sig.
Alstrom syndrome Fetal akinesia deformation sequence 0.077 1 7.79e-4 1.39e-3 ✓ sig.
myasthenic syndrome, congenital, 1b, fast-channel Postsynaptic congenital myasthenic syndrome 0.077 1 7.79e-4 1.39e-3 ✓ sig.
Congenital disorder of glycosylation Congenital myasthenic syndrome 0.024 3 8.34e-4 1.48e-3 ✓ sig.
Ataxia, spastic, autosomal dominant Presynaptic congenital myasthenic syndrome 0.077 1 1.43e-3 2.21e-3 ✓ sig.
Congenital myasthenic syndrome neuronopathy, distal hereditary motor, type 7A 0.033 1 1.88e-3 2.75e-3 ✓ sig.
Congenital myasthenic syndrome congenital myasthenic syndrome 8 0.033 1 1.88e-3 2.75e-3 ✓ sig.
Congenital myasthenic syndrome congenital myasthenic syndrome 7 0.033 1 1.88e-3 2.75e-3 ✓ sig.
Congenital myasthenic syndrome myasthenic syndrome, congenital, 1b, fast-channel 0.033 1 1.88e-3 2.75e-3 ✓ sig.
Congenital myasthenic syndrome congenital myasthenic syndrome 6 0.033 1 1.88e-3 2.75e-3 ✓ sig.
Congenital myasthenic syndrome congenital myasthenic syndrome 12 0.033 1 1.88e-3 2.75e-3 ✓ sig.
Congenital myasthenic syndrome congenital myasthenic syndrome 10 0.033 1 1.88e-3 2.75e-3 ✓ sig.
ALG2-congenital disorder of glycosylation Congenital myasthenic syndrome 0.033 1 1.88e-3 2.75e-3 ✓ sig.
Congenital myasthenic syndrome congenital myasthenic syndrome 9 0.033 1 1.88e-3 2.75e-3 ✓ sig.
Congenital myasthenic syndrome Intellectual developmental disorder seizures behavioral 0.033 1 1.88e-3 2.75e-3 ✓ sig.
Congenital disorder of glycosylation Myasthenic syndrome 0.022 3 2.14e-3 3.03e-3 ✓ sig.
Intellectual developmental disorder seizures behavioral Myasthenic syndrome 0.024 1 2.60e-3 3.50e-3 ✓ sig.
congenital myasthenic syndrome 8 Myasthenic syndrome 0.024 1 2.60e-3 3.50e-3 ✓ sig.
Myasthenic syndrome neuronopathy, distal hereditary motor, type 7A 0.024 1 2.60e-3 3.50e-3 ✓ sig.
congenital myasthenic syndrome 7 Myasthenic syndrome 0.024 1 2.60e-3 3.50e-3 ✓ sig.
congenital myasthenic syndrome 6 Myasthenic syndrome 0.024 1 2.60e-3 3.50e-3 ✓ sig.
congenital myasthenic syndrome 12 Myasthenic syndrome 0.024 1 2.60e-3 3.50e-3 ✓ sig.
ALG2-congenital disorder of glycosylation Myasthenic syndrome 0.024 1 2.60e-3 3.50e-3 ✓ sig.
Congenital disorder of glycosylation SLC35A1-congenital disorder of glycosylation 0.010 1 6.43e-3 7.69e-3 ✓ sig.
Congenital disorder of glycosylation MAN2B2 deficiency 0.010 1 6.43e-3 7.69e-3 ✓ sig.
Congenital disorder of glycosylation MGAT2-congenital disorder of glycosylation 0.010 1 6.43e-3 7.69e-3 ✓ sig.
Congenital disorder of glycosylation MOGS-congenital disorder of glycosylation 0.010 1 6.43e-3 7.69e-3 ✓ sig.
Congenital disorder of glycosylation MPDU1-congenital disorder of glycosylation 0.010 1 6.43e-3 7.69e-3 ✓ sig.
Congenital disorder of glycosylation RFT1-congenital disorder of glycosylation 0.010 1 6.43e-3 7.69e-3 ✓ sig.
Congenital disorder of glycosylation Sandestig-stefanova syndrome 0.010 1 6.43e-3 7.69e-3 ✓ sig.
ALG1-congenital disorder of glycosylation Congenital disorder of glycosylation 0.010 1 6.43e-3 7.69e-3 ✓ sig.
Congenital disorder of glycosylation Intellectual developmental disorder seizures behavioral 0.010 1 6.43e-3 7.69e-3 ✓ sig.
Congenital disorder of glycosylation DPM3-congenital disorder of glycosylation 0.010 1 6.43e-3 7.69e-3 ✓ sig.
Congenital disorder of glycosylation DK1-congenital disorder of glycosylation 0.010 1 6.43e-3 7.69e-3 ✓ sig.
Congenital disorder of glycosylation congenital disorder of glycosylation, type IIz 0.010 1 6.43e-3 7.69e-3 ✓ sig.
Congenital disorder of glycosylation congenital disorder of glycosylation, type IIq 0.010 1 6.43e-3 7.69e-3 ✓ sig.
Congenital disorder of glycosylation congenital disorder of glycosylation with defective fucosylation 2 0.010 1 6.43e-3 7.69e-3 ✓ sig.
Congenital disorder of glycosylation congenital disorder of glycosylation with defective fucosylation 1 0.010 1 6.43e-3 7.69e-3 ✓ sig.
Congenital disorder of glycosylation congenital disorder of glycosylation type 1E 0.010 1 6.43e-3 7.69e-3 ✓ sig.
COG8-congenital disorder of glycosylation Congenital disorder of glycosylation 0.010 1 6.43e-3 7.69e-3 ✓ sig.
COG7-congenital disorder of glycosylation Congenital disorder of glycosylation 0.010 1 6.43e-3 7.69e-3 ✓ sig.
COG5-congenital disorder of glycosylation Congenital disorder of glycosylation 0.010 1 6.43e-3 7.69e-3 ✓ sig.
COG1-congenital disorder of glycosylation Congenital disorder of glycosylation 0.010 1 6.43e-3 7.69e-3 ✓ sig.
ALG3-congenital disorder of glycosylation Congenital disorder of glycosylation 0.010 1 6.43e-3 7.69e-3 ✓ sig.
ALG2-congenital disorder of glycosylation Congenital disorder of glycosylation 0.010 1 6.43e-3 7.69e-3 ✓ sig.
ALG12-congenital disorder of glycosylation Congenital disorder of glycosylation 0.010 1 6.43e-3 7.69e-3 ✓ sig.