Disease Clusters?

Groups of diseases that share a large number of curated genes with each other, computed via label propagation over the shared-gene similarity graph. See also Shared-Gene Disease Pairs for pairwise comparisons.

← Back to all clusters

Cluster 8

35 diseases · 89 shared-gene connections
35 Diseases
235 Unique genes
0.074 Avg. similarity score
Ciliopathy Most-connected disease (18 links)
Log in to save this analysis

Save This Analysis

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.

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

Disease ⇵ Connections in cluster ⇵ Significant partners ⇵ Curated genes ⇵
Ciliopathy 18 18 71
Aplasia of the vermis 16 16 54
Bardet-biedl syndrome 14 14 59
Joubert syndrome 14 14 58
Nephronophthisis 14 14 40
Cystic kidney disease 9 9 26
Senior-loken syndrome 9 9 13
Meckel-gruber syndrome 8 8 33
Orofaciodigital syndrome 5 5 32
Arima syndrome 4 4 7
Congenital cerebral hernia 4 4 1
Congenital cystic kidney disease 4 4 4
Dandy-walker syndrome 4 4 20
Heart defect, tongue hamartoma and polysyndactyly 4 4 1
joubert syndrome 21 4 4 1
joubert syndrome 24 4 4 1
nephronophthisis 4 4 4 1
BBS12-related ciliopathy 3 3 1
CEP164-related ciliopathy 3 3 1
Polydactyly 3 3 39
bardet-biedl syndrome 16 3 3 1
joubert syndrome 30 3 3 1
nephronophthisis 1 3 3 1
nephronophthisis 2 3 3 1
BBS1-related ciliopathy 2 2 1
BBS2-related ciliopathy 2 2 1
BBS4-related ciliopathy 2 2 1
BBS7-related ciliopathy 2 2 1
LZTFL1-related ciliopathy 2 2 1
MKKS-related ciliopathy 2 2 1
orofaciodigital syndrome type 14 2 2 1
ALG6-congenital disorder of glycosylation 1C 1 1 1
Retinitis pigmentosa with or without situs inversus 1 1 1
nephronophthisis 20 1 1 1
nephronophthisis 7 1 1 1

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

Gene ⇵ Member diseases ⇵ Linked diseases
CC2D2A 8 / 35 Aplasia of the vermis, Arima syndrome, Ciliopathy, Cystic kidney disease and 4 more
CEP290 8 / 35 Aplasia of the vermis, Arima syndrome, Bardet-biedl syndrome, Cystic kidney disease and 4 more
MKS1 7 / 35 Aplasia of the vermis, Bardet-biedl syndrome, Ciliopathy, Cystic kidney disease and 3 more
RPGRIP1L 7 / 35 Aplasia of the vermis, Bardet-biedl syndrome, Ciliopathy, Cystic kidney disease and 3 more
TMEM216 7 / 35 Aplasia of the vermis, Arima syndrome, Ciliopathy, Cystic kidney disease and 3 more
TMEM231 7 / 35 Aplasia of the vermis, Arima syndrome, Ciliopathy, Congenital cystic kidney disease and 3 more
TMEM67 7 / 35 Aplasia of the vermis, Bardet-biedl syndrome, Ciliopathy, Cystic kidney disease and 3 more
NPHP1 6 / 35 Aplasia of the vermis, Bardet-biedl syndrome, Joubert syndrome, Nephronophthisis and 2 more
NPHP3 6 / 35 Aplasia of the vermis, Bardet-biedl syndrome, Joubert syndrome, Meckel-gruber syndrome and 2 more
RLIG1 6 / 35 Aplasia of the vermis, Bardet-biedl syndrome, Joubert syndrome, Meckel-gruber syndrome and 2 more
SDCCAG8 6 / 35 Bardet-biedl syndrome, bardet-biedl syndrome 16, Ciliopathy, Cystic kidney disease and 2 more
B9D1 5 / 35 Aplasia of the vermis, Ciliopathy, Congenital cystic kidney disease, Joubert syndrome and 1 more
CPLANE1 5 / 35 Aplasia of the vermis, Joubert syndrome, Nephronophthisis, Orofaciodigital syndrome and 1 more
CSPP1 5 / 35 Aplasia of the vermis, Dandy-walker syndrome, Joubert syndrome, joubert syndrome 21 and 1 more
KIF7 5 / 35 Aplasia of the vermis, Bardet-biedl syndrome, Joubert syndrome, Orofaciodigital syndrome and 1 more
NPHP4 5 / 35 Bardet-biedl syndrome, Joubert syndrome, Nephronophthisis, nephronophthisis 4 and 1 more
OFD1 5 / 35 Aplasia of the vermis, Ciliopathy, Joubert syndrome, Orofaciodigital syndrome and 1 more
PIBF1 5 / 35 Aplasia of the vermis, Ciliopathy, Congenital cerebral hernia, Dandy-walker syndrome and 1 more
TCTN2 5 / 35 Aplasia of the vermis, Cystic kidney disease, Joubert syndrome, joubert syndrome 24 and 1 more
TCTN3 5 / 35 Aplasia of the vermis, Ciliopathy, Joubert syndrome, Meckel-gruber syndrome and 1 more
TMEM138 5 / 35 Aplasia of the vermis, Arima syndrome, Ciliopathy, Joubert syndrome and 1 more
WDPCP 5 / 35 Aplasia of the vermis, Bardet-biedl syndrome, Ciliopathy, Heart defect, tongue hamartoma and polysyndactyly and 1 more
ARMC9 4 / 35 Aplasia of the vermis, Dandy-walker syndrome, Joubert syndrome, joubert syndrome 30
B9D2 4 / 35 Aplasia of the vermis, Ciliopathy, Joubert syndrome, Meckel-gruber syndrome
BBS12 4 / 35 Bardet-biedl syndrome, BBS12-related ciliopathy, Ciliopathy, Polydactyly
CEP164 4 / 35 CEP164-related ciliopathy, Ciliopathy, Nephronophthisis, Senior-loken syndrome
IFT172 4 / 35 Aplasia of the vermis, Bardet-biedl syndrome, Ciliopathy, Nephronophthisis
IFT74 4 / 35 Aplasia of the vermis, Bardet-biedl syndrome, Ciliopathy, Joubert syndrome
INVS 4 / 35 Cystic kidney disease, Nephronophthisis, nephronophthisis 2, Senior-loken syndrome
IQCB1 4 / 35 Bardet-biedl syndrome, Ciliopathy, Nephronophthisis, Senior-loken syndrome
KIAA0586 4 / 35 Aplasia of the vermis, Joubert syndrome, Meckel-gruber syndrome, Polydactyly
PDE6D 4 / 35 Aplasia of the vermis, ciliopathy, Joubert syndrome, Orofaciodigital syndrome
SCLT1 4 / 35 Bardet-biedl syndrome, Ciliopathy, Orofaciodigital syndrome, Senior-loken syndrome
TMEM107 4 / 35 Ciliopathy, Joubert syndrome, Meckel-gruber syndrome, Orofaciodigital syndrome
TMEM218 4 / 35 Aplasia of the vermis, Ciliopathy, Joubert syndrome, Meckel-gruber syndrome
TMEM237 4 / 35 Aplasia of the vermis, Arima syndrome, Joubert syndrome, Meckel-gruber syndrome
TTC21B 4 / 35 Aplasia of the vermis, Bardet-biedl syndrome, Joubert syndrome, Nephronophthisis
WDR19 4 / 35 Bardet-biedl syndrome, Ciliopathy, Nephronophthisis, Senior-loken syndrome
ZNF423 4 / 35 Arima syndrome, Ciliopathy, Joubert syndrome, Nephronophthisis
AHI1 3 / 35 Aplasia of the vermis, Joubert syndrome, Nephronophthisis
BBS1 3 / 35 Bardet-biedl syndrome, BBS1-related ciliopathy, Ciliopathy
BBS10 3 / 35 Bardet-biedl syndrome, Ciliopathy, Polydactyly
BBS2 3 / 35 Bardet-biedl syndrome, BBS2-related ciliopathy, Ciliopathy
BBS4 3 / 35 Bardet-biedl syndrome, BBS4-related ciliopathy, Ciliopathy
BBS7 3 / 35 Bardet-biedl syndrome, BBS7-related ciliopathy, Ciliopathy
BBS9 3 / 35 Bardet-biedl syndrome, Ciliopathy, Nephronophthisis
C2CD3 3 / 35 Aplasia of the vermis, Orofaciodigital syndrome, orofaciodigital syndrome type 14
CBY1 3 / 35 Aplasia of the vermis, Ciliopathy, Joubert syndrome
CEP104 3 / 35 Aplasia of the vermis, Ciliopathy, Joubert syndrome
CEP120 3 / 35 Aplasia of the vermis, Ciliopathy, Joubert syndrome
CEP41 3 / 35 Aplasia of the vermis, ciliopathy, Joubert syndrome
FAM149B1 3 / 35 Aplasia of the vermis, Joubert syndrome, Orofaciodigital syndrome
HYLS1 3 / 35 Aplasia of the vermis, Dandy-walker syndrome, Joubert syndrome
IFT140 3 / 35 Joubert syndrome, Nephronophthisis, Orofaciodigital syndrome
IFT57 3 / 35 Bardet-biedl syndrome, ciliopathy, Orofaciodigital syndrome
KATNIP 3 / 35 Aplasia of the vermis, Ciliopathy, Joubert syndrome
KIAA0753 3 / 35 Aplasia of the vermis, Joubert syndrome, Orofaciodigital syndrome
KIF14 3 / 35 Congenital cystic kidney disease, Joubert syndrome, Meckel-gruber syndrome
LZTFL1 3 / 35 Bardet-biedl syndrome, Ciliopathy, LZTFL1-related ciliopathy
MKKS 3 / 35 Bardet-biedl syndrome, MKKS-related ciliopathy, Nephronophthisis
RPGRIP1 3 / 35 Bardet-biedl syndrome, Joubert syndrome, Meckel-gruber syndrome
SUFU 3 / 35 Aplasia of the vermis, Ciliopathy, Joubert syndrome
TBC1D32 3 / 35 Ciliopathy, Joubert syndrome, Orofaciodigital syndrome
TCTN1 3 / 35 Aplasia of the vermis, Joubert syndrome, Meckel-gruber syndrome
TMEM17 3 / 35 Aplasia of the vermis, Meckel-gruber syndrome, Orofaciodigital syndrome
TOGARAM1 3 / 35 Aplasia of the vermis, Ciliopathy, Joubert syndrome
TXNDC15 3 / 35 Ciliopathy, Congenital cystic kidney disease, Meckel-gruber syndrome
ADAMTS9 2 / 35 Ciliopathy, Nephronophthisis
AKT3 2 / 35 Bardet-biedl syndrome, Senior-loken syndrome
ALG6 2 / 35 ALG6-congenital disorder of glycosylation 1C, Cystic kidney disease
ANKS6 2 / 35 Cystic kidney disease, Nephronophthisis
ARL13B 2 / 35 Aplasia of the vermis, Joubert syndrome
ARL2BP 2 / 35 Ciliopathy, Retinitis pigmentosa with or without situs inversus
ARL3 2 / 35 Aplasia of the vermis, Joubert syndrome
ARL6 2 / 35 Bardet-biedl syndrome, Ciliopathy
ATP6V0A2 2 / 35 Aplasia of the vermis, Meckel-gruber syndrome
BBIP1 2 / 35 Bardet-biedl syndrome, ciliopathy
CEP83 2 / 35 Ciliopathy, Nephronophthisis
CFAP418 2 / 35 Bardet-biedl syndrome, Ciliopathy
CIBAR1 2 / 35 Ciliopathy, Polydactyly
DCDC2 2 / 35 Ciliopathy, Nephronophthisis
DDX59 2 / 35 ciliopathy, Orofaciodigital syndrome
GLI1 2 / 35 Bardet-biedl syndrome, Polydactyly
GLIS2 2 / 35 Nephronophthisis, nephronophthisis 7
IFT27 2 / 35 Bardet-biedl syndrome, Ciliopathy
IFT80 2 / 35 Cystic kidney disease, Polydactyly
INPP5E 2 / 35 Aplasia of the vermis, Joubert syndrome
INTU 2 / 35 Nephronophthisis, Orofaciodigital syndrome
MAPKBP1 2 / 35 Nephronophthisis, nephronophthisis 20
SLC30A7 2 / 35 Aplasia of the vermis, Joubert syndrome
SMAD6 2 / 35 Joubert syndrome, Polydactyly
TOPORS 2 / 35 Ciliopathy, Orofaciodigital syndrome
TRAF3IP1 2 / 35 Ciliopathy, Senior-loken syndrome
TTC8 2 / 35 Bardet-biedl syndrome, Polydactyly
USH2A 2 / 35 Aplasia of the vermis, Bardet-biedl 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 ⇵
Anchoring of the basal body to the plasma membrane
CC2D2A, CEP290, TMEM216, ALMS1, IQCB1, MKS1, NPHP1, NPHP4, RPGRIP1L, SCLT1, SDCCAG8, TMEM67
 Reactome 25 / 98 13.0× 2.08e-21 2.11e-18 ✓ sig.
Hedgehog 'off' state
GLI1, GLI2, IFT172, IFT57, MKS1, RPGRIP1L, WDR19, KIF7, TTC21B, DYNC2H1, OFD1, SUFU
 Reactome 20 / 56 18.3× 1.26e-20 1.09e-17 ✓ sig.
BBSome-mediated cargo-targeting to cilium
ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, LZTFL1, MKKS
 Reactome 13 / 23 28.9× 4.26e-17 2.04e-14 ✓ sig.
Intraflagellar transport
IFT172, IFT27, IFT57, IFT74, WDR19, TTC21B, DYNC2H1, IFT43, IFT81, KIF3B, TRAF3IP1, IFT80
 Reactome 17 / 54 16.1× 1.25e-16 5.54e-14 ✓ sig.
Hedgehog signaling pathway
GLI1, GLI2, KIF7, SUFU, EVC2, EVC, GLI3, KIF3A, MEGF8, SHH, CCND2, EFCAB7
 KEGG 14 / 56 12.8× 2.29e-12 4.69e-10 ✓ sig.
Activation of SMO
EVC2, EVC, KIF3A, SHH, EFCAB7, PTCH1, IQCE
 Reactome 7 / 18 19.9× 2.66e-8 2.07e-6 ✓ sig.
ARL13B-mediated ciliary trafficking of INPP5E
ARL13B, INPP5E, PDE6D
 Reactome 3 / 3 51.1× 7.40e-6 2.61e-4 ✓ sig.
GLI proteins bind promoters of Hh responsive genes to promote transcription
GLI1, GLI2, GLI3
 Reactome 3 / 3 51.1× 7.40e-6 2.61e-4 ✓ sig.
Hedgehog 'on' state
GLI1, GLI2, PSMD1, KIF7, SUFU, EVC2, EVC, GLI3, PTCH1
 Reactome 9 / 70 6.6× 8.31e-6 2.87e-4 ✓ sig.
Basal cell carcinoma
GLI1, GLI2, KIF7, SUFU, WNT9B, GLI3, SHH, PTCH1
 KEGG 8 / 63 6.5× 2.92e-5 8.16e-4 ✓ sig.
Regulation of PLK1 Activity at G2/M Transition
CEP290, ALMS1, SDCCAG8, CCP110, CEP164, OFD1, PPP1CB, TUBA1A, CEP41
 Reactome 9 / 88 5.2× 5.38e-5 1.36e-3 ✓ sig.
Loss of Nlp from mitotic centrosomes
CEP290, ALMS1, SDCCAG8, CCP110, CEP164, OFD1, TUBA1A, CEP41
 Reactome 8 / 70 5.8× 6.33e-5 1.55e-3 ✓ sig.
Loss of proteins required for interphase microtubule organization from the centrosome
CEP290, ALMS1, SDCCAG8, CCP110, CEP164, OFD1, TUBA1A, CEP41
 Reactome 8 / 70 5.8× 6.33e-5 1.55e-3 ✓ sig.
AURKA Activation by TPX2
CEP290, ALMS1, SDCCAG8, CCP110, CEP164, OFD1, TUBA1A, CEP41
 Reactome 8 / 73 5.6× 8.57e-5 1.98e-3 ✓ sig.
Recruitment of mitotic centrosome proteins and complexes
CEP290, ALMS1, SDCCAG8, CCP110, CEP164, OFD1, TUBA1A, CEP41
 Reactome 8 / 82 5.0× 1.95e-4 3.84e-3 ✓ 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 ⇵
cilium assembly
CC2D2A, CEP290, TMEM138, TMEM216, TMEM231, TMEM237, ARL6, BBIP1, BBS1, BBS2, BBS4, BBS5
 GO:0060271 77 / 237 25.8× 4.67e-90 5.45e-85 ✓ sig.
cell projection organization
CC2D2A, CEP290, TMEM138, TMEM216, TMEM231, TMEM237, ARL6, BBIP1, BBS1, BBS2, BBS4, BBS5
 GO:0030030 64 / 214 23.8× 1.52e-71 1.33e-66 ✓ sig.
non-motile cilium assembly
CC2D2A, CEP290, TMEM216, BBS1, BBS10, BBS2, BBS4, BBS7, IFT172, IFT57, IFT74, MKKS
 GO:1905515 29 / 57 40.5× 1.44e-40 1.53e-36 ✓ sig.
smoothened signaling pathway
CC2D2A, TMEM231, BBS7, GLI1, GLI2, IFT172, IFT27, IFT57, WDPCP, WDR19, TTC21B, B9D1
 GO:0007224 31 / 94 26.2× 5.36e-36 4.26e-32 ✓ sig.
regulation of smoothened signaling pathway
ARL6, GLI1, IFT172, MKS1, RPGRIP1L, TTC21B, IFT81, TULP3, ZIC1, C2CD3, TCTN1, IFT140
 GO:0008589 16 / 29 43.9× 1.37e-23 3.78e-20 ✓ sig.
determination of left/right symmetry
CC2D2A, ARL6, BBS7, IFT172, IFT74, MKKS, MKS1, NPHP3, RPGRIP1L, DYNC2H1, KIF3B, SUFU
 GO:0007368 20 / 83 19.2× 1.76e-20 3.12e-17 ✓ sig.
embryonic digit morphogenesis
TMEM231, MKS1, WDPCP, B9D1, TBC1D32, TMEM107, TRAF3IP1, TULP3, C2CD3, IFT140, INTU, ALX4
 GO:0042733 17 / 57 23.7× 2.45e-19 3.61e-16 ✓ sig.
positive regulation of smoothened signaling pathway
GLI1, IFT172, KIF7, CIBAR1, DCDC2, DLG5, DYNC2H1, TXNDC15, ARMC9, EVC, INTU, RAB34
 GO:0045880 14 / 39 28.5× 1.91e-17 2.13e-14 ✓ sig.
kidney development
CC2D2A, CEP290, COMT, GLI2, IFT27, NPHP3, RPGRIP1L, WDPCP, DYNC2H1, TBC1D32, TRAF3IP1, PKD1
 GO:0001822 21 / 146 11.4× 1.53e-16 1.38e-13 ✓ sig.
intraciliary transport
BBS12, IFT172, IFT27, IFT57, IFT74, WDPCP, IFT81, KIF3B, TRAF3IP1, ARL3, IFT140, INTU
 GO:0042073 13 / 36 28.7× 2.52e-16 2.21e-13 ✓ sig.
protein localization to cilium
ZNF423, ARL6, BBS1, BBS4, BBS9, TTC21B, DYNC2H1, TBC1D32, TULP3, ARL3, FAM149B1, IFT140
 GO:0061512 13 / 44 23.5× 5.19e-15 3.54e-12 ✓ sig.
neural tube patterning
RPGRIP1L, TBC1D32, TMEM107, TRAF3IP1, ARL13B, IFT140, PTCH1
 GO:0021532 7 / 8 69.6× 3.60e-13 1.79e-10 ✓ sig.
intraciliary anterograde transport
IFT172, IFT27, IFT57, IFT74, IFT81, TRAF3IP1, IFT80, CLUAP1, IFT88
 GO:0035720 9 / 19 37.7× 5.59e-13 2.70e-10 ✓ sig.
fat cell differentiation
ARL6, BBS1, BBS12, BBS2, BBS4, BBS7, BBS9, MKKS, OSBPL8, TRIM32, TTC8, CBY1
 GO:0045444 15 / 93 12.8× 6.51e-13 3.09e-10 ✓ sig.
heart looping
BBS4, BBS5, BBS7, IFT172, IFT57, MKKS, NPHP3, SUFU, AHI1, ARL13B, C2CD3, CLUAP1
 GO:0001947 13 / 64 16.2× 1.05e-12 4.82e-10 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵ Disease B ⇵ Similarity score ⇵ Shared genes ⇵ P-value ⇵ FDR q-value ⇵
Aplasia of the vermis Joubert syndrome 0.614 43 1.57e-103 1.99e-101 ✓ sig.
Joubert syndrome Meckel-gruber syndrome 0.314 22 9.10e-48 4.75e-46 ✓ sig.
Aplasia of the vermis Meckel-gruber syndrome 0.313 21 1.08e-45 5.48e-44 ✓ sig.
Ciliopathy Joubert syndrome 0.238 25 5.15e-45 2.55e-43 ✓ sig.
Aplasia of the vermis Ciliopathy 0.235 24 1.36e-43 6.58e-42 ✓ sig.
Bardet-biedl syndrome Ciliopathy 0.213 23 4.40e-40 1.95e-38 ✓ sig.
Bardet-biedl syndrome Nephronophthisis 0.163 14 5.98e-25 1.54e-23 ✓ sig.
Nephronophthisis Senior-loken syndrome 0.227 10 1.17e-24 2.96e-23 ✓ sig.
Ciliopathy Meckel-gruber syndrome 0.141 13 7.10e-23 1.62e-21 ✓ sig.
Joubert syndrome Nephronophthisis 0.151 13 8.07e-23 1.83e-21 ✓ sig.
Bardet-biedl syndrome Senior-loken syndrome 0.159 10 8.65e-23 1.96e-21 ✓ sig.
Aplasia of the vermis Orofaciodigital syndrome 0.160 12 1.99e-22 4.46e-21 ✓ sig.
Joubert syndrome Orofaciodigital syndrome 0.152 12 5.16e-22 1.13e-20 ✓ sig.
Ciliopathy Nephronophthisis 0.131 13 1.46e-21 3.13e-20 ✓ sig.
Ciliopathy Orofaciodigital syndrome 0.130 12 7.29e-21 1.53e-19 ✓ sig.
Aplasia of the vermis Bardet-biedl syndrome 0.129 13 9.16e-21 1.91e-19 ✓ sig.
Aplasia of the vermis Nephronophthisis 0.131 11 7.13e-19 1.35e-17 ✓ sig.
Bardet-biedl syndrome Joubert syndrome 0.113 12 2.37e-18 4.41e-17 ✓ sig.
Arima syndrome Joubert syndrome 0.119 7 7.39e-18 1.33e-16 ✓ sig.
Arima syndrome Meckel-gruber syndrome 0.171 6 4.19e-16 6.80e-15 ✓ sig.
Cystic kidney disease Meckel-gruber syndrome 0.132 7 6.72e-14 9.31e-13 ✓ sig.
Cystic kidney disease Nephronophthisis 0.117 7 2.91e-13 3.91e-12 ✓ sig.
Aplasia of the vermis Cystic kidney disease 0.095 7 2.72e-12 3.31e-11 ✓ sig.
Ciliopathy Senior-loken syndrome 0.076 6 1.30e-11 1.50e-10 ✓ sig.
Congenital cystic kidney disease Meckel-gruber syndrome 0.118 4 1.75e-11 1.99e-10 ✓ sig.
Joubert syndrome Polydactyly 0.077 7 1.04e-10 1.09e-9 ✓ sig.
Aplasia of the vermis Polydactyly 0.068 6 4.17e-9 3.75e-8 ✓ sig.
Arima syndrome Cystic kidney disease 0.097 3 1.49e-7 1.08e-6 ✓ sig.
Congenital cystic kidney disease Joubert syndrome 0.050 3 2.02e-7 1.42e-6 ✓ sig.
Ciliopathy Congenital cystic kidney disease 0.041 3 3.75e-7 2.53e-6 ✓ sig.
Aplasia of the vermis Dandy-walker syndrome 0.056 4 6.28e-7 4.04e-6 ✓ sig.
Cystic kidney disease Senior-loken syndrome 0.081 3 1.21e-6 7.40e-6 ✓ sig.
nephronophthisis 2 Senior-loken syndrome 0.071 1 8.44e-4 1.48e-3 ✓ sig.
nephronophthisis 1 Senior-loken syndrome 0.071 1 8.44e-4 1.48e-3 ✓ sig.
nephronophthisis 4 Senior-loken syndrome 0.071 1 8.44e-4 1.48e-3 ✓ sig.
bardet-biedl syndrome 16 Senior-loken syndrome 0.071 1 8.44e-4 1.48e-3 ✓ sig.
CEP164-related ciliopathy Senior-loken syndrome 0.071 1 8.44e-4 1.48e-3 ✓ sig.
Congenital cerebral hernia Dandy-walker syndrome 0.048 1 1.30e-3 2.04e-3 ✓ sig.
Dandy-walker syndrome joubert syndrome 30 0.048 1 1.30e-3 2.04e-3 ✓ sig.
Dandy-walker syndrome joubert syndrome 21 0.048 1 1.30e-3 2.04e-3 ✓ sig.
ALG6-congenital disorder of glycosylation 1C Cystic kidney disease 0.037 1 1.69e-3 2.51e-3 ✓ sig.
Cystic kidney disease nephronophthisis 2 0.037 1 1.69e-3 2.51e-3 ✓ sig.
bardet-biedl syndrome 16 Cystic kidney disease 0.037 1 1.69e-3 2.51e-3 ✓ sig.
Cystic kidney disease joubert syndrome 24 0.037 1 1.69e-3 2.51e-3 ✓ sig.
Arima syndrome Congenital cystic kidney disease 0.091 1 1.82e-3 2.66e-3 ✓ sig.
Orofaciodigital syndrome orofaciodigital syndrome type 14 0.030 1 2.08e-3 2.95e-3 ✓ sig.
Heart defect, tongue hamartoma and polysyndactyly Orofaciodigital syndrome 0.030 1 2.08e-3 2.95e-3 ✓ sig.
joubert syndrome 21 Meckel-gruber syndrome 0.029 1 2.14e-3 3.03e-3 ✓ sig.
joubert syndrome 24 Meckel-gruber syndrome 0.029 1 2.14e-3 3.03e-3 ✓ sig.
BBS12-related ciliopathy Polydactyly 0.025 1 2.53e-3 3.44e-3 ✓ sig.
Nephronophthisis nephronophthisis 1 0.024 1 2.60e-3 3.50e-3 ✓ sig.
Nephronophthisis nephronophthisis 7 0.024 1 2.60e-3 3.50e-3 ✓ sig.
MKKS-related ciliopathy Nephronophthisis 0.024 1 2.60e-3 3.50e-3 ✓ sig.
bardet-biedl syndrome 16 Nephronophthisis 0.024 1 2.60e-3 3.50e-3 ✓ sig.
Nephronophthisis nephronophthisis 4 0.024 1 2.60e-3 3.50e-3 ✓ sig.
Nephronophthisis nephronophthisis 2 0.024 1 2.60e-3 3.50e-3 ✓ sig.
CEP164-related ciliopathy Nephronophthisis 0.024 1 2.60e-3 3.50e-3 ✓ sig.
Nephronophthisis nephronophthisis 20 0.024 1 2.60e-3 3.50e-3 ✓ sig.
Aplasia of the vermis Heart defect, tongue hamartoma and polysyndactyly 0.018 1 3.51e-3 4.51e-3 ✓ sig.
Aplasia of the vermis nephronophthisis 1 0.018 1 3.51e-3 4.51e-3 ✓ sig.
Aplasia of the vermis Congenital cerebral hernia 0.018 1 3.51e-3 4.51e-3 ✓ sig.
Aplasia of the vermis joubert syndrome 30 0.018 1 3.51e-3 4.51e-3 ✓ sig.
Aplasia of the vermis joubert syndrome 24 0.018 1 3.51e-3 4.51e-3 ✓ sig.
Aplasia of the vermis joubert syndrome 21 0.018 1 3.51e-3 4.51e-3 ✓ sig.
Aplasia of the vermis orofaciodigital syndrome type 14 0.018 1 3.51e-3 4.51e-3 ✓ sig.
Joubert syndrome joubert syndrome 30 0.017 1 3.77e-3 4.80e-3 ✓ sig.
Joubert syndrome nephronophthisis 4 0.017 1 3.77e-3 4.80e-3 ✓ sig.
Joubert syndrome joubert syndrome 24 0.017 1 3.77e-3 4.80e-3 ✓ sig.
Joubert syndrome joubert syndrome 21 0.017 1 3.77e-3 4.80e-3 ✓ sig.
Congenital cerebral hernia Joubert syndrome 0.017 1 3.77e-3 4.80e-3 ✓ sig.
Bardet-biedl syndrome nephronophthisis 4 0.017 1 3.83e-3 4.88e-3 ✓ sig.
Bardet-biedl syndrome BBS4-related ciliopathy 0.017 1 3.83e-3 4.88e-3 ✓ sig.
Bardet-biedl syndrome BBS7-related ciliopathy 0.017 1 3.83e-3 4.88e-3 ✓ sig.
Bardet-biedl syndrome BBS1-related ciliopathy 0.017 1 3.83e-3 4.88e-3 ✓ sig.
Bardet-biedl syndrome MKKS-related ciliopathy 0.017 1 3.83e-3 4.88e-3 ✓ sig.
Bardet-biedl syndrome LZTFL1-related ciliopathy 0.017 1 3.83e-3 4.88e-3 ✓ sig.
Bardet-biedl syndrome BBS2-related ciliopathy 0.017 1 3.83e-3 4.88e-3 ✓ sig.
Bardet-biedl syndrome BBS12-related ciliopathy 0.017 1 3.83e-3 4.88e-3 ✓ sig.
Bardet-biedl syndrome Heart defect, tongue hamartoma and polysyndactyly 0.017 1 3.83e-3 4.88e-3 ✓ sig.
Ciliopathy Congenital cerebral hernia 0.014 1 4.61e-3 5.73e-3 ✓ sig.
BBS1-related ciliopathy Ciliopathy 0.014 1 4.61e-3 5.73e-3 ✓ sig.
Ciliopathy LZTFL1-related ciliopathy 0.014 1 4.61e-3 5.73e-3 ✓ sig.
BBS2-related ciliopathy Ciliopathy 0.014 1 4.61e-3 5.73e-3 ✓ sig.
BBS4-related ciliopathy Ciliopathy 0.014 1 4.61e-3 5.73e-3 ✓ sig.
BBS12-related ciliopathy Ciliopathy 0.014 1 4.61e-3 5.73e-3 ✓ sig.
Ciliopathy Heart defect, tongue hamartoma and polysyndactyly 0.014 1 4.61e-3 5.73e-3 ✓ sig.
CEP164-related ciliopathy Ciliopathy 0.014 1 4.61e-3 5.73e-3 ✓ sig.
Ciliopathy Retinitis pigmentosa with or without situs inversus 0.014 1 4.61e-3 5.73e-3 ✓ sig.
BBS7-related ciliopathy Ciliopathy 0.014 1 4.61e-3 5.73e-3 ✓ sig.