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.

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Cluster 13

27 diseases · 63 shared-gene connections
27 Diseases
254 Unique genes
0.085 Avg. similarity score
Ciliopathy Most-connected disease (13 links)
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Disease Searched: Nephronophthisis 2 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 13 13 81
Joubert syndrome 13 13 61
Nephronophthisis 12 12 41
Aplasia of the vermis 11 11 54
Bardet-biedl syndrome 10 10 60
Senior-loken syndrome 7 7 13
Cystic kidney disease 6 6 32
Meckel-gruber syndrome 6 6 34
Orofaciodigital syndrome 6 6 34
Heart defect, tongue hamartoma and polysyndactyly 4 4 1
Joubert syndrome 24 4 4 1
Molar tooth sign 4 4 1
Nephronophthisis 4 4 4 1
Polydactyly 4 4 70
Alsahan-harris syndrome 3 3 1
Bardet-biedl syndrome 16 3 3 1
Nephronophthisis 2 3 3 1
Cone-rod dystrophy 20 2 2 1
Mckusick-kaufman syndrome 2 2 1
Orofaciodigital syndrome type 14 2 2 1
ALG6-congenital disorder of glycosylation 1C 1 1 1
Hepatorenocardiac degenerative fibrosis 1 1 1
Morbid obesity and spermatogenic failure 1 1 1
Nephronophthisis 20 1 1 1
Nephronophthisis 7 1 1 1
Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy 1 1 1
Retinitis pigmentosa with or without situs inversus 1 1 1

Top shared genes (genes linked to 2+ member diseases ‐ top 100 shown, download for all)

Gene ⇵ Member diseases ⇵ Linked diseases
CEP290 8 / 27 Aplasia of the vermis, Bardet-biedl syndrome, Ciliopathy, Cystic kidney disease and 4 more
CC2D2A 7 / 27 Aplasia of the vermis, Ciliopathy, Cystic kidney disease, Joubert syndrome and 3 more
MKS1 7 / 27 Aplasia of the vermis, Bardet-biedl syndrome, Ciliopathy, Cystic kidney disease and 3 more
RPGRIP1L 7 / 27 Aplasia of the vermis, Bardet-biedl syndrome, Ciliopathy, Cystic kidney disease and 3 more
TMEM67 7 / 27 Aplasia of the vermis, Bardet-biedl syndrome, Ciliopathy, Cystic kidney disease and 3 more
NPHP3 6 / 27 Aplasia of the vermis, Bardet-biedl syndrome, Joubert syndrome, Meckel-gruber syndrome and 2 more
RLIG1 6 / 27 Aplasia of the vermis, Bardet-biedl syndrome, Joubert syndrome, Meckel-gruber syndrome and 2 more
SDCCAG8 6 / 27 Bardet-biedl syndrome, Bardet-biedl syndrome 16, Ciliopathy, Cystic kidney disease and 2 more
TMEM216 6 / 27 Aplasia of the vermis, Ciliopathy, Cystic kidney disease, Joubert syndrome and 2 more
WDPCP 6 / 27 Aplasia of the vermis, Bardet-biedl syndrome, Ciliopathy, Heart defect, tongue hamartoma and polysyndactyly and 2 more
CBY1 5 / 27 Aplasia of the vermis, Ciliopathy, Joubert syndrome, Molar tooth sign and 1 more
CPLANE1 5 / 27 Aplasia of the vermis, Joubert syndrome, Nephronophthisis, Orofaciodigital syndrome and 1 more
KIF7 5 / 27 Aplasia of the vermis, Bardet-biedl syndrome, Joubert syndrome, Orofaciodigital syndrome and 1 more
NPHP1 5 / 27 Aplasia of the vermis, Bardet-biedl syndrome, Joubert syndrome, Nephronophthisis and 1 more
NPHP4 5 / 27 Bardet-biedl syndrome, Joubert syndrome, Nephronophthisis, Nephronophthisis 4 and 1 more
OFD1 5 / 27 Aplasia of the vermis, Ciliopathy, Joubert syndrome, Orofaciodigital syndrome and 1 more
PDE6D 5 / 27 Aplasia of the vermis, Ciliopathy, Joubert syndrome, Orofaciodigital syndrome and 1 more
TCTN2 5 / 27 Aplasia of the vermis, Cystic kidney disease, Joubert syndrome, Joubert syndrome 24 and 1 more
TCTN3 5 / 27 Aplasia of the vermis, Ciliopathy, Joubert syndrome, Meckel-gruber syndrome and 1 more
TMEM17 5 / 27 Aplasia of the vermis, Ciliopathy, Joubert syndrome, Meckel-gruber syndrome and 1 more
TMEM231 5 / 27 Aplasia of the vermis, Ciliopathy, Joubert syndrome, Meckel-gruber syndrome and 1 more
B9D1 4 / 27 Aplasia of the vermis, Ciliopathy, Joubert syndrome, Meckel-gruber syndrome
B9D2 4 / 27 Aplasia of the vermis, Ciliopathy, Joubert syndrome, Meckel-gruber syndrome
IFT172 4 / 27 Aplasia of the vermis, Bardet-biedl syndrome, Ciliopathy, Nephronophthisis
IFT74 4 / 27 Aplasia of the vermis, Bardet-biedl syndrome, Ciliopathy, Joubert syndrome
INVS 4 / 27 Cystic kidney disease, Nephronophthisis, Nephronophthisis 2, Senior-loken syndrome
IQCB1 4 / 27 Bardet-biedl syndrome, Ciliopathy, Nephronophthisis, Senior-loken syndrome
KIAA0586 4 / 27 Aplasia of the vermis, Joubert syndrome, Meckel-gruber syndrome, Polydactyly
MKKS 4 / 27 Bardet-biedl syndrome, Ciliopathy, Mckusick-kaufman syndrome, Nephronophthisis
SCLT1 4 / 27 Bardet-biedl syndrome, Ciliopathy, Orofaciodigital syndrome, Senior-loken syndrome
TBC1D32 4 / 27 Alsahan-harris syndrome, Ciliopathy, Joubert syndrome, Orofaciodigital syndrome
TMEM107 4 / 27 Ciliopathy, Joubert syndrome, Meckel-gruber syndrome, Orofaciodigital syndrome
TMEM138 4 / 27 Aplasia of the vermis, Ciliopathy, Joubert syndrome, Meckel-gruber syndrome
TMEM218 4 / 27 Aplasia of the vermis, Ciliopathy, Joubert syndrome, Meckel-gruber syndrome
TTC21B 4 / 27 Aplasia of the vermis, Bardet-biedl syndrome, Joubert syndrome, Nephronophthisis
WDR19 4 / 27 Bardet-biedl syndrome, Ciliopathy, Nephronophthisis, Senior-loken syndrome
AHI1 3 / 27 Aplasia of the vermis, Joubert syndrome, Nephronophthisis
ARL6 3 / 27 Bardet-biedl syndrome, Ciliopathy, Polydactyly
BBS1 3 / 27 Bardet-biedl syndrome, Ciliopathy, Polydactyly
BBS10 3 / 27 Bardet-biedl syndrome, Ciliopathy, Polydactyly
BBS12 3 / 27 Bardet-biedl syndrome, Ciliopathy, Polydactyly
BBS9 3 / 27 Bardet-biedl syndrome, Ciliopathy, Nephronophthisis
C2CD3 3 / 27 Aplasia of the vermis, Orofaciodigital syndrome, Orofaciodigital syndrome type 14
CEP104 3 / 27 Aplasia of the vermis, Ciliopathy, Joubert syndrome
CEP120 3 / 27 Aplasia of the vermis, Ciliopathy, Joubert syndrome
CEP164 3 / 27 Ciliopathy, Nephronophthisis, Senior-loken syndrome
CEP41 3 / 27 Aplasia of the vermis, Ciliopathy, Joubert syndrome
CEP76 3 / 27 Bardet-biedl syndrome, Ciliopathy, Joubert syndrome
CSPP1 3 / 27 Aplasia of the vermis, Joubert syndrome, Meckel-gruber syndrome
DDX59 3 / 27 Ciliopathy, Orofaciodigital syndrome, Polydactyly
FAM149B1 3 / 27 Aplasia of the vermis, Joubert syndrome, Orofaciodigital syndrome
IFT140 3 / 27 Joubert syndrome, Nephronophthisis, Orofaciodigital syndrome
IFT27 3 / 27 Bardet-biedl syndrome, Ciliopathy, Polydactyly
IFT57 3 / 27 Bardet-biedl syndrome, Ciliopathy, Orofaciodigital syndrome
KATNIP 3 / 27 Aplasia of the vermis, Ciliopathy, Joubert syndrome
KIAA0753 3 / 27 Aplasia of the vermis, Joubert syndrome, Orofaciodigital syndrome
LZTFL1 3 / 27 Bardet-biedl syndrome, Ciliopathy, Polydactyly
PIBF1 3 / 27 Aplasia of the vermis, Ciliopathy, Joubert syndrome
POC1B 3 / 27 Ciliopathy, Cone-rod dystrophy 20, Joubert syndrome
RPGRIP1 3 / 27 Bardet-biedl syndrome, Joubert syndrome, Meckel-gruber syndrome
SUFU 3 / 27 Aplasia of the vermis, Ciliopathy, Joubert syndrome
TCTN1 3 / 27 Aplasia of the vermis, Joubert syndrome, Meckel-gruber syndrome
TMEM237 3 / 27 Aplasia of the vermis, Joubert syndrome, Meckel-gruber syndrome
TOGARAM1 3 / 27 Aplasia of the vermis, Ciliopathy, Joubert syndrome
TTC8 3 / 27 Bardet-biedl syndrome, Ciliopathy, Polydactyly
ZNF423 3 / 27 Ciliopathy, Joubert syndrome, Nephronophthisis
ADAMTS9 2 / 27 Ciliopathy, Nephronophthisis
AKT3 2 / 27 Bardet-biedl syndrome, Senior-loken syndrome
ALG6 2 / 27 ALG6-congenital disorder of glycosylation 1C, Cystic kidney disease
ANKS6 2 / 27 Cystic kidney disease, Nephronophthisis
ARL13B 2 / 27 Aplasia of the vermis, Joubert syndrome
ARL2BP 2 / 27 Ciliopathy, Retinitis pigmentosa with or without situs inversus
ARL3 2 / 27 Aplasia of the vermis, Joubert syndrome
ARMC9 2 / 27 Aplasia of the vermis, Joubert syndrome
ATP6V0A2 2 / 27 Aplasia of the vermis, Meckel-gruber syndrome
BBIP1 2 / 27 Bardet-biedl syndrome, Ciliopathy
BBS2 2 / 27 Bardet-biedl syndrome, Ciliopathy
BBS4 2 / 27 Bardet-biedl syndrome, Ciliopathy
BBS5 2 / 27 Bardet-biedl syndrome, Ciliopathy
BBS7 2 / 27 Bardet-biedl syndrome, Ciliopathy
CEP19 2 / 27 Bardet-biedl syndrome, Morbid obesity and spermatogenic failure
CEP83 2 / 27 Ciliopathy, Nephronophthisis
CFAP418 2 / 27 Bardet-biedl syndrome, Ciliopathy
CIBAR1 2 / 27 Ciliopathy, Polydactyly
DCDC2 2 / 27 Ciliopathy, Nephronophthisis
DNAJB11 2 / 27 Ciliopathy, Cystic kidney disease
EXOC8 2 / 27 Aplasia of the vermis, Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy
GLI1 2 / 27 Bardet-biedl syndrome, Polydactyly
GLI2 2 / 27 Bardet-biedl syndrome, Polydactyly
GLIS2 2 / 27 Nephronophthisis, Nephronophthisis 7
HYLS1 2 / 27 Aplasia of the vermis, Joubert syndrome
IFT43 2 / 27 Ciliopathy, Polydactyly
IFT80 2 / 27 Cystic kidney disease, Polydactyly
INPP5E 2 / 27 Aplasia of the vermis, Joubert syndrome
INTU 2 / 27 Nephronophthisis, Orofaciodigital syndrome
KIF14 2 / 27 Joubert syndrome, Meckel-gruber syndrome
MAPKBP1 2 / 27 Nephronophthisis, Nephronophthisis 20
SLC30A7 2 / 27 Aplasia of the vermis, Joubert syndrome
SMAD6 2 / 27 Joubert syndrome, Polydactyly
TOPORS 2 / 27 Ciliopathy, Orofaciodigital 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
ALMS1, CEP290, IQCB1, MKS1, NPHP1, NPHP4, RPGRIP1L, SCLT1, SDCCAG8, TMEM67, B9D1, B9D2
 Reactome 26 / 98 12.5× 7.88e-22 8.20e-19 ✓ sig.
Hedgehog 'off' state
GLI1, GLI2, IFT172, IFT57, MKS1, RPGRIP1L, WDR19, KIF7, TTC21B, DYNC2H1, OFD1, SUFU
 Reactome 21 / 56 17.7× 2.06e-21 1.95e-18 ✓ sig.
BBSome-mediated cargo-targeting to cilium
ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, LZTFL1, MKKS
 Reactome 13 / 23 26.7× 1.18e-16 4.90e-14 ✓ sig.
Intraflagellar transport
IFT172, IFT27, IFT57, IFT74, WDR19, TTC21B, DYNC2H1, IFT43, IFT81, KIF3B, TRAF3IP1, IFT80
 Reactome 17 / 54 14.9× 4.65e-16 1.76e-13 ✓ sig.
Hedgehog signaling pathway
GLI1, GLI2, KIF7, SUFU, EVC2, EVC, GLI3, KIF3A, MEGF8, SHH, CCND2, EFCAB7
 KEGG 14 / 56 11.8× 6.59e-12 1.04e-9 ✓ sig.
Activation of SMO
EVC2, EVC, KIF3A, SHH, EFCAB7, PTCH1, IQCE
 Reactome 7 / 18 18.4× 4.55e-8 2.80e-6 ✓ sig.
Basal cell carcinoma
GLI1, GLI2, KIF7, SUFU, WNT9B, GLI3, SHH, PTCH1, BMP4
 KEGG 9 / 63 6.8× 6.42e-6 2.02e-4 ✓ sig.
ARL13B-mediated ciliary trafficking of INPP5E
ARL13B, INPP5E, PDE6D
 Reactome 3 / 3 47.3× 9.35e-6 2.75e-4 ✓ sig.
GLI proteins bind promoters of Hh responsive genes to promote transcription
GLI1, GLI2, GLI3
 Reactome 3 / 3 47.3× 9.35e-6 2.75e-4 ✓ sig.
Loss of Nlp from mitotic centrosomes
ALMS1, CEP290, SDCCAG8, CCP110, CEP164, OFD1, CEP41, TUBB4B, CEP76
 Reactome 9 / 70 6.1× 1.55e-5 4.21e-4 ✓ sig.
Loss of proteins required for interphase microtubule organization from the centrosome
ALMS1, CEP290, SDCCAG8, CCP110, CEP164, OFD1, CEP41, TUBB4B, CEP76
 Reactome 9 / 70 6.1× 1.55e-5 4.21e-4 ✓ sig.
Hedgehog 'on' state
GLI1, GLI2, PSMD1, KIF7, SUFU, EVC2, EVC, GLI3, PTCH1
 Reactome 9 / 70 6.1× 1.55e-5 4.21e-4 ✓ sig.
AURKA Activation by TPX2
ALMS1, CEP290, SDCCAG8, CCP110, CEP164, OFD1, CEP41, TUBB4B, CEP76
 Reactome 9 / 73 5.8× 2.19e-5 5.62e-4 ✓ sig.
Recruitment of mitotic centrosome proteins and complexes
ALMS1, CEP290, SDCCAG8, CCP110, CEP164, OFD1, CEP41, TUBB4B, CEP76
 Reactome 9 / 82 5.2× 5.60e-5 1.19e-3 ✓ sig.
Regulation of PLK1 Activity at G2/M Transition
ALMS1, CEP290, SDCCAG8, CCP110, CEP164, OFD1, CEP41, TUBB4B, CEP76
 Reactome 9 / 88 4.8× 9.79e-5 1.86e-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
ARL6, BBIP1, BBS1, BBS2, BBS4, BBS5, BBS7, BBS9, CCDC28B, CEP19, CEP290, IFT172
 GO:0060271 80 / 237 24.8× 3.77e-92 4.78e-87 ✓ sig.
cell projection organization
ARL6, BBIP1, BBS1, BBS2, BBS4, BBS5, BBS7, BBS9, CCDC28B, CEP19, CEP290, IFT74
 GO:0030030 66 / 214 22.7× 2.30e-72 1.75e-67 ✓ sig.
non-motile cilium assembly
BBS1, BBS10, BBS2, BBS4, BBS7, CEP290, IFT172, IFT57, IFT74, MKKS, MKS1, NPHP3
 GO:1905515 30 / 57 38.7× 1.76e-41 2.16e-37 ✓ sig.
smoothened signaling pathway
BBS7, GLI1, GLI2, IFT172, IFT27, IFT57, WDPCP, WDR19, TTC21B, B9D1, CC2D2A, SUFU
 GO:0007224 31 / 94 24.3× 6.59e-35 5.02e-31 ✓ sig.
embryonic digit morphogenesis
MKS1, WDPCP, B9D1, TBC1D32, TMEM107, TMEM231, TRAF3IP1, TULP3, C2CD3, IFT140, INTU, ALX4
 GO:0042733 20 / 57 25.8× 1.68e-23 4.36e-20 ✓ sig.
regulation of smoothened signaling pathway
ARL6, GLI1, IFT172, MKS1, RPGRIP1L, TTC21B, IFT81, TULP3, C2CD3, TCTN1, IFT140, INTU
 GO:0008589 16 / 29 40.6× 4.89e-23 1.18e-19 ✓ sig.
kidney development
CEP290, COMT, GLI2, IFT27, NPHP3, RPGRIP1L, WDPCP, CC2D2A, DYNC2H1, TBC1D32, TRAF3IP1, PKD1
 GO:0001822 26 / 146 13.1× 8.30e-22 1.74e-18 ✓ sig.
determination of left/right symmetry
ARL6, BBS7, IFT172, IFT74, MKKS, MKS1, NPHP3, RPGRIP1L, CC2D2A, DYNC2H1, KIF3B, SUFU
 GO:0007368 21 / 83 18.6× 3.18e-21 6.26e-18 ✓ sig.
intraciliary transport
BBS12, IFT172, IFT27, IFT57, IFT74, WDPCP, IFT81, KIF3B, TRAF3IP1, ARL3, IFT140, INTU
 GO:0042073 16 / 36 32.7× 4.84e-21 9.08e-18 ✓ sig.
positive regulation of smoothened signaling pathway
GLI1, IFT172, KIF7, CIBAR1, DCDC2, DLG5, DYNC2H1, TXNDC15, ARMC9, EVC, INTU, RAB34
 GO:0045880 15 / 39 28.3× 1.24e-18 1.61e-15 ✓ sig.
protein localization to cilium
ARL6, BBS1, BBS4, BBS9, TTC21B, DYNC2H1, TBC1D32, TULP3, ZNF423, ARL3, FAM149B1, IFT140
 GO:0061512 14 / 44 23.4× 4.10e-16 3.56e-13 ✓ sig.
fat cell differentiation
ARL6, BBS1, BBS12, BBS2, BBS4, BBS7, BBS9, MKKS, OSBPL8, TRIM32, TTC8, CBY1
 GO:0045444 16 / 93 12.7× 1.27e-13 7.15e-11 ✓ sig.
neural tube patterning
RPGRIP1L, TBC1D32, TMEM107, TRAF3IP1, ARL13B, IFT140, PTCH1
 GO:0021532 7 / 8 64.4× 6.24e-13 3.05e-10 ✓ sig.
intraciliary anterograde transport
IFT172, IFT27, IFT57, IFT74, IFT81, TRAF3IP1, IFT80, CLUAP1, IFT88
 GO:0035720 9 / 19 34.8× 1.13e-12 5.30e-10 ✓ sig.
heart looping
BBS4, BBS5, BBS7, IFT172, IFT57, MKKS, NPHP3, SUFU, AHI1, ARL13B, C2CD3, CLUAP1
 GO:0001947 13 / 64 14.9× 2.82e-12 1.22e-9 ✓ 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 0.611 44 1.57e-105 6.92e-104 ✓ sig.
Ciliopathy Joubert syndrome 0.254 29 4.48e-52 1.23e-50 ✓ sig.
Bardet-biedl syndrome Ciliopathy 0.246 28 6.21e-50 1.67e-48 ✓ sig.
Joubert syndrome Meckel-gruber syndrome 0.315 23 1.17e-49 3.14e-48 ✓ sig.
Aplasia of the vermis Meckel-gruber syndrome 0.328 22 3.15e-48 8.26e-47 ✓ sig.
Aplasia of the vermis Ciliopathy 0.236 26 9.13e-47 2.35e-45 ✓ sig.
Ciliopathy Meckel-gruber syndrome 0.160 16 1.33e-28 2.52e-27 ✓ sig.
Ciliopathy Nephronophthisis 0.139 15 8.66e-25 1.47e-23 ✓ sig.
Bardet-biedl syndrome Nephronophthisis 0.159 14 1.09e-24 1.85e-23 ✓ sig.
Nephronophthisis Senior-loken syndrome 0.222 10 1.46e-24 2.47e-23 ✓ sig.
Joubert syndrome Orofaciodigital syndrome 0.157 13 1.22e-23 1.99e-22 ✓ sig.
Bardet-biedl syndrome Senior-loken syndrome 0.156 10 9.79e-23 1.56e-21 ✓ sig.
Joubert syndrome Nephronophthisis 0.144 13 2.26e-22 3.57e-21 ✓ sig.
Aplasia of the vermis Orofaciodigital syndrome 0.156 12 4.49e-22 7.00e-21 ✓ sig.
Ciliopathy Orofaciodigital syndrome 0.126 13 6.78e-22 1.05e-20 ✓ sig.
Ciliopathy Polydactyly 0.110 15 6.91e-21 1.04e-19 ✓ sig.
Aplasia of the vermis Bardet-biedl syndrome 0.127 13 1.08e-20 1.62e-19 ✓ sig.
Bardet-biedl syndrome Joubert syndrome 0.119 13 6.28e-20 9.16e-19 ✓ sig.
Aplasia of the vermis Nephronophthisis 0.129 11 9.12e-19 1.28e-17 ✓ sig.
Bardet-biedl syndrome Polydactyly 0.092 11 1.72e-15 2.13e-14 ✓ sig.
Ciliopathy Senior-loken syndrome 0.080 7 1.37e-13 1.55e-12 ✓ sig.
Cystic kidney disease Meckel-gruber syndrome 0.117 7 4.11e-13 4.54e-12 ✓ sig.
Cystic kidney disease Nephronophthisis 0.104 7 1.70e-12 1.80e-11 ✓ sig.
Joubert syndrome Polydactyly 0.074 9 5.81e-12 5.96e-11 ✓ sig.
Joubert syndrome Senior-loken syndrome 0.071 5 1.01e-9 8.70e-9 ✓ sig.
Bardet-biedl syndrome 16 Senior-loken syndrome 0.071 1 8.39e-4 1.34e-3 ✓ sig.
Nephronophthisis 4 Senior-loken syndrome 0.071 1 8.39e-4 1.34e-3 ✓ sig.
Nephronophthisis 2 Senior-loken syndrome 0.071 1 8.39e-4 1.34e-3 ✓ sig.
Bardet-biedl syndrome 16 Cystic kidney disease 0.030 1 2.07e-3 2.79e-3 ✓ sig.
ALG6-congenital disorder of glycosylation 1C Cystic kidney disease 0.030 1 2.07e-3 2.79e-3 ✓ sig.
Cystic kidney disease Joubert syndrome 24 0.030 1 2.07e-3 2.79e-3 ✓ sig.
Cystic kidney disease Nephronophthisis 2 0.030 1 2.07e-3 2.79e-3 ✓ sig.
Alsahan-harris syndrome Orofaciodigital syndrome 0.029 1 2.20e-3 2.92e-3 ✓ sig.
Orofaciodigital syndrome Orofaciodigital syndrome type 14 0.029 1 2.20e-3 2.92e-3 ✓ sig.
Heart defect, tongue hamartoma and polysyndactyly Meckel-gruber syndrome 0.029 1 2.20e-3 2.92e-3 ✓ sig.
Heart defect, tongue hamartoma and polysyndactyly Orofaciodigital syndrome 0.029 1 2.20e-3 2.92e-3 ✓ sig.
Joubert syndrome 24 Meckel-gruber syndrome 0.029 1 2.20e-3 2.92e-3 ✓ sig.
Bardet-biedl syndrome 16 Nephronophthisis 0.024 1 2.65e-3 3.41e-3 ✓ sig.
Nephronophthisis Nephronophthisis 7 0.024 1 2.65e-3 3.41e-3 ✓ sig.
Nephronophthisis Nephronophthisis 4 0.024 1 2.65e-3 3.41e-3 ✓ sig.
Mckusick-kaufman syndrome Nephronophthisis 0.024 1 2.65e-3 3.41e-3 ✓ sig.
Nephronophthisis Nephronophthisis 20 0.024 1 2.65e-3 3.41e-3 ✓ sig.
Nephronophthisis Nephronophthisis 2 0.024 1 2.65e-3 3.41e-3 ✓ sig.
Aplasia of the vermis Heart defect, tongue hamartoma and polysyndactyly 0.018 1 3.49e-3 4.34e-3 ✓ sig.
Aplasia of the vermis Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy 0.018 1 3.49e-3 4.34e-3 ✓ sig.
Aplasia of the vermis Joubert syndrome 24 0.018 1 3.49e-3 4.34e-3 ✓ sig.
Aplasia of the vermis Orofaciodigital syndrome type 14 0.018 1 3.49e-3 4.34e-3 ✓ sig.
Aplasia of the vermis Molar tooth sign 0.018 1 3.49e-3 4.34e-3 ✓ sig.
Bardet-biedl syndrome Mckusick-kaufman syndrome 0.016 1 3.87e-3 4.77e-3 ✓ sig.
Bardet-biedl syndrome Nephronophthisis 4 0.016 1 3.87e-3 4.77e-3 ✓ sig.
Bardet-biedl syndrome Morbid obesity and spermatogenic failure 0.016 1 3.87e-3 4.77e-3 ✓ sig.
Bardet-biedl syndrome Heart defect, tongue hamartoma and polysyndactyly 0.016 1 3.87e-3 4.77e-3 ✓ sig.
Cone-rod dystrophy 20 Joubert syndrome 0.016 1 3.94e-3 4.83e-3 ✓ sig.
Alsahan-harris syndrome Joubert syndrome 0.016 1 3.94e-3 4.83e-3 ✓ sig.
Joubert syndrome Nephronophthisis 4 0.016 1 3.94e-3 4.83e-3 ✓ sig.
Joubert syndrome Joubert syndrome 24 0.016 1 3.94e-3 4.83e-3 ✓ sig.
Joubert syndrome Molar tooth sign 0.016 1 3.94e-3 4.83e-3 ✓ sig.
Molar tooth sign Polydactyly 0.014 1 4.46e-3 5.41e-3 ✓ sig.
Ciliopathy Hepatorenocardiac degenerative fibrosis 0.012 1 5.23e-3 6.23e-3 ✓ sig.
Ciliopathy Cone-rod dystrophy 20 0.012 1 5.23e-3 6.23e-3 ✓ sig.
Ciliopathy Molar tooth sign 0.012 1 5.23e-3 6.23e-3 ✓ sig.
Ciliopathy Retinitis pigmentosa with or without situs inversus 0.012 1 5.23e-3 6.23e-3 ✓ sig.
Alsahan-harris syndrome Ciliopathy 0.012 1 5.23e-3 6.23e-3 ✓ sig.