Intraflagellar transport

No Pathway Network information available for Intraflagellar transport

Ordered by rank within the SuperPath, via the multiplicity of each gene in the constituent pathways

Disorders associated with Intraflagellar transport SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Asphyxiating thoracic dystrophyEnrichmentDYNC2H1, DYNC2I1, DYNC2I2, IFT140, IFT27, IFT74, IFT80, IFT81, TRAF3IP1, TTC21B, WDR19, WDR3516.00
2Jeune thoracic dystrophyEnrichmentDYNC2H1, DYNC2I1, DYNC2I2, IFT140, IFT27, IFT74, IFT80, IFT81, TRAF3IP1, TTC21B, WDR19, WDR3516.00
3Short-rib thoracic dysplasia 1 with or without polydactylyEnrichmentDYNC2H1, DYNC2I1, DYNC2I2, DYNC2LI1, IFT140, IFT172, IFT27, IFT74, IFT80, IFT81, TRAF3IP1, TTC21B, WDR19, WDR3510.97
4Short rib-polydactyly syndrome, verma-naumoff typeEnrichmentDYNC2H1, DYNC2I1, DYNC2I2, IFT80, WDR3510.95
5Short rib-polydactyly syndromeEnrichmentDYNC2H1, IFT43, IFT52, IFT81, WDR3510.65
6Cranioectodermal dysplasiaEnrichmentIFT122, IFT140, IFT43, IFT52, WDR19, WDR3510.54
7Short-rib thoracic dysplasia 12EnrichmentDYNC2H1, IFT122, IFT80, TTC21B, WDR1910.21
8Short-rib thoracic dysplasia 6 with or without polydactylyEnrichmentDYNC2H1, IFT172, IFT80, TRAF3IP1, TTC21B9.19
9Cranioectodermal dysplasia 1EnrichmentIFT122, IFT140, WDR19, WDR358.11
10Tubulinopathy-associated dysgyriaEnrichmentTUBA1A, TUBB2B, TUBB37.22
11Short-rib thoracic dysplasia 3 with or without polydactylyEnrichmentDYNC2H1, DYNC2I1, DYNC2I2, DYNLT2B6.96
12TubulinopathyEnrichmentTUBA1A, TUBB2A, TUBB2B6.62
13Short-rib thoracic dysplasia 9 with or without polydactylyEnrichmentIFT140, IFT172, WDR196.23
14Congenital fibrosis of the extraocular musclesEnrichmentTUBA1A, TUBB2B, TUBB35.93
15Bardet-biedl syndrome 22EnrichmentIFT172, IFT744.81
16Senior-loken syndrome 1EnrichmentTRAF3IP1, TTC21B, WDR194.78
17LissencephalyEnrichmentTUBA1A, TUBB2B, TUBB34.12
18Retinitis pigmentosaEnrichmentIFT122, IFT140, IFT172, IFT43, IFT81, IFT883.73
19Connective tissue diseaseEnrichmentTRIP11, TTC21B, WDR193.56
20NephronophthisisEnrichmentIFT140, TTC21B, WDR193.52
21Polymicrogyria, bilateral perisylvian, x-linkedEnrichmentTUBA1A, TUBB2B3.49
22Leber plus diseaseEnrichmentCLUAP1, IFT140, TUBB4B, WDR193.26
23Bilateral perisylvian polymicrogyriaEnrichmentTUBA1A, TUBB2B3.26
24Bardet-biedl syndromeEnrichmentIFT172, IFT27, IFT743.21
25Hereditary retinal dystrophyEnrichmentDYNC2H1, IFT140, IFT172, IFT81, TTC21B, WDR193.00
26Fundus dystrophyEnrichmentDYNC2H1, IFT140, IFT172, IFT81, TTC21B, WDR193.00
27Achondrogenesis, type iaEnrichmentTRIP112.40
28Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvementEnrichmentTUBB32.40
29Macrothrombocytopenia, isolated, 1, autosomal dominantEnrichmentTUBB12.40
30Odontochondrodysplasia 1EnrichmentTRIP112.40
31Senior-loken syndrome 8EnrichmentWDR192.40
32Cranioectodermal dysplasia 4EnrichmentWDR192.40
33Orofaciodigital syndrome xviiiEnrichmentIFT572.40
34Leber congenital amaurosis with early-onset deafnessEnrichmentTUBB4B2.40
35Short-rib thoracic dysplasia 18 with polydactylyEnrichmentIFT432.40
36Oocyte/zygote/embryo maturation arrest 24EnrichmentTUBA1C2.40
37Biliary, renal, neurologic, and skeletal syndromeEnrichmentIFT562.40
38Spermatogenic failure 72EnrichmentWDR192.40
39Short-rib thoracic dysplasia 5 with or without polydactylyEnrichmentWDR192.40
40Cortical dysplasia, complex, with other brain malformations 7EnrichmentTUBB2B2.40
41Cranioectodermal dysplasia 3EnrichmentIFT432.40
42Retinitis pigmentosa 89EnrichmentKIF3B2.40
43Oocyte/zygote/embryo maturation arrest 23EnrichmentTUBA4A2.40
44Nephronophthisis 13EnrichmentWDR192.40
45Frontotemporal dementia and/or amyotrophic lateral sclerosis 9EnrichmentTUBA4A2.40
46Retinitis pigmentosa 81EnrichmentIFT432.40
47Short-rib thoracic dysplasia 8 with or without polydactylyEnrichmentDYNC2I12.40
48Senior-loken syndrome 9EnrichmentTRAF3IP12.40
49Short-rib thoracic dysplasia 16 with or without polydactylyEnrichmentIFT522.40
50Facial palsy, congenital, with ptosis and velopharyngeal dysfunctionEnrichmentTUBB62.40
51Short-rib thoracic dysplasia 19 with or without polydactylyEnrichmentIFT812.40
52Joubert syndrome 40EnrichmentIFT742.40
53Spermatogenic failure 58EnrichmentIFT742.40
54Lung diseaseEnrichmentDYNC2H12.40
55Lissencephaly due to tuba1a mutationEnrichmentTUBA1A2.40
56Congenital myopathy 26EnrichmentTUBA4A2.40
57Spastic ataxia 11, autosomal dominantEnrichmentTUBA4A2.40
58Amyotrophic lateral sclerosis type 22EnrichmentTUBA4A2.40
59Dystonia 4, torsion, autosomal dominantEnrichmentTUBB4A2.10
60Short-rib thoracic dysplasia 2 with or without polydactylyEnrichmentIFT802.10
61Muscular dystrophy, limb-girdle, autosomal recessive 3EnrichmentTUBA1A2.10
62Short-rib thoracic dysplasia 17 with or without polydactylyEnrichmentDYNLT2B2.10
63Nephronophthisis 12EnrichmentTTC21B2.10
64Cranioectodermal dysplasia 2EnrichmentWDR352.10
65Short-rib thoracic dysplasia 4 with or without polydactylyEnrichmentTTC21B2.10
66Polycystic kidney disease 9EnrichmentIFT1402.10
67Sitosterolemia 2EnrichmentDYNC2LI12.10
68Keratoconus 9EnrichmentTUBA3D2.10
69Autosomal recessive limb-girdle muscular dystrophy type 2dEnrichmentTUBA1A2.10
70Cranioectodermal dysplasia 5EnrichmentIFT1402.10
71Lissencephaly 3EnrichmentTUBA1A2.10
72Short-rib thoracic dysplasia 15 with polydactylyEnrichmentDYNC2LI12.10
73Cortical dysplasia, complex, with other brain malformations 1EnrichmentTUBB32.10
74Short-rib thoracic dysplasia 7 with or without polydactylyEnrichmentWDR352.10
75Torsion dystonia 4EnrichmentTUBB4A2.10
76Continuous spikes and waves during sleepEnrichmentTUBA1A2.10
77Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 geneEnrichmentIFT1402.10
78Cerebral palsyEnrichmentTUBA1A, TUBB4A1.98
79Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing lossEnrichmentTUBB11.92
80Caroli disease, isolatedEnrichmentIFT561.92
81Nephronophthisis 2EnrichmentTTC21B1.92
82Leukodystrophy, hypomyelinating, 6EnrichmentTUBB4A1.92
83Sitosterolemia 1EnrichmentDYNC2LI11.92
84Bardet-biedl syndrome 19EnrichmentIFT271.92
85Short-rib thoracic dysplasia 11 with or without polydactylyEnrichmentDYNC2I21.92
86Cortical dysplasia, complex, with other brain malformations 5EnrichmentTUBB2A1.92
87Caroli diseaseEnrichmentIFT561.92
88SitosterolemiaEnrichmentDYNC2LI11.92
89Retinitis pigmentosa 80EnrichmentIFT1401.92
90Orofaciodigital syndrome iiiEnrichmentIFT1401.80
91Short-rib thoracic dysplasia 10 with or without polydactylyEnrichmentIFT1721.80
92Retinitis pigmentosa 71EnrichmentIFT1721.80
93Bardet-biedl syndrome 20EnrichmentIFT1721.80
94Newborn respiratory distress syndromeEnrichmentDYNC2H11.80
95Joubert syndrome 1EnrichmentCLUAP1, IFT1721.77
96Joubert syndrome with jeune asphyxiating thoracic dystrophyEnrichmentIFT1401.70
97Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1EnrichmentTUBB2B1.63
98Early myoclonic encephalopathyEnrichmentTUBA1A1.63
99Spermatogenic failure 5EnrichmentIFT741.50
100Polycystic kidney disease 4 with or without polycystic liver diseaseEnrichmentDYNC2H11.50
101CryptorchidismEnrichmentTUBA1A1.50
102Infantile nephronophthisisEnrichmentTTC21B1.50
103Nephrotic syndrome, type 1EnrichmentTTC21B1.45
104Cryptorchidism, unilateral or bilateralEnrichmentTUBA1A1.45
105Ellis-van creveld syndromeEnrichmentDYNC2LI11.45
106Cystic kidney diseaseEnrichmentIFT1401.45
107Autosomal dominant macrothrombocytopeniaEnrichmentTUBB11.41
108Primary bone dysplasiaEnrichmentDYNC2H11.41
109OsteochondrodysplasiaEnrichmentDYNC2H11.37
110Congenital hypothyroidismEnrichmentTUBB11.33
111Corpus callosum, agenesis ofEnrichmentTUBA1A1.24
112HydrocephalusEnrichmentIFT561.24
113Autosomal dominant polycystic kidney diseaseEnrichmentIFT1401.24
114Isolated corpus callosum agenesisEnrichmentTUBA1A1.24
115Intellectual disability-hypoplastic corpus callosum-preauricular tag syndromeEnrichmentTUBA1A1.24
116Dandy-walker syndromeEnrichmentTUBA1A1.18
117Congenital nervous system abnormalityEnrichmentTUBA1A, TUBB4A1.18
118Nervous system diseaseEnrichmentTUBA1A, TUBB4A1.18
119Heart, malformation ofEnrichmentDYNC2H11.16
120Polycystic kidney diseaseEnrichmentIFT1401.16
121Cone dystrophyEnrichmentWDR191.04
122Auditory neuropathyEnrichmentTUBB4A1.01
123Isolated joubert syndromeEnrichmentIFT740.95
124Fetal akinesia deformation sequence 1EnrichmentTUBA1A0.86
125EpilepsyEnrichmentTTC21B0.83
126Nephrotic syndromeEnrichmentTTC21B0.80
127Optic atrophy plus syndromeEnrichmentTUBB60.79
128West syndromeEnrichmentTUBA1A0.79
129ThrombocytopeniaEnrichmentTUBB10.76
130Spastic ataxiaEnrichmentTUBB30.72
131Cone-rod dystrophy 2EnrichmentIFT810.62
132MicrocephalyEnrichmentTUBB4A0.41

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