3-phosphoinositide biosynthesis

No Pathway Network information available for 3-phosphoinositide biosynthesis

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

Disorders associated with 3-phosphoinositide biosynthesis SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentPIK3CA, PIK3R15.01
2Immunodeficiency 14a with lymphoproliferation, autosomal dominantEnrichmentPIK3CD, PIK3R15.01
3Immunodeficiency 14EnrichmentPIK3CD, PIK3R15.01
4Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentPIK3CA, PIK3R24.71
5Autosomal non-syndromic agammaglobulinemiaEnrichmentPIK3CD, PIK3R13.84
6MacrodactylyEnrichmentPIK3CA2.73
7Corneal dystrophy, fleckEnrichmentPIKFYVE2.73
8Polymicrogyria, bilateral temporooccipitalEnrichmentFIG42.73
9Megalencephaly, autosomal dominantEnrichmentPIK3CA2.73
10Cowden syndrome 5EnrichmentPIK3CA2.73
11Ataxia-oculomotor apraxia 3EnrichmentPIK3R52.73
12Cerebral cavernous malformations 4EnrichmentPIK3CA2.73
13Short syndromeEnrichmentPIK3R12.73
14Oculoskeletodental syndromeEnrichmentPIK3C2A2.73
15Amyotrophic lateral sclerosis 11EnrichmentFIG42.73
16Charcot-marie-tooth disease, demyelinating, type 4jEnrichmentFIG42.73
17Hemifacial myohyperplasiaEnrichmentPIK3CA2.73
18Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowthEnrichmentPIK3CA2.73
19Immunodeficiency 36 with lymphoproliferationEnrichmentPIK3R12.73
20Immunodeficiency 14b, autosomal recessiveEnrichmentPIK3CD2.73
21Agammaglobulinemia 7, autosomal recessiveEnrichmentPIK3R12.73
22Immunodeficiency 97 with autoinflammationEnrichmentPIK3CG2.73
23Spastic paraplegia 84, autosomal recessiveEnrichmentPI4KA2.73
24Charcot-marie-tooth disease type 4jEnrichmentFIG42.73
25Segmental progressive overgrowth syndrome with fibroadipose hyperplasiaEnrichmentPIK3CA2.73
26Deafness, autosomal dominant 87EnrichmentPI4KB2.73
27HypospadiasEnrichmentPIK3CA2.73
28Rare venous malformationEnrichmentPIK3CA2.73
29Diaphragmatic eventrationEnrichmentPIK3CA2.73
30Pik3ca-related overgrowth spectrumEnrichmentPIK3CA2.73
31Rare combined vascular malformationEnrichmentPIK3CA2.73
32Gastrointestinal defects and immunodeficiency syndrome 2EnrichmentPI4KA2.73
33Cavernous lymphangiomaEnrichmentPIK3CA2.73
34Pik3ca-related overgrowth syndromeEnrichmentPIK3CA2.73
35Oculocerebrodental syndromeEnrichmentPIK3C2A2.73
36Hemihyperplasia-multiple lipomatosis syndromeEnrichmentPIK3CA2.73
37Eccrine angiomatous hamartomaEnrichmentPIK3CA2.73
38Macrodactyly of toeEnrichmentPIK3CA2.73
39Pi4ka-related disorderEnrichmentPI4KA2.73
40Yunis-varon syndromeEnrichmentFIG42.43
41Lethal congenital contracture syndrome 3EnrichmentPIP5K1C2.43
42Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2EnrichmentPIK3R52.43
43Keratosis, seborrheicEnrichmentPIK3CA2.43
44Roifman-chitayat syndromeEnrichmentPIK3CD2.43
45Neurodevelopmental disorder with spasticity, hypomyelinating leukodystrophy, and brain abnormalitiesEnrichmentPI4KA2.43
46Noonan syndrome 8EnrichmentPIK3CA2.43
47Spermatogenic failure 17EnrichmentPIK3C2G2.43
48Rosette-forming glioneuronal tumorEnrichmentPIK3CA2.43
49Intellectual developmental disorder, autosomal dominant 60, with seizuresEnrichmentPIP5K1A2.43
50Immune system diseaseEnrichmentPIK3CD2.43
51Neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalitiesEnrichmentPI4K2A2.43
52Combined immunodeficiency-multiple intestinal atresiaEnrichmentPI4KA2.43
53Pompe disease, infantile-onsetEnrichmentPIK3CA2.26
54Heparin cofactor ii deficiencyEnrichmentPI4KA2.26
55KeratoacanthomaEnrichmentPIK3CA2.26
56Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentPIK3R22.13
57Cerebrovascular diseaseEnrichmentPIK3CA2.13
58Familial cerebral cavernous malformationsEnrichmentPIK3CA2.13
59Capillary malformations, congenitalEnrichmentPIK3CA2.04
60Pseudovaginal perineoscrotal hypospadiasEnrichmentFIG42.04
61HemimegalencephalyEnrichmentPIK3CA2.04
62Klippel-trenaunay-weber syndromeEnrichmentPIK3CA1.96
63Cowden syndrome 1EnrichmentPIK3CA1.96
64Hemihyperplasia, isolatedEnrichmentPIK3CA1.96
65Breast adenocarcinomaEnrichmentPIK3CA1.96
66Lung squamous cell carcinomaEnrichmentPIK3CA1.96
67Colorectal cancerEnrichmentPIK3CA, PIK3R11.96
68Nevus, epidermalEnrichmentPIK3CA1.89
69Capillary malformation-arteriovenous malformation 1EnrichmentPIK3CA1.89
70Gallbladder cancerEnrichmentPIK3CA1.89
71Overgrowth syndromeEnrichmentPIK3R11.89
72Arteriovenous malformationEnrichmentPIK3CA1.78
73Adult hepatocellular carcinomaEnrichmentPIK3CA1.78
74Bilateral perisylvian polymicrogyriaEnrichmentPI4KA1.78
75Cowden syndromeEnrichmentPIK3CA1.78
76Myopathy, x-linked, with excessive autophagyEnrichmentPIK3CA1.74
77Lung non-small cell carcinomaEnrichmentPIK3CA1.70
78MeningiomaEnrichmentPIK3CA1.66
79Lip and oral cavity carcinomaEnrichmentPIK3CA1.66
80Nk-cell enteropathyEnrichmentPIK3CB1.63
81Lynch syndromeEnrichmentPIK3CA1.56
82Charcot-marie-tooth disease type 4EnrichmentFIG41.49
83Endometrial cancerEnrichmentPIK3CA1.42
84Hepatocellular carcinomaEnrichmentPIK3CA1.40
85Bladder cancerEnrichmentPIK3CA1.28
86Prostate cancerEnrichmentPIK3CA1.28
87Lung cancerEnrichmentPIK3CA1.24
88Charcot-marie-tooth diseaseEnrichmentFIG41.14
89Gastric cancerEnrichmentPIK3CA1.12
90Hereditary breast carcinomaEnrichmentPIK3CA1.11
91HypertelorismEnrichmentPIK3CA1.04
92Myeloma, multipleEnrichmentPIK3R21.01
93Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentFIG40.99
94Breast cancerEnrichmentPIK3CA0.89
95Ovarian cancerEnrichmentPIK3CA0.77

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