PI Metabolism

Pathway network for the PI Metabolism SuperPath

Sources:
  • Reactome
  • WikiPathways

Pathways in the PI Metabolism SuperPath

#NameSourceGenes
1PI MetabolismReactome
2Synthesis of PIPs at the plasma membraneReactome
3Phosphoinositides metabolismWikiPathways
4Synthesis of PIPs at the Golgi membraneReactome
5Synthesis of PIPs at the early endosome membraneReactome
6Synthesis of PIPs at the late endosome membraneReactome
7Glycerophospholipid catabolismReactome
8Synthesis of PIPs at the ER membraneReactome
9PI and PC transport between ER and Golgi membranesReactome

Gene overlap in member pathways for PI Metabolism SuperPath

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

Disorders associated with PI Metabolism SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Yunis-varon syndromeEnrichmentFIG4, VAC146.22
2Charcot-marie-tooth disease type 4EnrichmentFIG4, MTMR2, SBF1, SBF25.41
3Spermatogenic failure 17EnrichmentPIK3C2G, PLCZ14.89
4Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentPIK3CA, PIK3R14.35
5Immunodeficiency 14a with lymphoproliferation, autosomal dominantEnrichmentPIK3CD, PIK3R14.35
6Immunodeficiency 14EnrichmentPIK3CD, PIK3R14.35
7Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentPIK3CA, PIK3R24.05
8HemimegalencephalyEnrichmentPIK3CA, PTEN3.90
9Cowden syndrome 1EnrichmentPIK3CA, PTEN3.72
10Charcot-marie-tooth disease type 4b1EnrichmentMTMR23.43
11Charcot-marie-tooth disease, demyelinating, type 4b1EnrichmentMTMR23.43
12Spastic paraplegia 84, autosomal recessiveEnrichmentPI4KA3.43
13Gastrointestinal defects and immunodeficiency syndrome 2EnrichmentPI4KA3.43
14Pi4ka-related disorderEnrichmentPI4KA3.43
15Cowden syndromeEnrichmentPIK3CA, PTEN3.34
16Laurence-moon syndromeEnrichmentPNPLA63.29
17Oliver-mcfarlane syndromeEnrichmentPNPLA63.29
18Boucher-neuhauser syndromeEnrichmentPNPLA63.29
19Spastic paraplegia 39, autosomal recessiveEnrichmentPNPLA63.29
20Autosomal non-syndromic agammaglobulinemiaEnrichmentPIK3CD, PIK3R13.18
21Neurodevelopmental disorder with spasticity, hypomyelinating leukodystrophy, and brain abnormalitiesEnrichmentPI4KA3.13
22Combined immunodeficiency-multiple intestinal atresiaEnrichmentPI4KA3.13
23Corneal dystrophy, fleckEnrichmentPIKFYVE3.09
24Polymicrogyria, bilateral temporooccipitalEnrichmentFIG43.09
25Oculoskeletodental syndromeEnrichmentPIK3C2A3.09
26Amyotrophic lateral sclerosis 11EnrichmentFIG43.09
27Charcot-marie-tooth disease, demyelinating, type 4jEnrichmentFIG43.09
28Charcot-marie-tooth disease type 4jEnrichmentFIG43.09
29Oculocerebrodental syndromeEnrichmentPIK3C2A3.09
30Qualitative or quantitative defects of myotubularinEnrichmentMTM13.09
31MeningiomaEnrichmentPIK3CA, PTEN3.08
32Gordon holmes syndromeEnrichmentPNPLA62.99
33Heparin cofactor ii deficiencyEnrichmentPI4KA2.96
34Charcot-marie-tooth disease, demyelinating, type 4b3EnrichmentSBF12.96
35Charcot-marie-tooth disease type 4b3EnrichmentSBF12.96
36Neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speechEnrichmentINPP4A2.93
37Lowe oculocerebrorenal syndromeEnrichmentOCRL2.88
38Impaired intellectual development, truncal obesity, retinal dystrophy, and micropenis syndromeEnrichmentINPP5E2.88
39Deafness, autosomal dominant 87EnrichmentPI4KB2.88
40Striatonigral degeneration, childhood-onsetEnrichmentVAC142.79
41Respiratory system diseaseEnrichmentMTM12.79
42X-linked myotubular myopathy-abnormal genitalia syndromeEnrichmentMTM12.79
43Pectus excavatumEnrichmentARF3, INPP4A2.70
44Charcot-marie-tooth diseaseEnrichmentFIG4, SBF1, SBF22.69
45Interstitial nephritis, karyomegalicEnrichmentMTMR102.63
46Neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalitiesEnrichmentPI4K2A2.63
47Myopathy, centronuclear, x-linkedEnrichmentMTM12.61
48Endometrial cancerEnrichmentPIK3CA, PTEN2.59
49Hypogonadotropic hypogonadism 1 with or without anosmiaEnrichmentPNPLA62.59
50Dent disease 2EnrichmentOCRL2.58
51Periventricular nodular heterotopia 8EnrichmentARF12.58
52Short femurEnrichmentINPP5E2.58
53Bilateral perisylvian polymicrogyriaEnrichmentPI4KA2.48
54MacrodactylyEnrichmentPIK3CA2.44
55Vacterl association with hydrocephalusEnrichmentPTEN2.44
56Megalencephaly, autosomal dominantEnrichmentPIK3CA2.44
57Nail disorder, nonsyndromic congenital, 3EnrichmentPLCD12.44
58Cowden syndrome 5EnrichmentPIK3CA2.44
59Cerebral cavernous malformations 4EnrichmentPIK3CA2.44
60Spondylometaphyseal dysplasia with corneal dystrophyEnrichmentPLCB32.44
61Immune dysregulation, autoimmunity, and autoinflammationEnrichmentPLCG12.44
62Auriculocondylar syndrome 2aEnrichmentPLCB42.44
63Papillary tumor of the pineal regionEnrichmentPTEN2.44
64Hemifacial myohyperplasiaEnrichmentPIK3CA2.44
65Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowthEnrichmentPIK3CA2.44
66Autoinflammation, antibody deficiency, and immune dysregulationEnrichmentPLCG22.44
67Immunodeficiency 14b, autosomal recessiveEnrichmentPIK3CD2.44
68Immunodeficiency 97 with autoinflammationEnrichmentPIK3CG2.44
69Glioma susceptibility 2EnrichmentPTEN2.44
70Familial cold autoinflammatory syndrome 3EnrichmentPLCG22.44
71Holoprosencephaly 14EnrichmentPLCH12.44
72Segmental progressive overgrowth syndrome with fibroadipose hyperplasiaEnrichmentPIK3CA2.44
73Auriculocondylar syndrome 2bEnrichmentPLCB42.44
74HypospadiasEnrichmentPIK3CA2.44
75Rare venous malformationEnrichmentPIK3CA2.44
76Diaphragmatic eventrationEnrichmentPIK3CA2.44
77Pik3ca-related overgrowth spectrumEnrichmentPIK3CA2.44
78Rare combined vascular malformationEnrichmentPIK3CA2.44
79Cavernous lymphangiomaEnrichmentPIK3CA2.44
80Pik3ca-related overgrowth syndromeEnrichmentPIK3CA2.44
81Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndromeEnrichmentPTEN2.44
82Hemihyperplasia-multiple lipomatosis syndromeEnrichmentPIK3CA2.44
83Eccrine angiomatous hamartomaEnrichmentPIK3CA2.44
84Macrodactyly of toeEnrichmentPIK3CA2.44
85Ataxia-oculomotor apraxia 3EnrichmentPIK3R52.41
86Developmental and epileptic encephalopathy 53EnrichmentSYNJ12.41
87Short syndromeEnrichmentPIK3R12.41
88Immunodeficiency 36 with lymphoproliferationEnrichmentPIK3R12.41
89Agammaglobulinemia 7, autosomal recessiveEnrichmentPIK3R12.41
90Muscular dystrophy, congenital, with cataracts and impaired intellectual developmentEnrichmentINPP5K2.41
91Uvula, bifidEnrichmentARF32.40
92Dent diseaseEnrichmentOCRL2.40
93Interstitial lung diseaseEnrichmentINPP5E2.40
94KyphosisEnrichmentARF32.40
95Respiratory failureEnrichmentINPP5E2.40
96Pseudovaginal perineoscrotal hypospadiasEnrichmentFIG42.39
97Bladder cancerEnrichmentPIK3CA, PTEN2.31
98Prostate cancerEnrichmentPIK3CA, PTEN2.31
99Coach syndrome 1EnrichmentINPP5E2.18
100Joubert syndrome with ocular defectEnrichmentINPP5E2.18
101Dyskeratosis congenita, autosomal dominant 1EnrichmentINPP4A2.15
102Hypogonadotropic hypogonadism 7 with or without anosmiaEnrichmentPNPLA62.14
103Lethal congenital contracture syndrome 3EnrichmentPIP5K1C2.14
104Keratosis, seborrheicEnrichmentPIK3CA2.14
105Neutrophilia, hereditaryEnrichmentPIP4K2B2.14
106Roifman-chitayat syndromeEnrichmentPIK3CD2.14
107Noonan syndrome 8EnrichmentPIK3CA2.14
108Neutropenia, severe congenital, 7, autosomal recessiveEnrichmentPIP4K2B2.14
109Rosette-forming glioneuronal tumorEnrichmentPIK3CA2.14
110Severe congenital neutropenia 7EnrichmentPIP4K2B2.14
111Ocular melanomaEnrichmentPLCB42.14
112Intellectual developmental disorder, autosomal dominant 60, with seizuresEnrichmentPIP5K1A2.14
113Immune system diseaseEnrichmentPIK3CD2.14
114B-lymphoblastic leukemia/lymphoma with hyperdiploidyEnrichmentPIP4K2A2.14
115Vacterl with hydrocephalusEnrichmentPTEN2.14
116Juvenile polyposis of infancyEnrichmentPTEN2.14
117Schneckenbecken dysplasiaEnrichmentINPPL12.11
118Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2EnrichmentPIK3R52.11
119Parkinson disease 20, early-onsetEnrichmentSYNJ12.11
120Patent ductus arteriosusEnrichmentINPP5E2.10
121Dyskeratosis congenita, autosomal dominant 2EnrichmentINPP4A2.08
122Gastric cancerEnrichmentPIK3CA, PTEN1.98
123Pompe disease, infantile-onsetEnrichmentPIK3CA1.97
124Nephrotic syndrome, type 3EnrichmentPLCE11.97
125Laryngeal squamous cell carcinomaEnrichmentPTEN1.97
126KeratoacanthomaEnrichmentPIK3CA1.97
127Hereditary breast carcinomaEnrichmentPIK3CA, PTEN1.96
128OpsismodysplasiaEnrichmentINPPL11.93
129Atypical juvenile parkinsonismEnrichmentSYNJ11.93
130Kallmann syndromeEnrichmentPNPLA61.93
131Congenital myopathy 4a, autosomal dominantEnrichmentMTM11.92
132Primary bone dysplasiaEnrichmentINPP5E1.88
133Auriculocondylar syndrome 1EnrichmentPLCB41.84
134Charcot-marie-tooth disease, demyelinating, type 4b2EnrichmentSBF21.84
135Developmental and epileptic encephalopathy 12EnrichmentPLCB11.84
136Charcot-marie-tooth disease type 4b2EnrichmentSBF21.84
137Cerebrovascular diseaseEnrichmentPIK3CA1.84
138Familial cerebral cavernous malformationsEnrichmentPIK3CA1.84
139GliomaEnrichmentPTEN1.84
140OsteochondrodysplasiaEnrichmentINPP5E1.84
141Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentPIK3R21.81
142Centronuclear myopathyEnrichmentMTM11.77
143Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactylyEnrichmentINPP5E1.77
144ClubfootEnrichmentINPP5E1.77
145Capillary malformations, congenitalEnrichmentPIK3CA1.75
146Macrocephaly/autism syndromeEnrichmentPTEN1.75
147HemangiomaEnrichmentPTEN1.75
148Acute megakaryocytic leukemiaEnrichmentPTEN1.75
149Periventricular nodular heterotopiaEnrichmentARF11.73
150Hereditary spastic paraplegiaEnrichmentPNPLA61.67
151Klippel-trenaunay-weber syndromeEnrichmentPIK3CA1.67
152Melanoma, uvealEnrichmentPLCB41.67
153Hemihyperplasia, isolatedEnrichmentPIK3CA1.67
154Breast adenocarcinomaEnrichmentPIK3CA1.67
155Lung squamous cell carcinomaEnrichmentPIK3CA1.67
156Cleft palate, isolatedEnrichmentINPP5E1.65
157Myopathy, centronuclear, 1EnrichmentMTMR141.63
158Cleft lip with or without cleft palateEnrichmentPLEKHA51.63
159Heart, malformation ofEnrichmentARF31.63
160Nevus, epidermalEnrichmentPIK3CA1.60
161Thyroid cancer, nonmedullary, 2EnrichmentPTEN1.60
162Squamous cell carcinoma, head and neckEnrichmentPTEN1.60
163Capillary malformation-arteriovenous malformation 1EnrichmentPIK3CA1.60
164Gallbladder cancerEnrichmentPIK3CA1.60
165Follicular thyroid carcinomaEnrichmentPTEN1.60
166Overgrowth syndromeEnrichmentPIK3R11.57
167Spastic ataxiaEnrichmentPNPLA61.57
168Breast cancerEnrichmentPIK3CA, PTEN1.52
169ScoliosisEnrichmentARF31.50
170MyopathyEnrichmentMTM11.50
171Nephrotic syndrome, type 1EnrichmentPLCE11.49
172Developmental and epileptic encephalopathy 14EnrichmentPLCB11.49
173Arteriovenous malformationEnrichmentPIK3CA1.49
174Adult hepatocellular carcinomaEnrichmentPIK3CA1.49
175Myopathy, x-linked, with excessive autophagyEnrichmentPIK3CA1.45
176MelanomaEnrichmentPTEN1.45
177Meningioma, familialEnrichmentPTEN1.41
178Lung non-small cell carcinomaEnrichmentPIK3CA1.41
179Uterine corpus cancerEnrichmentPTEN1.41
180Isolated joubert syndromeEnrichmentINPP5E1.41
181Autism spectrum disorderEnrichmentSBF11.40
182Lip and oral cavity carcinomaEnrichmentPIK3CA1.37
183Colorectal cancerEnrichmentPIK3CA, PIK3R11.34
184DystoniaEnrichmentARF31.34
185Early-onset parkinson's diseaseEnrichmentSYNJ11.34
186Nk-cell enteropathyEnrichmentPIK3CB1.34
187Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentFIG41.34
188Ovarian cancerEnrichmentPIK3CA, PTEN1.29
189Lynch syndromeEnrichmentPIK3CA1.28
190RhabdomyosarcomaEnrichmentPTEN1.25
191Alobar holoprosencephalyEnrichmentPLCH11.22
192Joubert syndrome 1EnrichmentINPP5E1.19
193Autosomal dominant non-syndromic intellectual disabilityEnrichmentARF31.19
194Diffuse large b-cell lymphomaEnrichmentPTEN1.18
195Focal segmental glomerulosclerosisEnrichmentPLCE11.16
196Hepatocellular carcinomaEnrichmentPIK3CA1.12
197AutismEnrichmentARF31.04
198Developmental and epileptic encephalopathy 1EnrichmentSYNJ11.03
199Retinitis pigmentosaEnrichmentPNPLA60.98
200Lung cancerEnrichmentPIK3CA0.96
201Genetic steroid-resistant nephrotic syndromeEnrichmentPLCE10.94
202Leber plus diseaseEnrichmentINPP5E0.92
203MicrocephalyEnrichmentINPP4A0.87
204Benign epilepsy with centrotemporal spikesEnrichmentPLCB10.86
205Hereditary retinal dystrophyEnrichmentPNPLA60.85
206Fundus dystrophyEnrichmentPNPLA60.85
207Centralopathic epilepsyEnrichmentPLCB10.84
208Nephrotic syndromeEnrichmentPLCE10.84
209West syndromeEnrichmentPLCB10.83
210HypertelorismEnrichmentPIK3CA0.76
211Hereditary breast ovarian cancer syndromeEnrichmentPTEN0.74
212Myeloma, multipleEnrichmentPIK3R20.71
213Undetermined early-onset epileptic encephalopathyEnrichmentSYNJ10.71
214Congenital nervous system abnormalityEnrichmentPTEN0.50
215Nervous system diseaseEnrichmentPTEN0.50
216Inherited cancer-predisposing syndromeEnrichmentPTEN0.42

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