Glycerophospholipid biosynthesis

Pathway network for the Glycerophospholipid biosynthesis SuperPath

Sources:
  • Reactome
  • PubChem
  • WikiPathways

Pathways in the Glycerophospholipid biosynthesis SuperPath

#NameSourceGenes
1Glycerophospholipid biosynthesisReactome
2Phospholipid metabolismReactome
3Synthesis of PAReactome
4CDP-diacylglycerol biosynthesisPubChem
5Acyl chain remodelling of PGReactome
6Acyl chain remodelling of PIReactome
7Kennedy pathway from sphingolipidsWikiPathways
8Synthesis of PEReactome
9Hydrolysis of LPCReactome
10Synthesis of PGReactome
11Acyl chain remodeling of DAG and TAGReactome
12Acyl chain remodeling of CLReactome
13phosphatidylcholine biosynthesisPubChem
14Synthesis of PIReactome
15CDP-diacylglycerol biosynthesis IPubChem
16phosphatidylcholine biosynthesis IPubChem
17glycerol-3-phosphate shuttlePubChem
18Hydrolysis of LPEReactome
19Synthesis of PSReactome
20phosphatidylinositol biosynthesis II (eukaryotes)PubChem
21phosphatidylserine biosynthesis IPubChem

Gene overlap in member pathways for Glycerophospholipid biosynthesis SuperPath

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

Disorders associated with Glycerophospholipid biosynthesis SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Mitochondrial trifunctional protein deficiency 1EnrichmentHADHA, HADHB6.31
2Mitochondrial trifunctional protein deficiencyEnrichmentHADHA, HADHB6.31
3Charcot-marie-tooth disease type 4EnrichmentFIG4, MTMR2, PLD3, SBF1, SBF25.19
4Lenz-majewski hyperostotic dwarfismEnrichmentPTDSS14.13
5Hypertriglyceridemia, transient infantileEnrichmentGPD13.83
6Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizuresEnrichmentCHKA3.66
7Yunis-varon syndromeEnrichmentFIG4, VAC143.61
8Transient infantile hypertriglyceridemia and hepatosteatosisEnrichmentGPD13.53
9Cone-rod dystrophy 5EnrichmentPITPNM33.43
10Lipodystrophy, congenital generalized, type 1EnrichmentAGPAT23.43
11Spondylometaphyseal dysplasia with cone-rod dystrophyEnrichmentPCYT1A3.35
12Lipodystrophy, congenital generalized, type 5EnrichmentPCYT1A3.35
13Osteopetrosis and infantile neuroaxonal dystrophyEnrichmentPLA2G63.35
14Neurodegeneration with brain iron accumulation 2aEnrichmentPLA2G63.35
15Parkinson disease 14, autosomal recessiveEnrichmentPLA2G63.35
16Neurodegeneration with brain iron accumulation 2bEnrichmentPLA2G63.35
17Cytosolic phospholipase-a2 alpha deficiency associated bleeding disorderEnrichmentPLA2G4A3.35
18Gastrointestinal ulceration, recurrent, with dysfunctional plateletsEnrichmentPLA2G4A3.35
19Mitochondrial trifunctional protein deficiency 2EnrichmentHADHB3.35
20Acute fatty liver of pregnancyEnrichmentHADHA3.35
21Cryptogenic multifocal ulcerous stenosing enteritisEnrichmentPLA2G4A3.35
22Proximal myopathy with focal depletion of mitochondriaEnrichmentCHKB3.35
23Autosomal dominant charcot-marie-tooth disease type 2 due to dgat2 mutationEnrichmentDGAT23.29
24Primary triglyceride deposit cardiomyovasculopathyEnrichmentPNPLA23.29
25Cardiac valvular dysplasia 1EnrichmentPLD13.23
26Systemic lupus erythematosus 18EnrichmentPLD43.23
27Neurodevelopmental disorder with ataxia and brain abnormalitiesEnrichmentPTPMT13.23
28Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentPIK3CA, PIK3R13.14
29Immunodeficiency 14a with lymphoproliferation, autosomal dominantEnrichmentPIK3CD, PIK3R13.14
30Immunodeficiency 14EnrichmentPIK3CD, PIK3R13.14
31Infantile osteopetrosis with neuroaxonal dysplasiaEnrichmentPLA2G63.05
32Majeed syndromeEnrichmentLPIN23.02
33Spastic paraplegia 81, autosomal recessiveEnrichmentSELENOI3.02
34Neutral lipid storage disease with myopathyEnrichmentPNPLA22.99
35Reni syndromeEnrichmentSGPL12.99
36Charcot-marie-tooth disease, demyelinating, type 4fEnrichmentPLD32.93
37Spinocerebellar ataxia 46EnrichmentPLD32.93
38Charcot-marie-tooth disease type 4fEnrichmentPLD32.93
39Fleck retina, familial benignEnrichmentPLA2G52.90
40Intellectual developmental disorder, autosomal recessive 57EnrichmentMBOAT72.90
41Lipodystrophy, familial partial, type 9EnrichmentPLAAT32.90
42Familial benign flecked retinaEnrichmentPLA2G52.90
43Barth syndromeEnrichmentTAFAZZIN2.88
44Long-chain 3-hydroxyacyl-coa dehydrogenase deficiencyEnrichmentHADHA2.88
45Combined oxidative phosphorylation deficiency 57EnrichmentCRLS12.88
46Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentPIK3CA, PIK3R22.85
47Congenital generalized lipodystrophyEnrichmentAGPAT22.83
48Muscular dystrophy, congenital, megaconial typeEnrichmentCHKB2.75
49Spastic paraplegia 82, autosomal recessiveEnrichmentPCYT22.72
50Liberfarb syndromeEnrichmentPISD2.72
51Diarrhea 7, protein-losing enteropathy typeEnrichmentDGAT12.69
52HemimegalencephalyEnrichmentPIK3CA, PTEN2.63
53Congenital diarrhea 7 with exudative enteropathyEnrichmentDGAT12.59
54Chanarin-dorfman syndromeEnrichmentABHD52.58
55Myoglobinuria, acute recurrent, autosomal recessiveEnrichmentLPIN12.54
56Rhizomelic chondrodysplasia punctata, type 2EnrichmentGNPAT2.54
57Brugada syndrome 2EnrichmentGPD1L2.54
58Hypotrichosis 7EnrichmentLIPH2.54
59Spastic paraplegia 28, autosomal recessiveEnrichmentDDHD12.54
60Spastic paraplegia 54, autosomal recessiveEnrichmentDDHD22.54
61Alpi-related inflammatory bowel diseaseEnrichmentALPI2.54
62DiarrheaEnrichmentDGAT12.51
63Cowden syndrome 1EnrichmentPIK3CA, PTEN2.46
64Charcot-marie-tooth diseaseEnrichmentFIG4, PLD3, SBF1, SBF22.43
65Late-onset retinal degenerationEnrichmentPLA2G52.43
66Hereditary recurrent myoglobinuriaEnrichmentLPIN12.42
67Male infertilityEnrichmentGPAT2, PLD62.37
68Neurodegeneration with brain iron accumulationEnrichmentPLA2G62.35
69Type 2 diabetes mellitusEnrichmentGPD22.21
70Hereditary spastic paraplegiaEnrichmentDDHD1, DDHD22.19
71Arteriovenous malformations of the brainEnrichmentPITPNM32.16
72Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delayEnrichmentPLA2G62.15
73Cowden syndromeEnrichmentPIK3CA, PTEN2.09
74Cone dystrophyEnrichmentPITPNM32.05
75Apnea, central sleepEnrichmentCHAT2.02
76Mitochondrial myopathy with lactic acidosisEnrichmentPNPLA82.02
77Epilepsy, familial adult myoclonic, 2EnrichmentSTARD72.02
78Yt blood group antigenEnrichmentACHE2.02
79Cataract 38EnrichmentAGK2.02
80Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalitiesEnrichmentMFSD2A2.02
81Butyrylcholinesterase deficiencyEnrichmentBCHE2.02
82Okur-chung neurodevelopmental syndromeEnrichmentCSNK2A12.02
83Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive declineEnrichmentSLC44A12.02
84Deafness, autosomal dominant 72EnrichmentSLC44A42.02
85Aspiration pneumoniaEnrichmentCHAT2.02
86Craniodigital syndrome and intellectual disability syndromeEnrichmentCSNK2B2.02
87Autosomal non-syndromic agammaglobulinemiaEnrichmentPIK3CD, PIK3R12.00
88Muscular dystrophyEnrichmentCHKB1.98
89Generalized epilepsyEnrichmentDDHD21.94
90Rhizomelic chondrodysplasia punctataEnrichmentGNPAT1.94
91Pectus excavatumEnrichmentARF3, INPP4A1.91
92Familial colorectal cancerEnrichmentPLA2G2A1.90
93Autosomal recessive non-syndromic intellectual disabilityEnrichmentCHKA1.89
94Familial woolly hair syndromeEnrichmentLIPH1.84
95MeningiomaEnrichmentPIK3CA, PTEN1.84
96Left ventricular noncompactionEnrichmentTAFAZZIN1.81
97MacrodactylyEnrichmentPIK3CA1.81
98Corneal dystrophy, fleckEnrichmentPIKFYVE1.81
99Laurence-moon syndromeEnrichmentPNPLA61.81
100Vacterl association with hydrocephalusEnrichmentPTEN1.81
101Oliver-mcfarlane syndromeEnrichmentPNPLA61.81
102Polymicrogyria, bilateral temporooccipitalEnrichmentFIG41.81
103Megalencephaly, autosomal dominantEnrichmentPIK3CA1.81
104Cowden syndrome 5EnrichmentPIK3CA1.81
105Boucher-neuhauser syndromeEnrichmentPNPLA61.81
106Ataxia-oculomotor apraxia 3EnrichmentPIK3R51.81
107Developmental and epileptic encephalopathy 53EnrichmentSYNJ11.81
108Cerebral cavernous malformations 4EnrichmentPIK3CA1.81
109Short syndromeEnrichmentPIK3R11.81
110Charcot-marie-tooth disease type 4b1EnrichmentMTMR21.81
111Oculoskeletodental syndromeEnrichmentPIK3C2A1.81
112Neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speechEnrichmentINPP4A1.81
113Lowe oculocerebrorenal syndromeEnrichmentOCRL1.81
114Charcot-marie-tooth disease, demyelinating, type 4b1EnrichmentMTMR21.81
115Amyotrophic lateral sclerosis 11EnrichmentFIG41.81
116Papillary tumor of the pineal regionEnrichmentPTEN1.81
117Charcot-marie-tooth disease, demyelinating, type 4jEnrichmentFIG41.81
118Hemifacial myohyperplasiaEnrichmentPIK3CA1.81
119Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowthEnrichmentPIK3CA1.81
120Impaired intellectual development, truncal obesity, retinal dystrophy, and micropenis syndromeEnrichmentINPP5E1.81
121Immunodeficiency 36 with lymphoproliferationEnrichmentPIK3R11.81
122Immunodeficiency 14b, autosomal recessiveEnrichmentPIK3CD1.81
123Spastic paraplegia 39, autosomal recessiveEnrichmentPNPLA61.81
124Agammaglobulinemia 7, autosomal recessiveEnrichmentPIK3R11.81
125Immunodeficiency 97 with autoinflammationEnrichmentPIK3CG1.81
126Glioma susceptibility 2EnrichmentPTEN1.81
127Muscular dystrophy, congenital, with cataracts and impaired intellectual developmentEnrichmentINPP5K1.81
128Spastic paraplegia 84, autosomal recessiveEnrichmentPI4KA1.81
129Charcot-marie-tooth disease type 4jEnrichmentFIG41.81
130Segmental progressive overgrowth syndrome with fibroadipose hyperplasiaEnrichmentPIK3CA1.81
131Deafness, autosomal dominant 87EnrichmentPI4KB1.81
132HypospadiasEnrichmentPIK3CA1.81
133Rare venous malformationEnrichmentPIK3CA1.81
134Diaphragmatic eventrationEnrichmentPIK3CA1.81
135Pik3ca-related overgrowth spectrumEnrichmentPIK3CA1.81
136Rare combined vascular malformationEnrichmentPIK3CA1.81
137Gastrointestinal defects and immunodeficiency syndrome 2EnrichmentPI4KA1.81
138Cavernous lymphangiomaEnrichmentPIK3CA1.81
139Pik3ca-related overgrowth syndromeEnrichmentPIK3CA1.81
140Oculocerebrodental syndromeEnrichmentPIK3C2A1.81
141Qualitative or quantitative defects of myotubularinEnrichmentMTM11.81
142Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndromeEnrichmentPTEN1.81
143Hemihyperplasia-multiple lipomatosis syndromeEnrichmentPIK3CA1.81
144Eccrine angiomatous hamartomaEnrichmentPIK3CA1.81
145Macrodactyly of toeEnrichmentPIK3CA1.81
146Pi4ka-related disorderEnrichmentPI4KA1.81
147Bardet-biedl syndrome 10EnrichmentOSBPL81.72
148Poirier-bienvenu neurodevelopmental syndromeEnrichmentCSNK2B1.72
149Schizophrenia 19EnrichmentCPNE11.72
150Myasthenic syndrome, congenital, 21, presynapticEnrichmentCHAT1.72
151Leber plus diseaseEnrichmentPCYT1A1.68
152Autoinflammatory diseaseEnrichmentLPIN21.64
153Spastic ataxiaEnrichmentPLA2G61.63
154Familial isolated dilated cardiomyopathyEnrichmentTAFAZZIN1.63
155Cone-rod dystrophy 2EnrichmentPITPNM31.61
156Hypotrichosis simplexEnrichmentLIPH1.59
157MicrocephalyEnrichmentCHKA1.57
158Prognathism, mandibularEnrichmentCSNK2B1.55
159Sengers syndromeEnrichmentAGK1.55
160Myasthenic syndrome, congenital, 6, presynapticEnrichmentCHAT1.55
161Multicentric osteolysis, nodulosis, and arthropathyEnrichmentLPCAT21.55
162Bronchopulmonary dysplasiaEnrichmentCHAT1.55
163Gordon holmes syndromeEnrichmentPNPLA61.51
164Schneckenbecken dysplasiaEnrichmentINPPL11.51
165Lethal congenital contracture syndrome 3EnrichmentPIP5K1C1.51
166Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2EnrichmentPIK3R51.51
167Dent disease 2EnrichmentOCRL1.51
168Keratosis, seborrheicEnrichmentPIK3CA1.51
169Neutrophilia, hereditaryEnrichmentPIP4K2B1.51
170Roifman-chitayat syndromeEnrichmentPIK3CD1.51
171Neurodevelopmental disorder with spasticity, hypomyelinating leukodystrophy, and brain abnormalitiesEnrichmentPI4KA1.51
172Noonan syndrome 8EnrichmentPIK3CA1.51
173Spermatogenic failure 17EnrichmentPIK3C2G1.51
174Parkinson disease 20, early-onsetEnrichmentSYNJ11.51
175Neutropenia, severe congenital, 7, autosomal recessiveEnrichmentPIP4K2B1.51
176Periventricular nodular heterotopia 8EnrichmentARF11.51
177Interstitial nephritis, karyomegalicEnrichmentMTMR101.51
178Striatonigral degeneration, childhood-onsetEnrichmentVAC141.51
179Rosette-forming glioneuronal tumorEnrichmentPIK3CA1.51
180Severe congenital neutropenia 7EnrichmentPIP4K2B1.51
181Respiratory system diseaseEnrichmentMTM11.51
182Intellectual developmental disorder, autosomal dominant 60, with seizuresEnrichmentPIP5K1A1.51
183Immune system diseaseEnrichmentPIK3CD1.51
184B-lymphoblastic leukemia/lymphoma with hyperdiploidyEnrichmentPIP4K2A1.51
185Neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalitiesEnrichmentPI4K2A1.51
186Combined immunodeficiency-multiple intestinal atresiaEnrichmentPI4KA1.51
187Short femurEnrichmentINPP5E1.51
188Vacterl with hydrocephalusEnrichmentPTEN1.51
189X-linked myotubular myopathy-abnormal genitalia syndromeEnrichmentMTM11.51
190Juvenile polyposis of infancyEnrichmentPTEN1.51
191Dilated cardiomyopathyEnrichmentTAFAZZIN1.46
192Trichohepatoenteric syndrome 1EnrichmentAGK1.43
193EnophthalmosEnrichmentCSNK2B1.43
194SyndactylyEnrichmentCSNK2B1.43
195Endometrial cancerEnrichmentPIK3CA, PTEN1.38
196Nephrotic syndromeEnrichmentSGPL11.36
197Congenital nervous system abnormalityEnrichmentPLA2G61.34
198Nervous system diseaseEnrichmentPLA2G61.34
199OpsismodysplasiaEnrichmentINPPL11.34
200Pompe disease, infantile-onsetEnrichmentPIK3CA1.34
201Uvula, bifidEnrichmentARF31.34
202Myopathy, centronuclear, x-linkedEnrichmentMTM11.34
203Heparin cofactor ii deficiencyEnrichmentPI4KA1.34
204Charcot-marie-tooth disease, demyelinating, type 4b3EnrichmentSBF11.34
205Dent diseaseEnrichmentOCRL1.34
206Charcot-marie-tooth disease type 4b3EnrichmentSBF11.34
207Interstitial lung diseaseEnrichmentINPP5E1.34
208KyphosisEnrichmentARF31.34
209Laryngeal squamous cell carcinomaEnrichmentPTEN1.34
210Atypical juvenile parkinsonismEnrichmentSYNJ11.34
211Respiratory failureEnrichmentINPP5E1.34
212KeratoacanthomaEnrichmentPIK3CA1.34
213Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentPIK3R21.21
214Charcot-marie-tooth disease, demyelinating, type 4b2EnrichmentSBF21.21
215Charcot-marie-tooth disease type 4b2EnrichmentSBF21.21
216Cerebrovascular diseaseEnrichmentPIK3CA1.21
217Familial cerebral cavernous malformationsEnrichmentPIK3CA1.21
218GliomaEnrichmentPTEN1.21
219Brugada syndromeEnrichmentGPD1L1.14
220Gastroesophageal refluxEnrichmentCHAT1.13
221CryptorchidismEnrichmentMFSD2A1.13
222Bladder cancerEnrichmentPIK3CA, PTEN1.13
223Prostate cancerEnrichmentPIK3CA, PTEN1.13
224Capillary malformations, congenitalEnrichmentPIK3CA1.12
225Coach syndrome 1EnrichmentINPP5E1.12
226Hypogonadotropic hypogonadism 1 with or without anosmiaEnrichmentPNPLA61.12
227Pseudovaginal perineoscrotal hypospadiasEnrichmentFIG41.12
228Macrocephaly/autism syndromeEnrichmentPTEN1.12
229HemangiomaEnrichmentPTEN1.12
230Acute megakaryocytic leukemiaEnrichmentPTEN1.12
231Joubert syndrome with ocular defectEnrichmentINPP5E1.12
232Cryptorchidism, unilateral or bilateralEnrichmentMFSD2A1.08
233Dyskeratosis congenita, autosomal dominant 1EnrichmentINPP4A1.04
234Klippel-trenaunay-weber syndromeEnrichmentPIK3CA1.04
235Myopathy, centronuclear, 1EnrichmentMTMR141.04
236Hemihyperplasia, isolatedEnrichmentPIK3CA1.04
237Patent ductus arteriosusEnrichmentINPP5E1.04
238Breast adenocarcinomaEnrichmentPIK3CA1.04
239Lung squamous cell carcinomaEnrichmentPIK3CA1.04
240Cleft lip with or without cleft palateEnrichmentPLEKHA51.04
241Myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiencyEnrichmentCHAT1.04
242Autism spectrum disorderEnrichmentCSNK2A1, CSNK2B, PTEN, SBF11.04
243Presynaptic congenital myasthenic syndromesEnrichmentCHAT1.00
244Colorectal cancerEnrichmentPLA2G2A0.98
245Nevus, epidermalEnrichmentPIK3CA0.98
246Thyroid cancer, nonmedullary, 2EnrichmentPTEN0.98
247Squamous cell carcinoma, head and neckEnrichmentPTEN0.98
248Capillary malformation-arteriovenous malformation 1EnrichmentPIK3CA0.98
249Dyskeratosis congenita, autosomal dominant 2EnrichmentINPP4A0.98
250Gallbladder cancerEnrichmentPIK3CA0.98
251Follicular thyroid carcinomaEnrichmentPTEN0.98
252Overgrowth syndromeEnrichmentPIK3R10.98
253Lactic acidosisEnrichmentCHAT0.97
254Congenital myasthenic syndromeEnrichmentCHAT0.90
255Arteriovenous malformationEnrichmentPIK3CA0.88
256Adult hepatocellular carcinomaEnrichmentPIK3CA0.88
257Bilateral perisylvian polymicrogyriaEnrichmentPI4KA0.88
258Body mass index quantitative trait locus 11EnrichmentDDHD20.87
259Gastric cancerEnrichmentPIK3CA, PTEN0.84
260Myopathy, x-linked, with excessive autophagyEnrichmentPIK3CA0.84
261MelanomaEnrichmentPTEN0.84
262Primary bone dysplasiaEnrichmentINPP5E0.84
263Cataract 44EnrichmentAGK0.82
264Hereditary breast carcinomaEnrichmentPIK3CA, PTEN0.82
265Meningioma, familialEnrichmentPTEN0.80
266OsteochondrodysplasiaEnrichmentINPP5E0.80
267Lung non-small cell carcinomaEnrichmentPIK3CA0.80
268Uterine corpus cancerEnrichmentPTEN0.80
269Early-onset parkinson's diseaseEnrichmentSYNJ10.76
270Lip and oral cavity carcinomaEnrichmentPIK3CA0.76
271Autosomal dominant non-syndromic intellectual disabilityEnrichmentARF3, CSNK2B0.74
272Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactylyEnrichmentINPP5E0.73
273ClubfootEnrichmentINPP5E0.73
274Nk-cell enteropathyEnrichmentPIK3CB0.73
275Hypogonadotropic hypogonadism 7 with or without anosmiaEnrichmentPNPLA60.70
276Periventricular nodular heterotopiaEnrichmentARF10.70
277Congenital myopathy 4a, autosomal dominantEnrichmentMTM10.68
278Lynch syndromeEnrichmentPIK3CA0.68
279RhabdomyosarcomaEnrichmentPTEN0.65
280Cleft palate, isolatedEnrichmentINPP5E0.63
281Heart, malformation ofEnrichmentARF30.61
282Diffuse large b-cell lymphomaEnrichmentPTEN0.59
283Primary autosomal recessive microcephalyEnrichmentMFSD2A0.58
284Centronuclear myopathyEnrichmentMTM10.55
285Hepatocellular carcinomaEnrichmentPIK3CA0.53
286Kallmann syndromeEnrichmentPNPLA60.52
287ScoliosisEnrichmentARF30.50
288Developmental and epileptic encephalopathy 1EnrichmentSYNJ10.49
289Breast cancerEnrichmentPIK3CA, PTEN0.48
290Bardet-biedl syndromeEnrichmentOSBPL80.48
291Isolated joubert syndromeEnrichmentINPP5E0.42
292Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentSLC44A40.41
293Lung cancerEnrichmentPIK3CA0.40
294DystoniaEnrichmentARF30.37
295MyopathyEnrichmentMTM10.33
296Ovarian cancerEnrichmentPIK3CA, PTEN0.33
297West syndromeEnrichmentSYNJ10.30
298Joubert syndrome 1EnrichmentINPP5E0.26
299HypertelorismEnrichmentPIK3CA0.25
300Mitochondrial diseaseEnrichmentAGK0.25
301Hereditary breast ovarian cancer syndromeEnrichmentPTEN0.24
302Myeloma, multipleEnrichmentPIK3R20.23
303Undetermined early-onset epileptic encephalopathyEnrichmentSYNJ10.23
304Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentFIG40.22
305AutismEnrichmentARF30.17
306Complex neurodevelopmental disorderEnrichmentCSNK2A10.16
307Hereditary retinal dystrophyEnrichmentINPP5E, OSBPL8, PNPLA60.08
308Fundus dystrophyEnrichmentINPP5E, OSBPL8, PNPLA60.08
309Retinitis pigmentosaEnrichmentINPP5E, PNPLA60.07
310Inherited cancer-predisposing syndromeEnrichmentPTEN0.06

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