Synthesis of PC

No Pathway Network information available for Synthesis of PC

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

Disorders associated with Synthesis of PC SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Apnea, central sleepEnrichmentCHAT2.69
2Epilepsy, familial adult myoclonic, 2EnrichmentSTARD72.69
3Yt blood group antigenEnrichmentACHE2.69
4Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizuresEnrichmentCHKA2.69
5Proximal myopathy with focal depletion of mitochondriaEnrichmentCHKB2.69
6Majeed syndromeEnrichmentLPIN22.69
7Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalitiesEnrichmentMFSD2A2.69
8Butyrylcholinesterase deficiencyEnrichmentBCHE2.69
9Okur-chung neurodevelopmental syndromeEnrichmentCSNK2A12.69
10Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive declineEnrichmentSLC44A12.69
11Deafness, autosomal dominant 72EnrichmentSLC44A42.69
12Aspiration pneumoniaEnrichmentCHAT2.69
13Craniodigital syndrome and intellectual disability syndromeEnrichmentCSNK2B2.69
14Spondylometaphyseal dysplasia with cone-rod dystrophyEnrichmentPCYT1A2.38
15Poirier-bienvenu neurodevelopmental syndromeEnrichmentCSNK2B2.38
16Myasthenic syndrome, congenital, 21, presynapticEnrichmentCHAT2.38
17Lipodystrophy, congenital generalized, type 5EnrichmentPCYT1A2.38
18Prognathism, mandibularEnrichmentCSNK2B2.21
19Myasthenic syndrome, congenital, 6, presynapticEnrichmentCHAT2.21
20Myoglobinuria, acute recurrent, autosomal recessiveEnrichmentLPIN12.21
21Bronchopulmonary dysplasiaEnrichmentCHAT2.21
22Muscular dystrophy, congenital, megaconial typeEnrichmentCHKB2.08
23EnophthalmosEnrichmentCSNK2B2.08
24SyndactylyEnrichmentCSNK2B2.08
25Hereditary recurrent myoglobinuriaEnrichmentLPIN12.08
26Gastroesophageal refluxEnrichmentCHAT1.79
27CryptorchidismEnrichmentMFSD2A1.79
28Cryptorchidism, unilateral or bilateralEnrichmentMFSD2A1.73
29Myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiencyEnrichmentCHAT1.69
30Autism spectrum disorderEnrichmentCSNK2A1, CSNK2B1.68
31Presynaptic congenital myasthenic syndromesEnrichmentCHAT1.65
32Lactic acidosisEnrichmentCHAT1.61
33MicrocephalyEnrichmentCHKA, MFSD2A1.58
34Congenital myasthenic syndromeEnrichmentCHAT1.54
35Autoinflammatory diseaseEnrichmentLPIN21.31
36Muscular dystrophyEnrichmentCHKB1.31
37Primary autosomal recessive microcephalyEnrichmentMFSD2A1.19
38Autosomal dominant non-syndromic intellectual disabilityEnrichmentCSNK2B1.01
39Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentSLC44A40.99
40Autosomal recessive non-syndromic intellectual disabilityEnrichmentCHKA0.95
41Leber plus diseaseEnrichmentPCYT1A0.75
42Complex neurodevelopmental disorderEnrichmentCSNK2A10.64

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