Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
0.310 AlteredExpression BEFREE Family history revealed a sister aged 22 years with cerebral palsy and a healthy 15-year-old brother, who were both severely pigmented with high ACTH levels. 23708259

2013

Entrez Id: 23189
Gene Symbol: KANK1
KANK1
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
0.150 GeneticVariation BEFREE Deletion of the KANK1 gene (also called ANKRD15), located at chromosome position 9p24.3, has been associated with neurodevelopmental disease including congenital cerebral palsy, hypotonia, quadriplegia, and intellectual disability in a four-generation family. 23454270

2013

Entrez Id: 23189
Gene Symbol: KANK1
KANK1
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
0.150 GeneticVariation BEFREE These data led us to conclude that small deletions involving KANK1 do not cause a highly-penetrant influence of large effect size and they are unlikely to contribute significantly to the aetiology of disease in patients with development delay, intellectual disability, autism or cerebral palsy. 30684669

2020

Entrez Id: 23189
Gene Symbol: KANK1
KANK1
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
0.150 GeneticVariation BEFREE Previous studies have identified mutations in the actin-capping protein KANK1 and the adaptor protein-4 complex in forms of inherited cerebral palsy, suggesting a role for components of the dynamic cytoskeleton in the genesis of the disease. 23836506

2013

Entrez Id: 23189
Gene Symbol: KANK1
KANK1
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
0.150 Biomarker BEFREE After evaluation of our case series and reconsideration of the literature, we propose that KANK1 aberrations do not frequently cause CP but cannot exclude that they represent a risk factor for ASD, especially when the coding region of the shorter, alternate KANK1 transcript (termed "transcript 4" in the UCSC Genome Browser) is impacted. 29729439

2019

Entrez Id: 23189
Gene Symbol: KANK1
KANK1
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
0.150 GeneticVariation BEFREE Deletion of the ANKRD15 gene at 9p24.3 causes parent-of-origin-dependent inheritance of familial cerebral palsy. 16301218

2005

Entrez Id: 9179
Gene Symbol: AP4M1
AP4M1
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
0.130 GeneticVariation BEFREE A novel AP4M1 mutation in autosomal recessive cerebral palsy syndrome and clinical expansion of AP-4 deficiency. 25496299

2014

Entrez Id: 9179
Gene Symbol: AP4M1
AP4M1
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
0.130 GeneticVariation BEFREE Interestingly, two mutations affecting AP4M1 and AP4E1 have recently been found to cause cerebral palsy associated with severe intellectual disability. 21620353

2011

Entrez Id: 9179
Gene Symbol: AP4M1
AP4M1
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
0.130 GeneticVariation BEFREE Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy. 19559397

2009

Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
0.120 GeneticVariation BEFREE Mutations in COL4A1 are well described and result in brain abnormalities manifesting with severe neurological deficits including cerebral palsy, intellectual disability, and focal epilepsy. 26708157

2016

Entrez Id: 11154
Gene Symbol: AP4S1
AP4S1
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
0.120 GeneticVariation BEFREE Our investigations identified loss-of-function mutations in AP4S1/SPG52 in four children (three families) who had previously received a diagnosis of diplegic/quadriplegic CP. 27444738

2016

Entrez Id: 11154
Gene Symbol: AP4S1
AP4S1
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
0.120 GeneticVariation BEFREE We systematically analyzed the association of the AP4E1, AP4B1, AP4M1, and AP4S1 genes with CP on the basis of clinical characteristics. 24065543

2013

Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
0.120 Biomarker BEFREE This study shows an association of the COL4A1 gene with CP and suggests a potential role of COL4A1 in the pathogenesis of CP. 26748532

2016

Entrez Id: 120
Gene Symbol: ADD3
ADD3
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
0.110 GeneticVariation BEFREE Mutations in γ adducin are associated with inherited cerebral palsy. 23836506

2013

Entrez Id: 6697
Gene Symbol: SPR
SPR
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
0.110 Biomarker BEFREE In 23 patients molecular diagnosis was reached and included 5 hereditary spastic paraplegia genes (SPG) in spastic CP mimics; HPRT1, TH, QDPR, DDC in dystonic CP mimics; ADCY5 and NIKX2-1 in choreic CP mimics; CANA1A in ataxic CP mimics; and SPG, PDHA1, NIKX2-1, AT, SLC2A1 and SPR in mixed CP mimics. 30799092

2019

Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
0.110 GeneticVariation BEFREE The specificity increased to 100 % considering that in one case, initially classified as a non-CP lesion (xanthogranuloma), the identification of a CTNNB1 S47R lead to histological re-evaluation and reclassification of the lesion as aCP. 26156055

2015

Entrez Id: 2571
Gene Symbol: GAD1
GAD1
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
0.110 GeneticVariation BEFREE A novel amino acid mis-sense mutation in GAD67 was detected, which segregated with CP in affected individuals. 15571623

2004

Entrez Id: 5160
Gene Symbol: PDHA1
PDHA1
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
0.110 Biomarker BEFREE In 23 patients molecular diagnosis was reached and included 5 hereditary spastic paraplegia genes (SPG) in spastic CP mimics; HPRT1, TH, QDPR, DDC in dystonic CP mimics; ADCY5 and NIKX2-1 in choreic CP mimics; CANA1A in ataxic CP mimics; and SPG, PDHA1, NIKX2-1, AT, SLC2A1 and SPR in mixed CP mimics. 30799092

2019

Entrez Id: 3569
Gene Symbol: IL6
IL6
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
0.100 GeneticVariation BEFREE To explore the genetic association between the polymorphisms of the IL6 gene and CP in the Chinese population. 23415255

2013

Entrez Id: 3569
Gene Symbol: IL6
IL6
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
0.100 GeneticVariation BEFREE Polymorphisms in IL-6 or IL-4 may act as susceptibility genes, in the presence of viral exposure, for the development of hemiplegic and quadriplegic CP. 19566553

2009

Entrez Id: 3569
Gene Symbol: IL6
IL6
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
0.100 GeneticVariation BEFREE We studied whether the IL-6 -174 G/C polymorphism confers increased risk for CP in term infants. 19938160

2009

Entrez Id: 7124
Gene Symbol: TNF
TNF
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
0.100 AlteredExpression BEFREE Periodontal treatment performed in individuals with CP and gingivitis reduces the levels of TNF-α, IL-1β, IL-6 and IL-8. 31269113

2019

Entrez Id: 3569
Gene Symbol: IL6
IL6
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
0.100 Biomarker BEFREE <i>Results.</i> Between healthy controls and CP patients (moderate and severe disease), a statistically significant difference was observed in the concentrations of IL-6 and IL-17. 29670909

2018

Entrez Id: 3569
Gene Symbol: IL6
IL6
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
0.100 GeneticVariation BEFREE A risk haplotype at the IL6 gene likely confers risk to CP, and perhaps other diseases, via a multi-factorial mechanism. 24314052

2013

Entrez Id: 7124
Gene Symbol: TNF
TNF
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
0.100 GeneticVariation BEFREE Carriage of polymorphisms in the tumor necrosis factor-alpha and mannose-binding lectin genes are associated with an increased risk of cerebral palsy. 16522396

2006