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MCID: BSL009
MIFTS: 45

Basal Ganglia Calcification

Categories: Mental diseases, Neuronal diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Basal Ganglia Calcification

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MalaCards integrated aliases for Basal Ganglia Calcification:

Name: Basal Ganglia Calcification 12 29 6 15 70
Fahr's Syndrome 53 6 70
Fahr's Disease 73 44
Fahr Disease 12

Classifications:

MalaCards categories:
Anatomical: Neuronal diseases Mental diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 12 DOID:0060230
MeSH 44 C536275
SNOMED-CT 67 110997000
UMLS 70 C0393590 C1389280
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Summaries for Basal Ganglia Calcification

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NINDS : 53 Fahr's Syndrome is a rare, genetically dominant, inherited neurological disorder characterized by abnormal deposits of calcium in areas of the brain that control movement, including the basal ganglia and the cerebral cortex. Symptoms of the disorder may include deterioration of motor function, dementia, seizures, headache, dysarthria (poorly articulated speech),spasticity (stiffness of the limbs) and spastic paralysis, eye impairments, and athetosis (involuntary, writhing movements). Fahr's Syndrome can also include symptoms characteristic of Parkinson's disease such as tremors, muscle rigidity, a mask-like facial appearance, shuffling gait, and a "pill-rolling" motion of the fingers. These symptoms generally occur later in the development of the disease. More common symptoms include dystonia (disordered muscle tone) and chorea (involuntary, rapid, jerky movements). Age of onset is typically in the 40s or 50s, although it can occur at any time in childhood or adolescence.

MalaCards based summary : Basal Ganglia Calcification, also known as fahr's syndrome, is related to basal ganglia calcification, idiopathic, 1 and movement disease, and has symptoms including tremor, abnormality of extrapyramidal motor function and dysdiadochokinesis. An important gene associated with Basal Ganglia Calcification is SLC20A2 (Solute Carrier Family 20 Member 2), and among its related pathways/superpathways are Cytoskeleton remodeling_Role of PDGFs in cell migration and Osteoblast Signaling. Affiliated tissues include brain, cortex and eye, and related phenotypes are nervous system and vision/eye

Disease Ontology : 12 A basal ganglia disease characterized by the presence of abnormal calcium deposits of unknown cause in the brain; has symptom dementia, psychosis, mood swings and loss of acquired motor skills.

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Related Diseases for Basal Ganglia Calcification

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Diseases related to Basal Ganglia Calcification via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 258)
# Related Disease Score Top Affiliating Genes
1 basal ganglia calcification, idiopathic, 1 33.2 XPR1 SLC20A2 PDGFRB PDGFB MYORG JAM2
2 movement disease 30.9 WDR45 THAP1 PANK2
3 choreatic disease 30.5 THAP1 SLC20A2 PANK2
4 solitary bone cyst 30.4 TYROBP TREM2
5 dystonia 30.4 XPR1 WDR45 THAP1 SLC20A2 PDGFRB PDGFB
6 basal ganglia calcification, idiopathic, 4 11.9
7 basal ganglia calcification, idiopathic, 5 11.9
8 basal ganglia calcification, idiopathic, 6 11.8
9 basal ganglia calcification, idiopathic, 7, autosomal recessive 11.8
10 immunodeficiency 38 with basal ganglia calcification 11.8
11 basal ganglia calcification, idiopathic, 8, autosomal recessive 11.8
12 basal ganglia calcification, idiopathic, childhood-onset 11.7
13 aicardi-goutieres syndrome 11.5
14 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 11.4
15 spondyloenchondrodysplasia with immune dysregulation 11.2
16 aicardi-goutieres syndrome 7 11.2
17 congenital intrauterine infection-like syndrome 11.0
18 hypoparathyroidism 10.8
19 parkinsonism 10.7
20 pseudohypoparathyroidism 10.4
21 mood disorder 10.4
22 calcinosis 10.4
23 hyperphosphatemia 10.3
24 down syndrome 10.3
25 major affective disorder 8 10.3
26 major affective disorder 9 10.3
27 bipolar disorder 10.3
28 seizure disorder 10.3
29 spasticity 10.3
30 tremor 10.3
31 multifocal dystonia 10.3 THAP1 MYORG
32 acrocephalopolysyndactyly type iii 10.3 WDR45 PANK2
33 focal hand dystonia 10.2 THAP1 PANK2
34 oromandibular dystonia 10.2 THAP1 PANK2
35 infantile myofibromatosis 10.2 SLC20A2 PDGFRB PDGFB MYORG
36 stroke, ischemic 10.2
37 mild cognitive impairment 10.2
38 rickets 10.2
39 dementia 10.2
40 toxoplasmosis 10.2
41 organic mood syndrome 10.2
42 anoxia 10.2
43 head injury 10.2
44 neurodegeneration with brain iron accumulation 4 10.2 WDR45 PANK2
45 neurodegeneration with brain iron accumulation 5 10.2 WDR45 PANK2
46 neurodegeneration with brain iron accumulation 10.2 WDR45 THAP1 PANK2
47 neurodegeneration with brain iron accumulation 6 10.1 WDR45 PANK2
48 episodic kinesigenic dyskinesia 1 10.1
49 arterial calcification, generalized, of infancy, 1 10.1
50 neurodegeneration with brain iron accumulation 1 10.1

Graphical network of the top 20 diseases related to Basal Ganglia Calcification:



Diseases related to Basal Ganglia Calcification
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Symptoms & Phenotypes for Basal Ganglia Calcification

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UMLS symptoms related to Basal Ganglia Calcification:


tremor; abnormality of extrapyramidal motor function; dysdiadochokinesis; athetosis; bradykinesia; muscle rigidity; cerebellar ataxia

MGI Mouse Phenotypes related to Basal Ganglia Calcification:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.7 FOLR1 JAM2 PANK2 PDGFB PDGFRB SLC20A2
2 vision/eye MP:0005391 9.28 FOLR1 JAM2 PANK2 PDGFB PDGFRB RAB39B
Sources

Drugs & Therapeutics for Basal Ganglia Calcification

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Search Clinical Trials , NIH Clinical Center for Basal Ganglia Calcification

Cochrane evidence based reviews: fahr's disease

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Genetic Tests for Basal Ganglia Calcification

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Genetic tests related to Basal Ganglia Calcification:

# Genetic test Affiliating Genes
1 Basal Ganglia Calcification 29
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Anatomical Context for Basal Ganglia Calcification

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MalaCards organs/tissues related to Basal Ganglia Calcification:

40
Brain, Cortex, Eye, Heart, Liver, Cerebellum, Endothelial
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Publications for Basal Ganglia Calcification

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Articles related to Basal Ganglia Calcification:

(show top 50) (show all 549)
# Title Authors PMID Year
1
Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis. 61 6
22327515 2012
2
Whole-genome sequencing of patients with rare diseases in a national health system. 6
32581362 2020
3
Primary familial brain calcification linked to deletion of 5' noncoding region of SLC20A2. 6
27726124 2017
4
Osteogenic Mechanisms of Basal Ganglia Calcification and its ex vivo Model in the Hypoparathyroid Milieu. 61
33539507 2021
5
Human induced pluripotent stem cells generated from a patient with idiopathic basal ganglia calcification. 61
33714066 2021
6
Basal ganglia calcification is associated with local and systemic metabolic mechanisms in adult hypoparathyroidism. 61
33788935 2021
7
Monogenic Lupus with IgA Nephropathy Caused by Spondyloenchondrodysplasia with Immune Dysregulation. 61
33712926 2021
8
Idiopathic basal ganglia calcification may cause pathological conditions resembling Parkinson's disease. 61
33490655 2021
9
Canadian national hypoparathyroidism registry: an overview of hypoparathyroidism in Canada. 61
33655415 2021
10
Fahr's syndrome due to hypoparathyroidism revisited: A case of parkinsonism and a review of all published cases. 61
33529967 2021
11
PNPT1 mutations may cause Aicardi-Goutières-Syndrome. 61
33158637 2021
12
MAP3K6 Mutations in a Neurovascular Disease Causing Stroke, Cognitive Impairment, and Tremor. 61
33728376 2021
13
Basal ganglia calcification in hypoparathyroidism and pseudohypoparathyroidism: local and systemic metabolic mechanisms. 61
32661948 2021
14
SLC20A2-Associated Idiopathic Basal Ganglia Calcification-Related Recurrent Psychosis Response to Low-Dose Antipsychotics: A Case Report and Literature Review. 61
33532164 2020
15
Fahr's syndrome presenting with seizures in SARS-CoV-2 (COVID-19) pneumonia-a case report. 61
32965525 2020
16
Mechanisms of calcification in Fahr disease and exposure of potential therapeutic targets. 61
33299674 2020
17
Psychiatric Manifestations in Fahr's Syndrome: A Case Report. 61
33154842 2020
18
Fahr's Syndrome Misdiagnosed As Delusional Disorder: A Case Report. 61
32952430 2020
19
Fahr's disease associated with anaplastic ependymoma: a case report and review of the literature. 61
32909453 2020
20
A Critical Role for ISGylation, Ubiquitination and, SUMOylation in Brain Damage: Implications for Neuroprotection. 61
32500407 2020
21
Challenges in the management of chronic hypoparathyroidism. 61
33486471 2020
22
Primary Hypoparathyroidism Mimicking Ankylosing Spondylitis in a Young Man with Fahr's Syndrome: A Case Report. 61
32944487 2020
23
Cortical myoclonus and epilepsy in a family with a new SLC20A2 mutation. 61
32274582 2020
24
Primary familial basal ganglia calcification presented with depression and obsessive-compulsive symptoms: A case report. 61
32367606 2020
25
EPILEPTIC SEIZURES AS THE FIRST MANIFESTATION OF FAHR'S SYNDROME. 61
33363663 2020
26
A rare case of sever primary hypoparathyroidism presented with amnesia and basal ganglia calcification. 61
32550208 2020
27
[Basal ganglia calcification]. 61
32165049 2020
28
Basal ganglia infarction after mild head trauma in pediatric patients with basal ganglia calcification. 61
32058199 2020
29
Seizures and Basal Ganglia Calcification Caused by Hypoparathyroidism. 61
32489742 2020
30
A rare case of spondyloarthropathy: Iatrogenic hypoparathyroidism. 61
32318681 2020
31
Pediatric Idiopathic Basal Ganglia Calcification and Spherocytosis With Chromosome 8p11 Deletion. 61
31913475 2020
32
PSEUDOPSEUDOHYPOPARATHYROIDISM AS A CAUSE OF FAHR SYNDROME: HYPOPARATHYROIDISM NOT THE ONLY ONE. 61
32685044 2020
33
Kosaki overgrowth syndrome: A newly identified entity caused by pathogenic variants in platelet-derived growth factor receptor-beta. 61
31710779 2019
34
Multisystem mitochondrial disorder is more prevalent than BGC1 variants in patients with Fahr's syndrome. 61
31799457 2019
35
[Hypoparathyroidism - un underestimated problem?] 61
31828671 2019
36
Fahr's Syndrome in a Sporadic Case. 61
31857569 2019
37
Correction to: Basal ganglia calcifications (Fahr's syndrome): related conditions and clinical features. 61
31444730 2019
38
Basal ganglia calcifications (Fahr's syndrome): related conditions and clinical features. 61
31267306 2019
39
Fahr's syndrome: a case of unwanted calcium in the brain. 61
31154614 2019
40
Hypoparathyroidism with Fahr's syndrome: A case report and review of the literature. 61
31750351 2019
41
Partial reduced Pi transport function of PiT-2 might not be sufficient to induce brain calcification of idiopathic basal ganglia calcification. 61
31754123 2019
42
Adult-Onset Isolated Hemichorea Revealing Iatrogenic Hypoparathyroidism and Bilateral Basal Ganglia Calcification. 61
31736581 2019
43
Idiopathic Basal Ganglia Calcification: Fahr's Syndrome, a Rare Disorder. 61
31772865 2019
44
Commentary on "Basal Ganglia Calcification: A Case Report of Fahr Disease With Pure Psychiatric Symptoms". 61
31505527 2019
45
Basal Ganglia Calcification: A Case Report of Fahr Disease With Pure Psychiatric Symptoms. 61
31505526 2019
46
Pathological Mineralization: The Potential of Mineralomics. 61
31557841 2019
47
Concomitant Fahr's syndrome and thoracic ossification of the posterior longitudinal ligament caused by idiopathic hypoparathyroidism - case report. 61
31391033 2019
48
Fahr's Syndrome and Neuropsychiatric Symptoms: Differential Diagnosis in Neuropsychiatry. 61
31445539 2019
49
A novel de novo PDGFRB variant in a child with severe cerebral malformations, intracerebral calcifications, and infantile myofibromatosis. 61
31004414 2019
50
Clinical features of bipolar disorder with idiopathic basal ganglia calcification: a review of case reports in the literature. 61
31266397 2019
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Variations for Basal Ganglia Calcification

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ClinVar genetic disease variations for Basal Ganglia Calcification:

6 (show top 50) (show all 111)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC20A2 NM_001257180.2(SLC20A2):c.1784C>T (p.Thr595Met) SNV Pathogenic 29797 rs387906654 GRCh37: 8:42286286-42286286
GRCh38: 8:42428768-42428768
2 SLC20A2 NM_001257180.2(SLC20A2):c.1828_1831del (p.Ser610fs) Deletion Pathogenic 75231 rs398122396 GRCh37: 8:42275449-42275452
GRCh38: 8:42417931-42417934
3 SLC20A2 NM_001257180.2(SLC20A2):c.583_584del (p.Val195fs) Deletion Pathogenic 75233 rs398122397 GRCh37: 8:42317443-42317444
GRCh38: 8:42459925-42459926
4 SLC20A2 NM_001257180.2(SLC20A2):c.1802C>G (p.Ser601Trp) SNV Pathogenic 29794 rs387906652 GRCh37: 8:42275478-42275478
GRCh38: 8:42417960-42417960
5 SLC20A2 NM_001257180.2(SLC20A2):c.1802C>T (p.Ser601Leu) SNV Pathogenic 29795 rs387906652 GRCh37: 8:42275478-42275478
GRCh38: 8:42417960-42417960
6 SLC20A2 NM_001257180.2(SLC20A2):c.1492G>A (p.Gly498Arg) SNV Pathogenic 29793 rs1586022262 GRCh37: 8:42294538-42294538
GRCh38: 8:42437020-42437020
7 SLC20A2 NM_001257180.2(SLC20A2):c.136C>T (p.Gln46Ter) SNV Pathogenic 522849 rs751093906 GRCh37: 8:42329773-42329773
GRCh38: 8:42472255-42472255
8 SLC20A2 NM_001257180.2(SLC20A2):c.1723G>T (p.Glu575Ter) SNV Pathogenic 522850 rs387906653 GRCh37: 8:42286347-42286347
GRCh38: 8:42428829-42428829
9 SLC20A2 NM_001257180.2(SLC20A2):c.1375G>T (p.Glu459Ter) SNV Pathogenic 584447 rs1563452941 GRCh37: 8:42294655-42294655
GRCh38: 8:42437137-42437137
10 SLC20A2 NM_001257180.2(SLC20A2):c.935-2A>G SNV Pathogenic 636249 rs1586025869 GRCh37: 8:42295097-42295097
GRCh38: 8:42437579-42437579
11 SLC20A2 SLC20A2, EX6-10DEL Deletion Pathogenic 691908 GRCh37:
GRCh38:
12 SLC20A2 NM_001257180.2(SLC20A2):c.509del (p.Ile169_Leu170insTer) Deletion Pathogenic 280118 rs398122395 GRCh37: 8:42320530-42320530
GRCh38: 8:42463012-42463012
13 WDR45 NM_001029896.2(WDR45):c.69_75del (p.Cys23fs) Deletion Pathogenic 813007 rs1602540581 GRCh37: X:48935551-48935557
GRCh38: X:49077892-49077898
14 SLC20A2 NM_001257180.2(SLC20A2):c.99del (p.Phe33fs) Deletion Pathogenic 930597 GRCh37: 8:42329810-42329810
GRCh38: 8:42472292-42472292
15 SLC20A2 NM_001257180.2(SLC20A2):c.1703C>T (p.Pro568Leu) SNV Likely pathogenic 1064453 GRCh37: 8:42287588-42287588
GRCh38: 8:42430070-42430070
16 SLC20A2 NC_000008.10:g.(?_42275320)_(42297172_42302163)del Deletion Likely pathogenic 634890 GRCh37: 8:42275320-42302163
GRCh38: 8:42417802-42444645
17 SLC20A2 NM_001257180.2(SLC20A2):c.1520_1521del (p.Val507fs) Deletion Likely pathogenic 634891 rs1563452322 GRCh37: 8:42294509-42294510
GRCh38: 8:42436991-42436992
18 SLC20A2 NM_001257180.2(SLC20A2):c.188G>A (p.Gly63Asp) SNV Likely pathogenic 634892 rs1563497714 GRCh37: 8:42329721-42329721
GRCh38: 8:42472203-42472203
19 SLC20A2 NM_001257180.2(SLC20A2):c.187G>A (p.Gly63Ser) SNV Likely pathogenic 634893 rs1563497719 GRCh37: 8:42329722-42329722
GRCh38: 8:42472204-42472204
20 SLC20A2 NM_001257180.2(SLC20A2):c.1196A>C (p.His399Pro) SNV Likely pathogenic 634894 rs1563453866 GRCh37: 8:42294834-42294834
GRCh38: 8:42437316-42437316
21 SLC20A2 NC_000008.10:g.(42297172_42302163)_(42302281_42317413)del Deletion Likely pathogenic 634895 GRCh37: 8:42297172-42317413
GRCh38: 8:42439654-42459895
22 SLC20A2 NM_001257180.2(SLC20A2):c.303del (p.Trp101fs) Deletion Likely pathogenic 634896 rs1563490467 GRCh37: 8:42323422-42323422
GRCh38: 8:42465904-42465904
23 SLC20A2 NM_001257180.2(SLC20A2):c.1795-1G>A SNV Likely pathogenic 634897 rs1563431044 GRCh37: 8:42275486-42275486
GRCh38: 8:42417968-42417968
24 SLC20A2 NM_001257180.2(SLC20A2):c.21del (p.Leu7fs) Deletion Likely pathogenic 634898 rs1563498184 GRCh37: 8:42329888-42329888
GRCh38: 8:42472370-42472370
25 SLC20A2 NM_001257180.2(SLC20A2):c.1723G>A (p.Glu575Lys) SNV Likely pathogenic 29796 rs387906653 GRCh37: 8:42286347-42286347
GRCh38: 8:42428829-42428829
26 overlap with 8 genes Deletion Likely pathogenic 236030 GRCh37: 8:42338721-42916885
GRCh38:
27 SMIM19 , SLC20A2 NM_001135674.2(SMIM19):c.-433C>T SNV Uncertain significance 363100 rs574357175 GRCh37: 8:42397088-42397088
GRCh38: 8:42541945-42541945
28 SMIM19 , SLC20A2 NM_001135674.2(SMIM19):c.-560dup Duplication Uncertain significance 363097 rs1554579488 GRCh37: 8:42396958-42396959
GRCh38: 8:42541815-42541816
29 SLC20A2 NM_001257180.2(SLC20A2):c.-89A>G SNV Uncertain significance 363095 rs185590768 GRCh37: 8:42329997-42329997
GRCh38: 8:42472479-42472479
30 SLC20A2 NM_001257180.2(SLC20A2):c.1576G>T (p.Val526Leu) SNV Uncertain significance 363070 rs1420760497 GRCh37: 8:42287715-42287715
GRCh38: 8:42430197-42430197
31 SLC20A2 NM_001257180.2(SLC20A2):c.*538C>T SNV Uncertain significance 363057 rs746914329 GRCh37: 8:42274783-42274783
GRCh38: 8:42417265-42417265
32 SLC20A2 NM_001257180.2(SLC20A2):c.1090G>A (p.Asp364Asn) SNV Uncertain significance 363076 rs748895007 GRCh37: 8:42294940-42294940
GRCh38: 8:42437422-42437422
33 SMIM19 , SLC20A2 NM_001135674.2(SMIM19):c.-534C>G SNV Uncertain significance 363098 rs1554579510 GRCh37: 8:42396987-42396987
GRCh38: 8:42541844-42541844
34 SLC20A2 NM_001257180.2(SLC20A2):c.883C>T (p.Leu295=) SNV Uncertain significance 363082 rs1212922301 GRCh37: 8:42297019-42297019
GRCh38: 8:42439501-42439501
35 SMIM19 , SLC20A2 NM_001135674.2(SMIM19):c.-386G>A SNV Uncertain significance 363101 rs969584653 GRCh37: 8:42397135-42397135
GRCh38: 8:42541992-42541992
36 SLC20A2 NM_001257180.2(SLC20A2):c.*171G>A SNV Uncertain significance 363063 rs908206225 GRCh37: 8:42275150-42275150
GRCh38: 8:42417632-42417632
37 SMIM19 , SLC20A2 NM_001135674.2(SMIM19):c.-254G>T SNV Uncertain significance 363104 rs1003849503 GRCh37: 8:42397267-42397267
GRCh38: 8:42542124-42542124
38 SLC20A2 NM_001257180.2(SLC20A2):c.834G>A (p.Lys278=) SNV Uncertain significance 363085 rs778920007 GRCh37: 8:42297068-42297068
GRCh38: 8:42439550-42439550
39 SLC20A2 NM_001257180.2(SLC20A2):c.*289A>C SNV Uncertain significance 363061 rs892436898 GRCh37: 8:42275032-42275032
GRCh38: 8:42417514-42417514
40 SLC20A2 NM_001257180.2(SLC20A2):c.553G>C (p.Val185Leu) SNV Uncertain significance 363089 rs188325552 GRCh37: 8:42317474-42317474
GRCh38: 8:42459956-42459956
41 SLC20A2 NM_001257180.2(SLC20A2):c.1803G>A (p.Ser601=) SNV Uncertain significance 363069 rs761069656 GRCh37: 8:42275477-42275477
GRCh38: 8:42417959-42417959
42 SLC20A2 NM_001257180.2(SLC20A2):c.*1069G>C SNV Uncertain significance 363052 rs1010204441 GRCh37: 8:42274252-42274252
GRCh38: 8:42416734-42416734
43 SMIM19 , SLC20A2 NM_001135674.2(SMIM19):c.-564dup Duplication Uncertain significance 363096 rs1554579481 GRCh37: 8:42396955-42396956
GRCh38: 8:42541812-42541813
44 SLC20A2 NM_001257180.2(SLC20A2):c.*660T>C SNV Uncertain significance 363055 rs1211116059 GRCh37: 8:42274661-42274661
GRCh38: 8:42417143-42417143
45 SLC20A2 NM_001257180.2(SLC20A2):c.*409A>G SNV Uncertain significance 363058 rs190717111 GRCh37: 8:42274912-42274912
GRCh38: 8:42417394-42417394
46 SLC20A2 NM_001257180.2(SLC20A2):c.*70C>T SNV Uncertain significance 363067 rs371247567 GRCh37: 8:42275251-42275251
GRCh38: 8:42417733-42417733
47 SLC20A2 NM_001257180.2(SLC20A2):c.*124G>T SNV Uncertain significance 363064 rs948433091 GRCh37: 8:42275197-42275197
GRCh38: 8:42417679-42417679
48 SMIM19 , SLC20A2 NM_001135674.2(SMIM19):c.-365C>A SNV Uncertain significance 363102 rs1206770675 GRCh37: 8:42397156-42397156
GRCh38: 8:42542013-42542013
49 SMIM19 , SLC20A2 NM_001135674.2(SMIM19):c.-450A>G SNV Uncertain significance 911529 GRCh37: 8:42397071-42397071
GRCh38: 8:42541928-42541928
50 SMIM19 , SLC20A2 NM_001135674.2(SMIM19):c.-412G>A SNV Uncertain significance 911530 GRCh37: 8:42397109-42397109
GRCh38: 8:42541966-42541966
Sources

Expression for Basal Ganglia Calcification

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Search GEO for disease gene expression data for Basal Ganglia Calcification.
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Pathways for Basal Ganglia Calcification

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Pathways related to Basal Ganglia Calcification according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Cytoskeleton remodeling_Role of PDGFs in cell migration 23
10.32 PDGFRB PDGFB
2
Osteoblast Signaling 1
9.77 PDGFRB PDGFB
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GO Terms for Basal Ganglia Calcification

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Cellular components related to Basal Ganglia Calcification according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.35 TYROBP PDGFRB PDGFB JAM2 FOLR1
2 intrinsic component of plasma membrane GO:0031226 8.8 XPR1 TREM2 PDGFRB

Biological processes related to Basal Ganglia Calcification according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 apoptotic cell clearance GO:0043277 9.48 TYROBP TREM2
2 positive regulation of smooth muscle cell migration GO:0014911 9.46 PDGFRB PDGFB
3 positive regulation of calcium ion import GO:0090280 9.43 PDGFRB PDGFB
4 phosphate ion transmembrane transport GO:0035435 9.4 XPR1 SLC20A2
5 positive regulation of DNA biosynthetic process GO:2000573 9.37 PDGFRB PDGFB
6 phosphate ion transport GO:0006817 9.32 XPR1 SLC20A2
7 positive regulation of macrophage fusion GO:0034241 9.26 TYROBP TREM2
8 microglial cell activation involved in immune response GO:0002282 9.16 TYROBP TREM2
9 positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway GO:0035793 8.96 PDGFRB PDGFB
10 positive regulation of chemotaxis GO:0050921 8.8 TREM2 PDGFRB PDGFB

Molecular functions related to Basal Ganglia Calcification according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 platelet-derived growth factor receptor binding GO:0005161 9.16 PDGFRB PDGFB
2 platelet-derived growth factor binding GO:0048407 8.96 PDGFRB PDGFB
3 signaling receptor activity GO:0038023 8.92 XPR1 TREM2 SLC20A2 FOLR1
Sources

Sources for Basal Ganglia Calcification

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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