BHC
MCID: CHR630
MIFTS: 41

Chorea, Benign Hereditary (BHC)

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Chorea, Benign Hereditary

MalaCards integrated aliases for Chorea, Benign Hereditary:

Name: Chorea, Benign Hereditary 57
Benign Hereditary Chorea 20 58 36 29 6 71
Chorea, Hereditary Benign 57 73 13
Bhc 57 58 73
Hereditary Progressive Chorea Without Dementia 57
Hereditary Chorea Without Dementia 73
Chorea, Hereditary, Benign 39
Chorea Benign Hereditary 54
Chorea, Benign Familial 71
Chorea Familial Benign 20
Benign Familial Chorea 58
Bche Deficiency 6
Bch 57

Characteristics:

Orphanet epidemiological data:

58
benign hereditary chorea
Inheritance: Autosomal dominant; Age of onset: Childhood,Infancy; Age of death: normal life expectancy;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
onset in childhood (usually before age 5 years)
allelic disorder to choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress , which is a more severe disorder


HPO:

31
chorea, benign hereditary:
Inheritance autosomal dominant inheritance
Onset and clinical course juvenile onset


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

OMIM® 57 118700
KEGG 36 H00860
MeSH 44 D002819
ICD10 via Orphanet 33 G25.5
UMLS via Orphanet 72 C0393584 C1859098
Orphanet 58 ORPHA1429
MedGen 41 C0393584
UMLS 71 C0393584 C1859098

Summaries for Chorea, Benign Hereditary

GARD : 20 Benign hereditary chorea (BHC) is a rare movement disorder that begins in infancy or childhood. Signs and symptoms in infants may include low muscle tone, involuntary movements (chorea), lung infections, and respiratory distress. Signs and symptoms in children may include delayed motor and walking milestones, jerky muscle movements (myoclonus), upper limb dystonia, motor tics, and vocal tics. The chorea often improves with time. In some cases, myoclonus persists or worsens. Children with BHC can have normal intellect, but may have learning and behavior problems. Other signs and symptoms include thyroid problems (e.g., hypothyroidism) and lung disease (e.g., recurring infections). Treatment is tailored to each child. Tetrabenazine and levodopa have been tried in individual cases with some success. BHC is caused by mutations in the NKX2-1 gene (also known as the TITF1 gene). It is passed through families in an autosomal dominant fashion.

MalaCards based summary : Chorea, Benign Hereditary, also known as benign hereditary chorea, is related to choreatic disease and butyrylcholinesterase deficiency. An important gene associated with Chorea, Benign Hereditary is NKX2-1 (NK2 Homeobox 1), and among its related pathways/superpathways is Thyroid hormone synthesis. Affiliated tissues include thyroid, lung and brain, and related phenotypes are gait disturbance and dysarthria

OMIM® : 57 Benign hereditary chorea (BHC) is an autosomal dominant movement disorder that manifests before age 5 years and has a stationary or only slightly progressive course. Intelligence is normal or slightly below normal and mental deterioration is not seen. In some families, the choreic movements decrease during adolescence or early adulthood (summary by Breedveld et al., 2002). (118700) (Updated 05-Mar-2021)

KEGG : 36 Benign hereditary chorea (BHC) is a rare, autosomal dominant, static disorder characterized by onset of chorea in conjunction with hypothyroidism and respiratory problems. Features supporting this diagnosis include normal general examination with no dysmorphic features, broadly normal intellectual development with no regression or loss of cognitive skills, absence of other significant neurologic disturbances, and, with the exception of chorea, normal neurologic examination findings. Mutations in the TTF1 gene encoding the thyroid transcription factor-1 have been identified in a number of BHC patients, suggesting that aberration of TTF1 transcriptional function or haploinsufficiency is associated with this disorder. TTF1, belonging to the NKX2 homeodomain transcription factor family, has been implicated in several important molecular pathways essential for brain, thyroid and lung morphogenesis.

UniProtKB/Swiss-Prot : 73 Chorea, hereditary benign: A rare autosomal dominant movement disorder, defined by early onset in childhood, a stable or non-progressive course of chorea, and no mental deterioration. Chorea is characterized by involuntary, forcible, rapid, jerky movements that may be subtle or become confluent, markedly altering normal patterns of movement.

Wikipedia : 74 Benign hereditary chorea (BHC), also known as benign familial chorea, is a rare autosomal dominant... more...

Related Diseases for Chorea, Benign Hereditary

Diseases in the Chorea, Benign Familial family:

Chorea, Benign Hereditary

Diseases related to Chorea, Benign Hereditary via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 92)
# Related Disease Score Top Affiliating Genes
1 choreatic disease 29.3 NKX2-1 MBIP ADCY5
2 butyrylcholinesterase deficiency 11.5
3 choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction 11.4
4 testicular seminoma 10.9
5 huntington disease 10.5
6 hypothyroidism 10.5
7 ataxia and polyneuropathy, adult-onset 10.4
8 movement disease 10.4
9 myoclonus 10.4
10 congenital hypothyroidism 10.4
11 hypotonia 10.3
12 tic disorder 10.2
13 human immunodeficiency virus type 1 10.2
14 chorea, childhood-onset, with psychomotor retardation 10.2
15 dystonia 10.2
16 nkx2-1-related disorders 10.2
17 loiasis 10.1
18 dentatorubral-pallidoluysian atrophy 10.1
19 huntington disease-like 2 10.1
20 spinocerebellar ataxia 17 10.1
21 apraxia 10.1
22 autosomal dominant cerebellar ataxia 10.1
23 lung disease 10.1
24 oculomotor apraxia 10.1
25 tremor 10.0
26 renal cell carcinoma, nonpapillary 10.0
27 prostate cancer 10.0
28 immune deficiency disease 10.0
29 pancreatic cancer 10.0
30 exanthem 10.0
31 generalized epilepsy with febrile seizures plus 10.0
32 granulocytopenia 10.0
33 seizures, benign familial neonatal, 1 10.0
34 attention deficit-hyperactivity disorder 10.0
35 myoclonus and ataxia 10.0
36 obsessive-compulsive disorder 10.0
37 abetalipoproteinemia 10.0
38 ataxia-telangiectasia 10.0
39 lung cancer 10.0
40 frontotemporal dementia 10.0
41 supranuclear palsy, progressive, 1 10.0
42 huntington disease-like 1 10.0
43 ataxia-telangiectasia-like disorder 1 10.0
44 sydenham chorea 10.0
45 stuttering 10.0
46 microcephaly 10.0
47 neonatal respiratory failure 10.0
48 respiratory failure 10.0
49 goiter 10.0
50 telangiectasis 10.0

Graphical network of the top 20 diseases related to Chorea, Benign Hereditary:



Diseases related to Chorea, Benign Hereditary

Symptoms & Phenotypes for Chorea, Benign Hereditary

Human phenotypes related to Chorea, Benign Hereditary:

58 31 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gait disturbance 58 31 hallmark (90%) Very frequent (99-80%) HP:0001288
2 dysarthria 31 occasional (7.5%) HP:0001260
3 chorea 31 HP:0002072
4 abnormality of movement 58 Very frequent (99-80%)
5 anxiety 31 HP:0000739
6 motor delay 31 HP:0001270

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
chorea
delayed motor development
dysarthria may occur
gait abnormalities may occur
movements are exacerbated by anxiety
more

Clinical features from OMIM®:

118700 (Updated 05-Mar-2021)

GenomeRNAi Phenotypes related to Chorea, Benign Hereditary according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance GR00327-A 8.62 ADCY5 BCHE

Drugs & Therapeutics for Chorea, Benign Hereditary

Search Clinical Trials , NIH Clinical Center for Chorea, Benign Hereditary

Genetic Tests for Chorea, Benign Hereditary

Genetic tests related to Chorea, Benign Hereditary:

# Genetic test Affiliating Genes
1 Benign Hereditary Chorea 29 NKX2-1

Anatomical Context for Chorea, Benign Hereditary

MalaCards organs/tissues related to Chorea, Benign Hereditary:

40
Thyroid, Lung, Brain, Pituitary, Eye, Cortex

Publications for Chorea, Benign Hereditary

Articles related to Chorea, Benign Hereditary:

(show top 50) (show all 114)
# Title Authors PMID Year
1
Mutations in TITF-1 are associated with benign hereditary chorea. 54 61 6 57
11971878 2002
2
Benign hereditary chorea: clinical, genetic, and pathological findings. 6 57 61
12891678 2003
3
Nonsense mutation in TITF1 in a Portuguese family with benign hereditary chorea. 54 61 6
16220345 2005
4
Clinical and genetic heterogeneity in benign hereditary chorea. 57 61
12196653 2002
5
Hereditary benign chorea: clinical and genetic features of a distinct disease. 61 57
11445636 2001
6
Benign hereditary chorea of early onset maps to chromosome 14q. 57 61
10631144 2000
7
Exclusion mapping of the benign hereditary chorea gene from the Huntington's disease locus: report of a family. 57 61
7634535 1995
8
Identification of an expanded CAG repeat in the Huntington's disease gene (IT15) in a family reported to have benign hereditary chorea. 57 61
8133497 1993
9
Absence of close linkage between benign hereditary chorea and the locus D4S10 (probe G8). 61 57
2895189 1988
10
Benign hereditary chorea--response to steroids. 57 61
4092854 1985
11
Benign hereditary chorea. Clinical and genetic aspects. 61 57
624192 1978
12
Naturally occurring mutation Leu307Pro of human butyrylcholinesterase in the Vysya community of India. 6
16788378 2006
13
Genetic analysis of a Japanese patient with butyrylcholinesterase deficiency. 6
9543549 1997
14
Inactivation of the cholinesterase gene by Alu insertion: possible mechanism for human gene transposition. 6
1662391 1991
15
Identification of a frameshift mutation responsible for the silent phenotype of human serum cholinesterase, Gly 117 (GGT----GGAG). 6
2339692 1990
16
Hereditary progressive chorea without dementia. 57
2964512 1988
17
Benign (nonparoxysmal) familial chorea of early onset: an electroneurophysiological examination of two families. 57
3159307 1985
18
Hereditary chorea without dementia. 57
144176 1977
19
Familial essential ("benign") chorea. 57
1003446 1976
20
Benign familial chorea with onset in childhood. 57
4269386 1973
21
Hereditary nonprogressive chorea of early onset. 57
4225827 1967
22
Familial benign chorea with intention tremor: a clinical entity. 57
4225654 1967
23
A 'silent' pseudo-cholinesterase gene. 6
14465122 1962
24
Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case. 54 61
19336474 2009
25
A novel NKX2.1 mutation in a family with hypothyroidism and benign hereditary chorea. 61 54
18788921 2008
26
Psychosis, short stature in benign hereditary chorea: a novel thyroid transcription factor-1 mutation. 61 54
18661567 2008
27
Benign hereditary chorea: clinical, neuroimaging, and genetic findings. 61 54
17940252 2007
28
New syndromic form of benign hereditary chorea is associated with a deletion of TITF-1 and PAX-9 contiguous genes. 61 54
17044090 2006
29
Mutations in TITF1 are not relevant to sporadic and familial chorea of unknown cause. 54 61
16830318 2006
30
Alterations of striatal neurons in benign hereditary chorea. 54 61
15986422 2005
31
A novel TITF-1 mutation causes benign hereditary chorea with response to levodopa. 61 54
15955952 2005
32
Benign hereditary chorea: From benign to serious. 61
31983472 2020
33
Combined mutations of NKX2-1 and surfactant protein C genes for refractory low oxyhemoglobin saturation and interstitial pneumonia: A case report. 61
32195974 2020
34
Chorea. 61
31356291 2019
35
PNKP deficiency mimicking a benign hereditary chorea: The misleading presentation of a neurodegenerative disorder. 61
30956058 2019
36
Is Benign Hereditary Chorea Really Benign? Brain-Lung-Thyroid Syndrome Caused by NKX2-1 Mutations. 61
30746413 2019
37
A Not So Benign Family Pedigree With Hereditary Chorea: A Broader Phenotypic Expression or Additional Picture? 61
30793011 2019
38
Benign hereditary chorea and deletions outside NKX2-1: What's the role of MBIP? 61
29621620 2018
39
l-Thyroxine-responsive drop attacks in childhood benign hereditary chorea: A case report. 61
29289388 2018
40
NKX2-1 New Mutation Associated With Myoclonus, Dystonia, and Pituitary Involvement. 61
30186310 2018
41
A further case of brain-lung-thyroid syndrome with deletion proximal to NKX2-1. 61
28286255 2017
42
Huntington's Disease, Huntington's Disease Look-Alikes‎, and Benign Hereditary Chorea: What's New? 61
30713928 2016
43
Phenotypic insights into ADCY5-associated disease. 61
27061943 2016
44
ADCY5 mutations are another cause of benign hereditary chorea. 61
26952302 2016
45
Benign hereditary chorea related to NKX2-1 with ataxia and dystonia. 61
27066577 2016
46
A Video Report of Brain-Lung-Thyroid Syndrome in a Japanese Female With a Novel Frameshift Mutation of the NKX2-1 Gene. 61
28503612 2016
47
Functional characterization of two novel mutations in TTF-1/NKX2.1 homeodomain in patients with benign hereditary chorea. 61
26723978 2016
48
Benign hereditary chorea, not only chorea: a family case presentation. 61
26839702 2016
49
ADCY5 identified as a novel cause of benign hereditary chorea. 61
26408352 2015
50
ADCY5 Mutations and Benign Hereditary Chorea. 61
26933606 2015

Variations for Chorea, Benign Hereditary

ClinVar genetic disease variations for Chorea, Benign Hereditary:

6 (show top 50) (show all 155)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NKX2-1 NM_001079668.3(NKX2-1):c.(?_-1)_*(1206_?)del Deletion Pathogenic 635557 14:36985277-36989335 14:36516072-36520130
2 BCHE NM_000055.2(BCHE):c.435delTinsAG (p.Phe146Valfs) Indel Pathogenic 13216 rs398124632 3:165548387-165548387 3:165830599-165830599
3 BCHE BCHE, ALU INS, EX2 Insertion Pathogenic 13225
4 BCHE NM_000055.4(BCHE):c.467A>G (p.Tyr156Cys) SNV Pathogenic 13227 rs121918558 3:165548355-165548355 3:165830567-165830567
5 NKX2-1 NM_001079668.3(NKX2-1):c.1204dup (p.Ter402LeuextTer?) Duplication Pathogenic 984956 14:36986484-36986485 14:36517279-36517280
6 MBIP NC_000014.8:g.(36407609_36463186)_(37638963_37670256)del Deletion Pathogenic 8972 14:36407609-37670256
7 NKX2-1 NM_001079668.3(NKX2-1):c.1050del (p.Gln350fs) Deletion Pathogenic 495058 rs1555349146 14:36986639-36986639 14:36517434-36517434
8 NKX2-1 NM_001079668.3(NKX2-1):c.745C>T (p.Gln249Ter) SNV Pathogenic 8980 rs137852694 14:36986944-36986944 14:36517739-36517739
9 NKX2-1 NM_001079668.3(NKX2-1):c.464-2A>T SNV Pathogenic 8978 rs587776708 14:36987227-36987227 14:36518022-36518022
10 NKX2-1 NM_001079668.3(NKX2-1):c.908del (p.Gly303fs) Deletion Pathogenic 8975 rs387906404 14:36986781-36986781 14:36517576-36517576
11 NKX2-1 NM_001079668.3(NKX2-1):c.713G>T (p.Trp238Leu) SNV Pathogenic 8974 rs28936672 14:36986976-36986976 14:36517771-36517771
12 NKX2-1 NM_001079668.3(NKX2-1):c.727C>A (p.Arg243Ser) SNV Pathogenic 8973 rs28936671 14:36986962-36986962 14:36517757-36517757
13 BCHE NM_000055.4(BCHE):c.428G>A (p.Gly143Asp) SNV Pathogenic/Likely pathogenic 344097 rs201820739 3:165548394-165548394 3:165830606-165830606
14 BCHE NM_000055.2(BCHE):c.293A>G (p.Asp98Gly) SNV Pathogenic/Likely pathogenic 13215 rs1799807 3:165548529-165548529 3:165830741-165830741
15 NKX2-1 NM_001079668.3(NKX2-1):c.613G>T (p.Glu205Ter) SNV Likely pathogenic 8979 rs137852693 14:36987076-36987076 14:36517871-36517871
16 BCHE NM_000055.4(BCHE):c.1284C>A (p.Cys428Ter) SNV Likely pathogenic 371014 rs762341786 3:165547538-165547538 3:165829750-165829750
17 BCHE NM_000055.4(BCHE):c.206_207del (p.Leu69fs) Deletion Likely pathogenic 370809 rs1057516784 3:165548615-165548616 3:165830827-165830828
18 BCHE NM_000055.4(BCHE):c.895G>T (p.Glu299Ter) SNV Likely pathogenic 370346 rs747196387 3:165547927-165547927 3:165830139-165830139
19 BCHE NM_000055.4(BCHE):c.439C>T (p.Gln147Ter) SNV Likely pathogenic 371104 rs760182781 3:165548383-165548383 3:165830595-165830595
20 BCHE NM_000055.4(BCHE):c.1183G>T (p.Glu395Ter) SNV Likely pathogenic 371372 rs1057517221 3:165547639-165547639 3:165829851-165829851
21 BCHE NM_000055.4(BCHE):c.495_498del (p.Arg166fs) Deletion Likely pathogenic 370518 rs772259613 3:165548324-165548327 3:165830536-165830539
22 BCHE NM_000055.4(BCHE):c.1528G>T (p.Glu510Ter) SNV Likely pathogenic 370431 rs1057516482 3:165504089-165504089 3:165786301-165786301
23 BCHE NM_000055.4(BCHE):c.493del (p.Glu165fs) Deletion Likely pathogenic 370709 rs1057516707 3:165548329-165548329 3:165830541-165830541
24 BCHE NM_000055.4(BCHE):c.1517+1G>T SNV Likely pathogenic 371367 rs1057517218 3:165547304-165547304 3:165829516-165829516
25 BCHE NM_000055.4(BCHE):c.1073dup (p.Leu358fs) Duplication Likely pathogenic 370388 rs1057516450 3:165547748-165547749 3:165829960-165829961
26 BCHE NM_000055.4(BCHE):c.662_663CT[2] (p.Phe223fs) Microsatellite Likely pathogenic 370179 rs747983616 3:165548155-165548156 3:165830367-165830368
27 BCHE NM_000055.4(BCHE):c.793del (p.Tyr265fs) Deletion Likely pathogenic 370364 rs778568717 3:165548029-165548029 3:165830241-165830241
28 BCHE NM_000055.4(BCHE):c.1684+1G>T SNV Likely pathogenic 370446 rs1057516496 3:165503932-165503932 3:165786144-165786144
29 BCHE NM_000055.4(BCHE):c.1576C>T (p.Gln526Ter) SNV Likely pathogenic 371275 rs1057517144 3:165504041-165504041 3:165786253-165786253
30 BCHE NM_000055.4(BCHE):c.757G>T (p.Gly253Ter) SNV Likely pathogenic 371455 rs140080572 3:165548065-165548065 3:165830277-165830277
31 BCHE NM_000055.4(BCHE):c.1027dup (p.Thr343fs) Duplication Likely pathogenic 370302 rs754214624 3:165547794-165547795 3:165830006-165830007
32 BCHE NM_000055.4(BCHE):c.1240del (p.Arg414fs) Deletion Likely pathogenic 371460 rs1057517288 3:165547582-165547582 3:165829794-165829794
33 BCHE NM_000055.4(BCHE):c.1015C>T (p.Gln339Ter) SNV Likely pathogenic 371431 rs1057517265 3:165547807-165547807 3:165830019-165830019
34 BCHE NM_000055.4(BCHE):c.110del (p.Lys37fs) Deletion Likely pathogenic 371648 rs1057517439 3:165548712-165548712 3:165830924-165830924
35 BCHE NM_000055.4(BCHE):c.635C>T (p.Ala212Val) SNV Likely pathogenic 370854 rs114706984 3:165548187-165548187 3:165830399-165830399
36 BCHE NM_000055.4(BCHE):c.619C>T (p.Gln207Ter) SNV Likely pathogenic 371356 rs1057517208 3:165548203-165548203 3:165830415-165830415
37 BCHE NM_000055.4(BCHE):c.1685-2A>G SNV Likely pathogenic 370447 rs779366544 3:165491296-165491296 3:165773508-165773508
38 BCHE NM_000055.4(BCHE):c.1004T>C (p.Leu335Pro) SNV Likely pathogenic 13228 rs104893684 3:165547818-165547818 3:165830030-165830030
39 NKX2-1 NM_001079668.3(NKX2-1):c.872C>G (p.Pro291Arg) SNV Likely pathogenic 689773 rs1057519223 14:36986817-36986817 14:36517612-36517612
40 NKX2-1 NM_001079668.3(NKX2-1):c.303_319del (p.Ala103fs) Deletion Likely pathogenic 807451 rs1594407006 14:36988334-36988350 14:36519129-36519145
41 BCHE NM_000055.4(BCHE):c.1372dup (p.Trp458fs) Duplication Likely pathogenic 550130 rs1553778044 3:165547449-165547450 3:165829661-165829662
42 BCHE NM_000055.4(BCHE):c.382C>T (p.Pro128Ser) SNV Likely pathogenic 552544 rs3732880 3:165548440-165548440 3:165830652-165830652
43 BCHE NM_000055.4(BCHE):c.662del (p.Thr221fs) Deletion Likely pathogenic 550242 rs1553778185 3:165548160-165548160 3:165830372-165830372
44 BCHE NM_000055.4(BCHE):c.149del (p.Gly50fs) Deletion Likely pathogenic 550337 rs762189020 3:165548673-165548673 3:165830885-165830885
45 BCHE NM_000055.4(BCHE):c.44G>A (p.Trp15Ter) SNV Likely pathogenic 551225 rs1553778291 3:165548778-165548778 3:165830990-165830990
46 BCHE NM_000055.4(BCHE):c.1240C>T (p.Arg414Cys) SNV Likely pathogenic 551265 rs745364489 3:165547582-165547582 3:165829794-165829794
47 BCHE NM_000055.4(BCHE):c.1030C>T (p.Gln344Ter) SNV Likely pathogenic 551274 rs1553778114 3:165547792-165547792 3:165830004-165830004
48 BCHE NM_000055.4(BCHE):c.1627C>T (p.Arg543Cys) SNV Likely pathogenic 551540 rs199660374 3:165503990-165503990 3:165786202-165786202
49 BCHE NM_000055.4(BCHE):c.1222C>T (p.Gln408Ter) SNV Likely pathogenic 551943 rs1278095773 3:165547600-165547600 3:165829812-165829812
50 BCHE NM_000055.4(BCHE):c.611del (p.Gln204fs) Deletion Likely pathogenic 558107 rs1553778198 3:165548211-165548211 3:165830423-165830423

UniProtKB/Swiss-Prot genetic disease variations for Chorea, Benign Hereditary:

73
# Symbol AA change Variation ID SNP ID
1 NKX2-1 p.Trp208Leu VAR_015188 rs28936672
2 NKX2-1 p.Arg213Ser VAR_015189 rs28936671
3 NKX2-1 p.Gln172His VAR_075209
4 NKX2-1 p.Trp208Ser VAR_075210

Expression for Chorea, Benign Hereditary

Search GEO for disease gene expression data for Chorea, Benign Hereditary.

Pathways for Chorea, Benign Hereditary

Pathways related to Chorea, Benign Hereditary according to KEGG:

36
# Name Kegg Source Accession
1 Thyroid hormone synthesis hsa04918

GO Terms for Chorea, Benign Hereditary

Biological processes related to Chorea, Benign Hereditary according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 locomotory behavior GO:0007626 8.62 NKX2-1 ADCY5

Molecular functions related to Chorea, Benign Hereditary according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 enzyme binding GO:0019899 8.62 NKX2-1 BCHE

Sources for Chorea, Benign Hereditary

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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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