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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Disease Browser
Parent Node: Cerebral Palsy (D002547)
..Starting node ..Cerebral Palsy, Spastic Quadriplegic, 1 (C567853)
Child Nodes:
Sister Nodes:
..Cerebral Palsy, Ataxic, Autosomal Recessive (C562856)
..Cerebral Palsy, Spastic Quadriplegic, 1 (C567853)
..Cerebral Palsy, Spastic Quadriplegic, 2 (C567867)
..Cerebral palsy, spastic, diplegic (C537945)
..Dysmyelination With Jaundice (C565610)
..Epilepsy, Photogenic, with Spastic Diplegia and Mental Retardation (C565587)
..Neuhauser syndrome (C536143)
..Paine syndrome (C538101)
..Renpenning syndrome 1 (C537761)
..Spastic Paraplegia-50, Autosomal Recessive (C567858)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

1950

Name:

Cerebral Palsy, Spastic Quadriplegic, 1

Definition:

Alternative IDs:

OMIM:603513

ParentIDs:

MESH:D002547

TreeNumbers:

C10.228.140.140.254/C567853

Synonyms:

CPSQ1

Slim Mappings:

Nervous system disease

Reference:

MedGen: C567853
MeSH: C567853
OMIM: 603513;

Genes: GAD1;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003593	Infantile onset
3	HP:0003487	Babinski sign
4	HP:0100021	Cerebral palsy
5	HP:0001371	Flexion contracture
6	HP:0001263	Global developmental delay
7	HP:0001425	Heterogeneous
8	HP:0001347	Hyperreflexia
9	HP:0001249	Intellectual disability
10	HP:0000252	Microcephaly
11	HP:0002650	Scoliosis
12	HP:0001250	Seizure
13	HP:0001264	Spastic diplegia
14	HP:0002510	Spastic tetraplegia

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar	Disease_hgmd
NM_000817.2(GAD1):c.35C>G (p.Ser12Cys)	2571	GAD1	Pathogenic	121918345	RCV000005363;	N	MedGen:C2751938,OMIM:603513	2	171675136	171675136	NM_000817.2:c.35C>G	NP_000808.2:p.Ser12Cys	NC_000002.11:g.171675136C>G	OMIM Allelic Variant:605363.0001	C2751938 603513 Cerebral palsy, spastic quadriplegic, 1