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	gangliosidosis

Disease ID	1326
Disease	gangliosidosis
Definition	A group of autosomal recessive lysosomal storage disorders marked by the accumulation of GANGLIOSIDES. They are caused by impaired enzymes or defective cofactors required for normal ganglioside degradation in the LYSOSOMES. Gangliosidoses are classified by the specific ganglioside accumulated in the defective degradation pathway.
Synonym	disease, gangliosidosis ganglioside accumulation in nervous tissue lysosomes ganglioside storage dis ganglioside storage disease ganglioside storage disease, nos ganglioside storage diseases ganglioside storage disorder ganglioside storage disorders gangliosidoses gangliosidoses [disease/finding] gangliosidosis (disorder) gangliosidosis, nos storage disease, ganglioside storage diseases, ganglioside storage disorder, ganglioside storage disorders, ganglioside
Orphanet	ORPHANET:309144
DOID	DOID:2368
UMLS	C0017083
MeSH	D005733
SNOMED-CT	SNOMEDCT_US_2016_09_01:50967008
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:3) C0085084 \| motor neuron disease \| 1 C0085078 \| lysosomal storage disease \| 1 C0085078 \| lysosomal storage diseases \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:5) 2760 \| GM2A \| UniProtKB-KW 3073 \| HEXA \| UniProtKB-KW;GHR 3074 \| HEXB \| UniProtKB-KW;GHR 2720 \| GLB1 \| UniProtKB-KW 5660 \| PSAP \| UniProtKB-KW
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:58) 95 \| ACY1 \| 1.85 \| DISEASES 174 \| AFP \| 1.307 \| DISEASES 199 \| AIF1 \| 1.548 \| DISEASES 280 \| AMY2B \| 2.187 \| DISEASES 54840 \| APTX \| 1.062 \| DISEASES 23370 \| ARHGEF18 \| 3.126 \| DISEASES 347527 \| ARSH \| 2.11 \| DISEASES 85300 \| ATCAY \| 2.084 \| DISEASES 8706 \| B3GALNT1 \| 1.879 \| DISEASES 388372 \| CCL4L1 \| 1.002 \| DISEASES 10871 \| CD300C \| 1.496 \| DISEASES 1201 \| CLN3 \| 1.066 \| DISEASES 4850 \| CNOT4 \| 1.197 \| DISEASES 5476 \| CTSA \| 6.078 \| DISEASES 113612 \| CYP2U1 \| 2.111 \| DISEASES 55157 \| DARS2 \| 2.091 \| DISEASES 23259 \| DDHD2 \| 2.036 \| DISEASES 2108 \| ETFA \| 5.643 \| DISEASES 2170 \| FABP3 \| 1.204 \| DISEASES 342184 \| FMN1 \| 1.026 \| DISEASES 2520 \| GAST \| 1.784 \| DISEASES 57704 \| GBA2 \| 1.588 \| DISEASES 2760 \| GM2A \| 5.738 \| DISEASES 3476 \| IGBP1 \| 1.214 \| DISEASES 3482 \| IGF2R \| 2.054 \| DISEASES 80789 \| INTS5 \| 2.595 \| DISEASES 3748 \| KCNC3 \| 1.597 \| DISEASES 3916 \| LAMP1 \| 2.408 \| DISEASES 3920 \| LAMP2 \| 1.422 \| DISEASES 55353 \| LAPTM4B \| 1.311 \| DISEASES 4148 \| MATN3 \| 1.044 \| DISEASES 255231 \| MCOLN2 \| 6.005 \| DISEASES 10227 \| MFSD10 \| 2.314 \| DISEASES 25834 \| MGAT4C \| 2.167 \| DISEASES 10724 \| MGEA5 \| 6.253 \| DISEASES 643680 \| MS4A4E \| 2.175 \| DISEASES 4566 \| MT-TK \| 1.11 \| DISEASES 4668 \| NAGA \| 3.284 \| DISEASES 4758 \| NEU1 \| 4.012 \| DISEASES 129807 \| NEU4 \| 2.019 \| DISEASES 10577 \| NPC2 \| 1.734 \| DISEASES 23467 \| NPTXR \| 1.156 \| DISEASES 728606 \| PCAT18 \| 3.431 \| DISEASES 5367 \| PMCH \| 1.073 \| DISEASES 5521 \| PPP2R2B \| 1.231 \| DISEASES 5660 \| PSAP \| 3.836 \| DISEASES 57556 \| SEMA6A \| 1.596 \| DISEASES 79628 \| SH3TC2 \| 1.702 \| DISEASES 26503 \| SLC17A5 \| 2.216 \| DISEASES 50485 \| SMARCAL1 \| 1.313 \| DISEASES 6677 \| SPAM1 \| 1.351 \| DISEASES 8878 \| SQSTM1 \| 1.13 \| DISEASES 53373 \| TPCN1 \| 1.383 \| DISEASES 6399 \| TRAPPC2 \| 2.173 \| DISEASES 7223 \| TRPC4 \| 1.497 \| DISEASES 7227 \| TRPS1 \| 1.304 \| DISEASES 7306 \| TYRP1 \| 1.368 \| DISEASES 7357 \| UGCG \| 2.507 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1326
Disease	gangliosidosis
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:5) HP:0010512 \| Adrenal calcification \| 1 HP:0002333 \| Progressive degeneration of movement \| 1 HP:0007272 \| Progressive psychomotor deterioration \| 1 HP:0002376 \| Loss of developmental milestones \| 1 HP:0002361 \| Psychomotor degeneration \| 1

Disease ID	1326
Disease	gangliosidosis
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:1)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121907981	9603435	3073	HEXA	umls:C0017083	BeFree	We identified a 1422 G-->C (amino acid W474C) substitution in the first position of exon 13 of HEXA of a non-Jewish proband who manifested a subacute variant of G(M2) gangliosidosis.	0.000814326	1998	HEXA	15	72345550	C	G

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	1326
Disease	gangliosidosis
Case	(Waiting for update.)

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