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	pearson marrow-pancreas syndrome

Disease ID	1124
Disease	pearson marrow-pancreas syndrome
Definition	A rare syndrome with poor prognosis caused by single, large deletions of mitochondrial DNA. It usually presents in infancy with bone marrow failure, anemia, neutropenia, thrombocytopenia, vacuolation of the hematopoietic precursor cells, lactic acidosis, and fibrosis and acinar atrophy of the pancreas that results in malabsorption and chronic diarrhea. Approximately half of the patients die in infancy or early childhood.
Synonym	pearson syndrome pearson's marrow-pancreas syndrome pearson's syndrome pearson's syndrome (disorder)
Orphanet	ORPHANET:699
OMIM	OMIM:557000
DOID	DOID:0060067
UMLS	C0342784
SNOMED-CT	SNOMEDCT_US_2016_09_01:237985009
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:3) C0007570 \| celiac disease \| 1 C0023895 \| hepatopathy \| 1 C0342727 \| 3-methylglutaconic aciduria \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 37 \| ACADVL \| CLINVAR
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:20) 212 \| ALAS2 \| 3.772 \| DISEASES 617 \| BCS1L \| 2.302 \| DISEASES 5476 \| CTSA \| 3.196 \| DISEASES 2271 \| FH \| 2.379 \| DISEASES 2623 \| GATA1 \| 2.83 \| DISEASES 85476 \| GFM1 \| 3.084 \| DISEASES 51218 \| GLRX5 \| 3.56 \| DISEASES 3077 \| HFE \| 1.307 \| DISEASES 4508 \| MT-ATP6 \| 2.483 \| DISEASES 4513 \| MT-CO2 \| 2.606 \| DISEASES 4514 \| MT-CO3 \| 2.442 \| DISEASES 4519 \| MT-CYB \| 2.119 \| DISEASES 4537 \| MT-ND3 \| 2.981 \| DISEASES 4538 \| MT-ND4 \| 3.348 \| DISEASES 4540 \| MT-ND5 \| 2.612 \| DISEASES 4541 \| MT-ND6 \| 2.47 \| DISEASES 4566 \| MT-TK \| 4.461 \| DISEASES 80324 \| PUS1 \| 3.841 \| DISEASES 8802 \| SUCLG1 \| 3.309 \| DISEASES 54790 \| TET2 \| 2.902 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1124
Disease	pearson marrow-pancreas syndrome
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:2) HP:0002608 \| Celiac disease \| 1 HP:0003535 \| 3-Methylglutaconic aciduria \| 1

Disease ID	1124
Disease	pearson marrow-pancreas syndrome
Manually Symptom	UMLS \| Name(Total Manually Symptoms:1) C0030312 \| pancytopenia
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:32)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs113690956	NA	37	ACADVL	umls:C0342784	CLINVAR	NA	0.121900093	NA	ACADVL;MIR324	17	7223238	G	A,T
rs113994167	NA	37	ACADVL	umls:C0342784	CLINVAR	NA	0.121900093	NA	ACADVL	17	7222272	T	C
rs113994168	NA	37	ACADVL	umls:C0342784	CLINVAR	NA	0.121900093	NA	ACADVL	17	7222203	C	T
rs113994169	NA	37	ACADVL	umls:C0342784	CLINVAR	NA	0.121900093	NA	ACADVL;MIR324	17	7223687	C	G,T
rs113994170	NA	37	ACADVL	umls:C0342784	CLINVAR	NA	0.121900093	NA	ACADVL;MIR324	17	7224040	C	T
rs113994171	NA	37	ACADVL	umls:C0342784	CLINVAR	NA	0.121900093	NA	ACADVL;MIR324	17	7224636	G	A
rs118204014	NA	37	ACADVL	umls:C0342784	CLINVAR	NA	0.121900093	NA	ACADVL;DVL2;MIR324	17	7224966	C	T
rs118204015	NA	37	ACADVL	umls:C0342784	CLINVAR	NA	0.121900093	NA	ACADVL;MIR324	17	7223199	A	C
rs118204016	NA	37	ACADVL	umls:C0342784	CLINVAR	NA	0.121900093	NA	ACADVL;MIR324	17	7223984	G	A
rs118204017	NA	37	ACADVL	umls:C0342784	CLINVAR	NA	0.121900093	NA	ACADVL;MIR324	17	7224007	T	C
rs118204018	NA	37	ACADVL	umls:C0342784	CLINVAR	NA	0.121900093	NA	ACADVL;MIR324	17	7223707	G	A,T
rs140629318	NA	37	ACADVL	umls:C0342784	CLINVAR	NA	0.121900093	NA	ACADVL;DLG4	17	7221966	G	A,C
rs148584617	NA	37	ACADVL	umls:C0342784	CLINVAR	NA	0.121900093	NA	ACADVL;DVL2;MIR324	17	7224973	G	A
rs2309689	NA	37	ACADVL	umls:C0342784	CLINVAR	NA	0.121900093	NA	ACADVL;MIR324	17	7223865	G	A
rs28934585	NA	37	ACADVL	umls:C0342784	CLINVAR	NA	0.121900093	NA	ACADVL;DLG4	17	7220519	C	T
rs369560930	NA	37	ACADVL	umls:C0342784	CLINVAR	NA	0.121900093	NA	ACADVL;DLG4	17	7221580	G	A,T
rs387906249	NA	37	ACADVL	umls:C0342784	CLINVAR	NA	0.121900093	NA	ACADVL;DLG4	17	7220924	G	-
rs387906251	NA	37	ACADVL	umls:C0342784	CLINVAR	NA	0.121900093	NA	ACADVL;DLG4	17	7220969	GAG	-
rs387906252	NA	37	ACADVL	umls:C0342784	CLINVAR	NA	0.121900093	NA	ACADVL	17	7222683	AAG	-
rs387906253	NA	37	ACADVL	umls:C0342784	CLINVAR	NA	0.121900093	NA	ACADVL	17	7222068	A	C
rs398123080	NA	37	ACADVL	umls:C0342784	CLINVAR	NA	0.121900093	NA	ACADVL;MIR324	17	7223161	T	C
rs398123082	NA	37	ACADVL	umls:C0342784	CLINVAR	NA	0.121900093	NA	ACADVL;MIR324	17	7224024	-	G
rs398123083	NA	37	ACADVL	umls:C0342784	CLINVAR	NA	0.121900093	NA	ACADVL;MIR324	17	7224041	G	A
rs398123091	NA	37	ACADVL	umls:C0342784	CLINVAR	NA	0.121900093	NA	ACADVL;DLG4	17	7221993	G	A
rs398123092	NA	37	ACADVL	umls:C0342784	CLINVAR	NA	0.121900093	NA	ACADVL	17	7222175	A	C
rs727503788	NA	37	ACADVL	umls:C0342784	CLINVAR	NA	0.121900093	NA	ACADVL;DLG4	17	7220124	C	A,T
rs727503794	NA	37	ACADVL	umls:C0342784	CLINVAR	NA	0.121900093	NA	ACADVL;MIR324	17	7224244	G	A
rs753108198	NA	37	ACADVL	umls:C0342784	CLINVAR	NA	0.121900093	NA	ACADVL	17	7222675	CT	-
rs786204536	NA	37	ACADVL	umls:C0342784	CLINVAR	NA	0.121900093	NA	ACADVL;DLG4	17	7222014	C	T
rs786204713	NA	37	ACADVL	umls:C0342784	CLINVAR	NA	0.121900093	NA	ACADVL;DLG4	17	7220786	CA	-
rs786204738	NA	37	ACADVL	umls:C0342784	CLINVAR	NA	0.121900093	NA	ACADVL;DLG4	17	7221014	C	T
rs794727113	NA	37	ACADVL	umls:C0342784	CLINVAR	NA	0.121900093	NA	ACADVL;MIR324	17	7223992	C	T

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	1124
Disease	pearson marrow-pancreas syndrome
Case	(Waiting for update.)