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encyclopedia of Rare Disease Annotation for Precision Medicine

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	coffin siris syndrome

Disease ID	1648
Disease	coffin siris syndrome
Definition	A rare genetic disorder with an undetermined pattern of inheritance affecting mostly females. Clinical signs at birth include recurrent respiratory infections, poor feeding, hypotonia, joint laxity and characteristic shortened fifth digits with hypoplastic or absent nails and craniofacial appearance: microcephaly, wide nose and lips, sparse scalp hair but thick eyebrows and eyelashes. The clinical course includes developmental delays in motor skills and speech with associated moderate mental retardation.
Synonym	coffin-siris syndrome coffin-siris syndrome (disorder) css fifth digit syndrome
Orphanet	ORPHANET:1465
OMIM	OMIM:135900
DOID	DOID:1925
UMLS	C0265338
SNOMED-CT	SNOMEDCT_US_2016_09_01:10007009
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:2) C0221355 \| macrocephaly \| 1 C0028754 \| obesity \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:7) 8289 \| ARID1A \| CTD_human;ORPHANET;GHR 6598 \| SMARCB1 \| CTD_human;ORPHANET;GHR 6595 \| SMARCA2 \| CTD_human 6605 \| SMARCE1 \| CLINVAR;CTD_human;ORPHANET;GHR 6597 \| SMARCA4 \| CTD_human;ORPHANET;GHR 57492 \| ARID1B \| CTD_human;ORPHANET;GHR 6664 \| SOX11 \| ORPHANET
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:21) 11174 \| ADAMTS6 \| 3.661 \| DISEASES 23394 \| ADNP \| 2.523 \| DISEASES 8289 \| ARID1A \| 4.799 \| DISEASES 57492 \| ARID1B \| 6.734 \| DISEASES 196528 \| ARID2 \| 2.826 \| DISEASES 1108 \| CHD4 \| 2.678 \| DISEASES 10447 \| FAM3C \| 3.113 \| DISEASES 2903 \| GRIN2A \| 1.416 \| DISEASES 3065 \| HDAC1 \| 1.117 \| DISEASES 54900 \| LAX1 \| 3.269 \| DISEASES 5080 \| PAX6 \| 1.147 \| DISEASES 84295 \| PHF6 \| 5.207 \| DISEASES 5362 \| PLXNA2 \| 2.848 \| DISEASES 23186 \| RCOR1 \| 2.81 \| DISEASES 4920 \| ROR2 \| 2.722 \| DISEASES 55209 \| SETD5 \| 3.591 \| DISEASES 85358 \| SHANK3 \| 2.223 \| DISEASES 6597 \| SMARCA4 \| 5.361 \| DISEASES 6605 \| SMARCE1 \| 6.147 \| DISEASES 6664 \| SOX11 \| 3.919 \| DISEASES 89910 \| UBE3B \| 2.417 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1648
Disease	coffin siris syndrome
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:4) HP:0001792 \| Hypoplastic nails \| 1 HP:0000256 \| Macrocrania \| 1 HP:0001513 \| Obesity \| 1 HP:0002240 \| Enlarged liver \| 1

Disease ID	1648
Disease	coffin siris syndrome
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
rs387906857	NA	6605	SMARCE1	umls:C0265338	CLINVAR	NA	0.360271442	NA	SMARCE1	17	40637511	T	C

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	1648
Disease	coffin siris syndrome
Case	(Waiting for update.)

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