Entry Search - 248800 608005 - OMIM
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Search: '248800 608005 (Search in: MIM number)'
Results: 2 entries.

1:
* 608005. SIL1 NUCLEOTIDE EXCHANGE FACTOR; SIL1
Cytogenetic location: 5q31.2, Genomic coordinates (GRCh38): 5:138,946,724-139,198,368
Matching terms: 608005
► Gene-Phenotype Relationships  ► ICD+  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
5q31.2 Marinesco-Sjogren syndrome 248800 AR 3
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ICD+
SNOMEDCT: 80734006
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2:
# 248800. MARINESCO-SJOGREN SYNDROME; MSS
Cytogenetic location: 5q31.2
Matching terms: 248800
► Phenotype-Gene Relationships  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
5q31.2 Marinesco-Sjogren syndrome 248800 AR 3 SIL1 608005
▲ Close
ICD+
SNOMEDCT: 80734006
ORPHA: 559
DO: 0080195
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Search: 248800 608005 (Search in: MIM number)
Results: 2 entries.

1:
* 608005. SIL1 NUCLEOTIDE EXCHANGE FACTOR; SIL1
Cytogenetic location: 5q31.2, Genomic coordinates (GRCh38): 5:138,946,724-139,198,368
Matching terms: 608005

2:
# 248800. MARINESCO-SJOGREN SYNDROME; MSS
Cytogenetic location: 5q31.2
Matching terms: 248800


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OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2025 Johns Hopkins University.

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2025 Johns Hopkins University.
Printed: March 5, 2025