Gene2Function

Disease Annotation

Gene Info

Species: Human (Homo sapiens)
GeneID: 4000
Symbol: LMNA
Description: lamin A/C

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Disease_Term	Source	Rank	Other Values
Mandibuloacral dysplasia, 248370 (3)	OMIM	high	Genome region : 1q22 OMIM_ID : 150330 OMIM gene ID OMIM_ID : 248370 OMIM phenotype ID
Charcot-Marie-Tooth disease, type 2B1, 605588 (3)	OMIM	high	Genome region : 1q22 OMIM_ID : 150330 OMIM gene ID OMIM_ID : 605588 OMIM phenotype ID
Hutchinson-Gilford progeria, 176670 (3)	OMIM	high	Genome region : 1q22 OMIM_ID : 150330 OMIM gene ID OMIM_ID : 176670 OMIM phenotype ID
Muscular dystrophy, congenital, 613205 (3)	OMIM	high	Genome region : 1q22 OMIM_ID : 150330 OMIM gene ID OMIM_ID : 613205 OMIM phenotype ID
Emery-Dreifuss muscular dystrophy 2, AD, 181350 (3)	OMIM	high	Genome region : 1q22 OMIM_ID : 150330 OMIM gene ID OMIM_ID : 181350 OMIM phenotype ID
Lipodystrophy, familial partial, type 2, 151660 (3)	OMIM	high	Genome region : 1q22 OMIM_ID : 150330 OMIM gene ID OMIM_ID : 151660 OMIM phenotype ID
Muscular dystrophy, limb-girdle, type 1B, 159001 (3)	OMIM	high	Genome region : 1q22 OMIM_ID : 150330 OMIM gene ID OMIM_ID : 159001 OMIM phenotype ID
Emery-Dreifuss muscular dystrophy 3, AR, 616516 (3)	OMIM	high	Genome region : 1q22 OMIM_ID : 150330 OMIM gene ID OMIM_ID : 616516 OMIM phenotype ID
Malouf syndrome, 212112 (3)	OMIM	high	Genome region : 1q22 OMIM_ID : 150330 OMIM gene ID OMIM_ID : 212112 OMIM phenotype ID
Cardiomyopathy, dilated, 1A, 115200 (3)	OMIM	high	Genome region : 1q22 OMIM_ID : 115200 OMIM phenotype ID OMIM_ID : 150330 OMIM gene ID
Restrictive dermopathy, lethal, 275210 (3)	OMIM	high	Genome region : 1p34.2 Genome region : 1q22 OMIM_ID : 150330 OMIM gene ID OMIM_ID : 275210 OMIM phenotype ID OMIM_ID : 606480 OMIM gene ID
Heart-hand syndrome, Slovenian type, 610140 (3)	OMIM	high	Genome region : 1q22 OMIM_ID : 150330 OMIM gene ID OMIM_ID : 610140 OMIM phenotype ID