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