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  Mim number
Name of disease
ICD identifier
ICD name
anatomic origin type of cells Nb of persons Bank Contact Last update Date  
  602544
Parkin, Park2
G20
Parkinson Disease
Integumentary System Fibroblasts 2 garavaglia@istituto-besta.it 2010-08-26  
  608309
PTEN-Induced Putative Kinase1; PINK1
G20
Parkinson Disease
Integumentary System Fibroblasts 1 garavaglia@istituto-besta.it 2010-08-26  
  600225
GTP CycloHydrolase I; GCH1
G24
Dystonia
Integumentary System Fibroblasts 2 garavaglia@istituto-besta.it 2010-08-26  
  604149
Sarcoglycan Epsilon; SCGE
G24
Dystonia
Integumentary System Fibroblasts 2 garavaglia@istituto-besta.it 2010-08-26  
  261640
6-PYRUVOYL-TETRAHYDROPTERIN SYNTHASE; PTS
G24
Dystonia
Integumentary System Fibroblasts 1 garavaglia@istituto-besta.it 2010-08-26  
  182125
SEPIAPTERIN REDUCTASE; SPR
G24
Dystonia
Integumentary System Fibroblasts 1 garavaglia@istituto-besta.it 2010-08-26  
  606157
Pantothenate Kinase2; Pank2
G23.0
Hallervorden-Spatz Disease
Integumentary System Fibroblasts 14 garavaglia@istituto-besta.it 2010-08-26  
  182600
SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT; SPG3A,
G 11.4
Strumpell-Lorrain syndrome
Blood Lymphocytes 51 mposada@isciii.es 2010-08-26  
  33303350
Hereditary spastic paraplegia
G 11.4
Hereditary spastic paraplegia
Blood Lymphocytes 49 mposada@isciii.es 2010-08-26  
  231000
GAUCHER DISEASE, TYPE III

Gaucher, disease
Blood Lymphocytes 3 mposada@isciii.es 2010-08-26  
  176270
PRADER-WILLI SYNDROME; PWS
Q 87.1
Prader Willi syndrome
Blood Lymphocytes 1 mposada@isciii.es 2010-08-26  
  151800
LIPOMATOSIS, FAMILIAL BENIGN CERVICAL
E 88.8
Lipomatosis
Blood Lymphocytes 1 mposada@isciii.es 2010-08-26  
  109650
Behcet SYNDROME
M 35.2
Behcet's Disease
Blood Lymphocytes 25 mposada@isciii.es 2010-08-26  
 
Chronic Fatigue Syndrome
G 93.3
Chronic Fatigue Syndrome
Blood Lymphocytes 1 mposada@isciii.es 2010-08-26  
  260400
SHWACHMAN-DIAMOND SYNDROME; SDS
D61.0
Schwasman syndrome
Blood Lymphocytes 2 mposada@isciii.es 2010-08-26  
  106100
ANGIOEDEMA, HEREDITARY; HAE/ANGIONEUROTIC EDEMA
D 84.1
C1-inhibidor deficiency
Blood Lymphocytes 2 mposada@isciii.es 2010-08-26  
  608710
WEGENER GRANULOMATOSIS
E 31.3
Wegener's Granulomatosis
Blood Lymphocytes 1 mposada@isciii.es 2010-08-26  
  151620 (Lichen Planus Familiar)
Lichen Planus Folicularis

Plane Liquen
Blood Lymphocytes 1 mposada@isciii.es 2010-08-26  
  607685
HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC; HES
D72.1
Hypereosinophilic syndrome
Blood Lymphocytes 1 mposada@isciii.es 2010-08-26  
  107400
ALPHA-1-ANTITRYPSIN DEFICIENCY
E 88.0
Alpha-1-antitrypsin deficit
Blood Lymphocytes 1 mposada@isciii.es 2010-08-26  
 
Polymyosistis
M 33.2
Polymyosistis
Blood Lymphocytes 3 mposada@isciii.es 2010-08-26  
  201400
ACTH DEFICIENCY
E 27.1
ACTH deficiency
Blood Lymphocytes 1 mposada@isciii.es 2010-08-26  
  143100
HUNTINGTON DISEASE; HD
G 10
Huntington’s Disease
Blood Lymphocytes 2 mposada@isciii.es 2010-08-26  
  160900
Myotonic dystrophy type 1
G 71.1
Steinert Disease
Blood Lymphocytes 7 mposada@isciii.es 2010-08-26  
  137580
GILLES DE LA TOURETTE SYNDROME; GTS
F 95.2
Tourette Syndrome
Blood Lymphocytes 1 mposada@isciii.es 2010-08-26  

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Last updated on 2010/08/26