Engels

The dataset includes molecular phenotype data (e.g. gene symbol/isoform, mutation specifics at cDNA/AA level), inheritance information and basic sociodemographic data.

6 Formulieren  
pht002577
Beschrijving

pht002577

Alias
UMLS CUI [1,1]
C3846158
De-identified Subject ID
Beschrijving

SUBJID

Datatype

string

Alias
UMLS CUI [1,1]
C2348585
UMLS CUI [1,2]
C4684638
Gender of participant
Beschrijving

Sex

Datatype

text

Alias
UMLS CUI [1,1]
C0079399
Ethnicity of participant
Beschrijving

Ethnicity

Datatype

string

Alias
UMLS CUI [1,1]
C0015031
Disease name
Beschrijving

Disease

Datatype

string

Alias
UMLS CUI [1,1]
C0012634
UMLS CUI [1,2]
C0027365
MeSH term
Beschrijving

MeSH

Datatype

string

Alias
UMLS CUI [1,1]
C1135584
Entrez Gene ID
Beschrijving

GeneID

Datatype

text

Alias
UMLS CUI [1,1]
C1707925
UMLS CUI [1,2]
C1706509
Gene symbol
Beschrijving

GeneName

Datatype

string

Alias
UMLS CUI [1,1]
C1706510
Gene isoform for mutation nomenclature
Beschrijving

GeneIsoform

Datatype

string

Alias
UMLS CUI [1,1]
C0017337
UMLS CUI [1,2]
C0026882
UMLS CUI [1,3]
C0600281
Pathogenic mutation at the cDNA level
Beschrijving

MutcDNA

Datatype

string

Alias
UMLS CUI [1,1]
C3816499
UMLS CUI [1,2]
C0006556
Pathogenic mutation at the amino acid level
Beschrijving

MutProtein

Datatype

string

Alias
UMLS CUI [1,1]
C3816499
UMLS CUI [1,2]
C0002520
Inheritance of the mutation
Beschrijving

Inheritance

Datatype

string

Alias
UMLS CUI [1,1]
C0728826
UMLS CUI [1,2]
C0026882
Terug naar het begin van de pagina

Similar models

The dataset includes molecular phenotype data (e.g. gene symbol/isoform, mutation specifics at cDNA/AA level), inheritance information and basic sociodemographic data.

6 Formulieren
Name
Type
Description | Question | Decode (Coded Value)
Datatype
Alias
Item Group
pht002577
C3846158 (UMLS CUI [1,1])
SUBJID
Item
De-identified Subject ID
string
C2348585 (UMLS CUI [1,1])
C4684638 (UMLS CUI [1,2])
Item
Gender of participant
text
C0079399 (UMLS CUI [1,1])
Sex
Code List
Gender of participant
CL Item
Male (M)
C0086582 (UMLS CUI [1,1])
CL Item
Female (F)
C0086287 (UMLS CUI [1,1])
Ethnicity
Item
Ethnicity of participant
string
C0015031 (UMLS CUI [1,1])
Disease
Item
Disease name
string
C0012634 (UMLS CUI [1,1])
C0027365 (UMLS CUI [1,2])
MeSH
Item
MeSH term
string
C1135584 (UMLS CUI [1,1])
Item
Entrez Gene ID
text
C1707925 (UMLS CUI [1,1])
C1706509 (UMLS CUI [1,2])
GeneID
Code List
Entrez Gene ID
CL Item
Not applicable (0)
GeneName
Item
Gene symbol
string
C1706510 (UMLS CUI [1,1])
GeneIsoform
Item
Gene isoform for mutation nomenclature
string
C0017337 (UMLS CUI [1,1])
C0026882 (UMLS CUI [1,2])
C0600281 (UMLS CUI [1,3])
MutcDNA
Item
Pathogenic mutation at the cDNA level
string
C3816499 (UMLS CUI [1,1])
C0006556 (UMLS CUI [1,2])
MutProtein
Item
Pathogenic mutation at the amino acid level
string
C3816499 (UMLS CUI [1,1])
C0002520 (UMLS CUI [1,2])
Inheritance
Item
Inheritance of the mutation
string
C0728826 (UMLS CUI [1,1])
C0026882 (UMLS CUI [1,2])
Terug naar het begin van de pagina