Global Variome shared LOVD
SLC35C1 (solute carrier family 35, member C1)
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Phenotypes for disease #01218 (Burkitt lymphoma, OMIM:113970)
Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
Phenotype details
: additional information on the phenotype of the individual, preferably use HPO terms only (http://www.human-phenotype-ontology.org/)
Diagnosis/Initial
: initial diagnosis, before molecular testing
Diagnosis/Definite
: phenotype individual after molecular testing (OMIM abbreviation)
Inheritance
: Indicates the inheritance of the phenotype in the family; unknown, familial (autosomal/X-linked, dominant/ recessive), paternal (Y-linked), maternal (mitochondrial), isolated (sporadic) or complex
All options:
Unknown
Familial
Familial, autosomal dominant
Familial, autosomal recessive
Familial, X-linked
Familial, X-linked dominant
Familial, X-linked dominant, male sparing
Familial, X-linked recessive
Paternal, Y-linked
Maternal, mitochondrial
Isolated (sporadic)
Di-genic
Complex
- = Not applicable
Age/Examination
: age at which the individual was examined.
35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown
Age/Diagnosis
: age diagnosis was confirmed
35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown
Age/Onset
: Age first symptoms disease appeared in individual:
35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown
Phenotype/Onset
: individual's phenotype at Age/Onset described using HPO
Protein
: result from protein staining
How to query this table
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Operator
Column type
Example
Matches
Text
Arg
all entries containing 'Arg'
space
Text
Arg Ser
all entries containing 'Arg' and 'Ser'
|
Text
Arg|Ser
all entries containing 'Arg' or 'Ser'
!
Text
!fs
all entries not containing 'fs'
^
Text
^p.(Arg
all entries beginning with 'p.(Arg'
$
Text
Ser)$
all entries ending with 'Ser)'
=""
Text
=""
all entries with this field empty
=""
Text
="p.0"
all entries exactly matching 'p.0'
!=""
Text
!=""
all entries with this field not empty
!=""
Text
!="p.0"
all entries not exactly matching 'p.0?'
combination
Text
*|Ter !fs
all entries containing '*' or 'Ter' but not containing 'fs'
Date
2020
all entries matching the year 2020
|
Date
2020-03|2020-04
all entries matching March or April, 2020
!
Date
!2020-03
all entries not matching March, 2020
<
Date
<2020
all entries before the year 2020
<=
Date
<=2020-06
all entries in or before June, 2020
>
Date
>2020-06
all entries after June, 2020
>=
Date
>=2020-06-15
all entries on or after June 15th, 2020
combination
Date
2019|2020 <2020-03
all entries in 2019 or 2020, and before March, 2020
Numeric
23
all entries exactly matching 23
|
Numeric
23|24
all entries exactly matching 23 or 24
!
Numeric
!23
all entries not exactly matching 23
<
Numeric
<23
all entries lower than 23
<=
Numeric
<=23
all entries lower than, or equal to, 23
>
Numeric
>23
all entries higher than 23
>=
Numeric
>=23
all entries higher than, or equal to, 23
combination
Numeric
>=20 <30 !23
all entries with values from 20 to 29, but not equal to 23
Some more advanced examples:
Example
Matches
Asian
all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian
all entries containing 'Asian' but not containing 'Caucasian'
Asian|African !Caucasian
all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"
all entries containing 'South Asian', but not containing 'South East Asian'
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63 entries on 1 page. Showing entries 1 - 63.
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Legend
How to query
Phenotype ID
Phenotype details
Diagnosis/Initial
Diagnosis/Definite
Inheritance
Age/Examination
Age/Diagnosis
Age/Onset
Phenotype/Onset
Protein
Owner
Individual ID
0000042069
-
-
-
Familial, autosomal dominant
-
-
-
-
-
Michel van Geel
00055414
0000042072
-
-
-
Familial
-
39y
0d
-
-
Michel van Geel
00055417
0000042079
-
-
-
Familial
-
19y
0d
-
-
Michel van Geel
00055424
0000042104
-
-
-
Unknown
-
-
-
-
-
Michel van Geel
00055449
0000042105
ather with epidermolytic epidermal naevi
-
-
Isolated (sporadic)
-
-
0d
-
-
Michel van Geel
00055450
0000042106
mother with epidermolytic epidermal naevi
-
-
Isolated (sporadic)
-
-
0d
-
-
Michel van Geel
00055451
0000042115
-
-
-
Unknown
-
-
-
-
-
Michel van Geel
00055460
0000042116
-
-
-
Familial, autosomal dominant
-
-
-
-
-
Michel van Geel
00055461
0000042117
-
-
-
Unknown
-
-
-
-
-
Michel van Geel
00055462
0000042118
-
-
-
Unknown
-
-
-
-
-
Michel van Geel
00055463
0000042120
-
-
-
Unknown
-
-
-
-
-
Michel van Geel
00055465
0000042121
-
-
-
Unknown
-
-
-
-
-
Michel van Geel
00055466
0000042122
-
-
-
Unknown
-
-
-
-
-
Michel van Geel
00055467
0000042123
-
-
-
Unknown
-
-
-
-
-
Michel van Geel
00055468
0000042124
-
-
-
Unknown
-
-
-
-
-
Michel van Geel
00055469
0000042125
-
-
-
Unknown
-
-
-
-
-
Michel van Geel
00055470
0000042126
-
-
-
Unknown
-
-
-
-
-
Michel van Geel
00055471
0000042127
-
-
-
Unknown
-
-
-
-
-
Michel van Geel
00055472
0000042128
-
-
-
Unknown
-
-
-
-
-
Michel van Geel
00055473
0000042129
-
-
-
Unknown
-
-
-
-
-
Michel van Geel
00055474
0000042130
-
-
-
Unknown
-
-
-
-
-
Michel van Geel
00055475
0000042131
-
-
-
Unknown
-
-
-
-
-
Michel van Geel
00055476
0000042132
-
-
-
Unknown
-
-
-
-
-
Michel van Geel
00055477
0000042133
-
-
-
Unknown
-
-
-
-
-
Michel van Geel
00055478
0000042134
-
-
-
Unknown
-
-
-
-
-
Michel van Geel
00055479
0000042135
-
-
-
Unknown
-
-
-
-
-
Michel van Geel
00055480
0000042136
-
-
-
Unknown
-
-
-
-
-
Michel van Geel
00055481
0000042137
-
-
-
Unknown
-
-
-
-
-
Michel van Geel
00055482
0000042138
-
-
-
Unknown
-
-
-
-
-
Michel van Geel
00055483
0000042140
-
-
-
Unknown
-
-
-
-
-
Michel van Geel
00055485
0000042141
-
-
-
Unknown
-
-
-
-
-
Michel van Geel
00055486
0000042142
-
-
-
Unknown
-
-
-
-
-
Michel van Geel
00055487
0000042144
-
-
-
Unknown
-
-
-
-
-
Michel van Geel
00055489
0000042145
-
-
-
Unknown
-
-
-
-
-
Michel van Geel
00055490
0000042146
-
-
-
Unknown
-
-
-
-
-
Michel van Geel
00055491
0000042147
-
-
-
Unknown
-
-
-
-
-
Michel van Geel
00055492
0000042148
-
-
-
Unknown
-
-
-
-
-
Michel van Geel
00055493
0000042149
-
-
-
Unknown
-
-
-
-
-
Michel van Geel
00055494
0000042150
-
-
-
Unknown
-
-
-
-
-
Michel van Geel
00055495
0000042151
-
-
-
Unknown
-
-
-
-
-
Michel van Geel
00055496
0000042152
-
-
-
Unknown
-
-
-
-
-
Michel van Geel
00055497
0000042153
-
-
-
Unknown
-
-
-
-
-
Michel van Geel
00055498
0000042154
-
-
-
Unknown
-
-
-
-
-
Michel van Geel
00055499
0000042155
-
-
-
Unknown
-
-
-
-
-
Michel van Geel
00055500
0000042156
-
-
-
Unknown
-
-
-
-
-
Michel van Geel
00055501
0000042157
-
-
-
Unknown
-
-
-
-
-
Michel van Geel
00055502
0000042158
-
-
-
Unknown
-
-
-
-
-
Michel van Geel
00055503
0000042159
-
-
-
Unknown
-
-
-
-
-
Michel van Geel
00055504
0000042160
-
-
-
Unknown
-
-
-
-
-
Michel van Geel
00055505
0000042161
-
-
-
Unknown
-
-
-
-
-
Michel van Geel
00055506
0000042162
-
-
-
Unknown
-
-
-
-
-
Michel van Geel
00055507
0000042163
-
-
-
Unknown
-
-
-
-
-
Michel van Geel
00055508
0000042164
-
-
-
Unknown
-
-
-
-
-
Michel van Geel
00055509
0000042165
-
-
-
Unknown
-
-
-
-
-
Michel van Geel
00055510
0000042166
-
-
-
Unknown
-
-
-
-
-
Michel van Geel
00055511
0000042167
-
-
-
Unknown
-
-
-
-
-
Michel van Geel
00055512
0000042168
-
-
-
Unknown
-
-
-
-
-
Michel van Geel
00055513
0000042169
-
-
-
Unknown
-
-
-
-
-
Michel van Geel
00055514
0000042171
-
-
-
Unknown
-
-
-
-
-
Michel van Geel
00055516
0000042172
-
-
-
Unknown
-
-
-
-
-
Michel van Geel
00055517
0000042173
-
-
-
Unknown
-
-
-
-
-
Michel van Geel
00055518
0000042174
-
-
-
Unknown
-
-
-
-
-
Michel van Geel
00055519
0000042175
-
-
-
Unknown
-
-
-
-
-
Michel van Geel
00055520
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