Global Variome shared LOVD
ELOF1 (elongation factor 1 homolog (S. cerevisiae))
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Phenotypes for disease #00495 (HEMA (hemophilia A (HEMA)), OMIM:306700)
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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.
Diagnosis/Initial
: initial diagnosis, before molecular testing
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
Diagnosis/Definite
: phenotype individual after molecular testing (OMIM abbreviation)
Disease/Sub-type
: phenotype disease sub-type
All options:
type I
type II
type 2
type 2A
type 2B
type 2M
type 2N
type 3
? = not specified
Phenotype details
: additional information on the phenotype of the individual, preferably use HPO terms only (http://www.human-phenotype-ontology.org/)
FVIII:Ag (%)
: FVIII:Ag (%)
FVIII:C (%; presumed 1-stage)
: FVIII:C (%; presumed 1-stage)
FVIII:C (%; 2-stage/chromogenic)
: FVIII:C (%; 2-stage/chromogenic)
Assay ratio
: Assay ratio (1-stage:2-stage)
Auto-antibodies
: Auto-antibodies
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all entries not containing 'fs'
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all entries beginning with 'p.(Arg'
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all entries ending with 'Ser)'
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all entries exactly matching 'p.0'
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combination
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Date
2020
all entries matching the year 2020
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Date
2020-03|2020-04
all entries matching March or April, 2020
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Date
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all entries not matching March, 2020
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Date
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all entries before the year 2020
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Date
<=2020-06
all entries in or before June, 2020
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Date
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all entries after June, 2020
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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
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Numeric
<=23
all entries lower than, or equal to, 23
>
Numeric
>23
all entries higher than 23
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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
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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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8376 entries on 84 pages. Showing entries 1 - 100.
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Phenotype ID
Diagnosis/Initial
Inheritance
Diagnosis/Definite
Disease/Sub-type
Phenotype details
FVIII:Ag (%)
FVIII:C (%; presumed 1-stage)
FVIII:C (%; 2-stage/chromogenic)
Assay ratio
Auto-antibodies
Owner
Individual ID
0000029147
-
Unknown
-
type II
disease severity mild
10
6
-
-
No
Geoffrey Kemball-Cook
00038704
0000034467
-
Unknown
-
-
disease severity moderate
-
3
-
-
No
Geoffrey Kemball-Cook
00047105
0000034468
-
Unknown
-
-
disease severity mild
-
22
-
-
?
Geoffrey Kemball-Cook
00047106
0000034469
-
Unknown
-
-
disease severity mild
-
29
-
-
?
Geoffrey Kemball-Cook
00047107
0000034470
-
Unknown
-
-
disease severity mild
-
28
-
-
?
Geoffrey Kemball-Cook
00047108
0000034471
-
Unknown
-
-
disease severity mild
-
21
-
-
?
Geoffrey Kemball-Cook
00047109
0000034472
-
Unknown
-
-
disease severity mild
-
23-40
-
-
No
Geoffrey Kemball-Cook
00047110
0000034473
-
Unknown
-
-
disease severity mild
-
30
-
-
?
Geoffrey Kemball-Cook
00047111
0000034474
-
Unknown
-
-
disease severity mild
-
30-40
-
-
?
Geoffrey Kemball-Cook
00047112
0000034475
-
Unknown
-
-
disease severity mild
-
30-40
-
-
?
Geoffrey Kemball-Cook
00047113
0000034476
-
Unknown
-
-
disease severity mild
-
31
-
-
No
Geoffrey Kemball-Cook
00047114
0000034477
-
Unknown
-
-
disease severity mild
-
30
-
-
?
Geoffrey Kemball-Cook
00047115
0000034478
-
Unknown
-
-
disease severity mild
-
31
-
-
No
Geoffrey Kemball-Cook
00047116
0000034479
-
Unknown
-
-
disease severity mild
-
50
-
-
No
Geoffrey Kemball-Cook
00047117
0000034480
-
Unknown
-
-
disease severity mild
-
-
-
-
?
Geoffrey Kemball-Cook
00047118
0000034481
-
Unknown
-
-
severe
-
<1
-
-
?
Geoffrey Kemball-Cook
00047119
0000034482
-
Unknown
-
-
disease severity unknown
-
-
-
-
?
Geoffrey Kemball-Cook
00047120
0000034483
-
Unknown
-
-
severe
<0.5
<1
-
-
No
Geoffrey Kemball-Cook
00047121
0000034484
-
Unknown
-
-
severe
-
<1
-
-
?
Geoffrey Kemball-Cook
00047122
0000034485
-
Unknown
-
-
severe
-
<1
-
-
No
Geoffrey Kemball-Cook
00047123
0000034486
-
Unknown
-
-
severe
-
<1
-
-
No
Geoffrey Kemball-Cook
00047124
0000034487
-
Unknown
-
-
disease severity moderate
-
3
-
-
No
Geoffrey Kemball-Cook
00047125
0000034488
-
Unknown
-
-
severe
-
<1
-
-
?
Geoffrey Kemball-Cook
00047126
0000034489
-
Unknown
-
-
severe
-
<1
-
-
No
Geoffrey Kemball-Cook
00047127
0000034490
-
Unknown
-
-
severe
-
-
-
-
?
Geoffrey Kemball-Cook
00047128
0000034491
-
Unknown
-
-
severe
-
<1
-
-
?
Geoffrey Kemball-Cook
00047129
0000034492
-
Unknown
-
-
severe
-
-
-
-
?
Geoffrey Kemball-Cook
00047130
0000034493
-
Unknown
-
-
severe
-
2
-
-
No
Geoffrey Kemball-Cook
00047131
0000034494
-
Unknown
-
-
severe
-
-
-
-
?
Geoffrey Kemball-Cook
00047132
0000034495
-
Unknown
-
-
severe
<1
<2
-
-
No
Geoffrey Kemball-Cook
00047133
0000034496
-
Unknown
-
-
severe
-
<1
-
-
No
Geoffrey Kemball-Cook
00047134
0000034497
-
Unknown
-
-
severe
<1
<1
-
-
No
Geoffrey Kemball-Cook
00047135
0000034498
-
Unknown
-
-
severe
-
<1
-
-
No
Geoffrey Kemball-Cook
00047136
0000034499
-
Unknown
-
-
severe
-
-
-
-
Yes
Geoffrey Kemball-Cook
00047137
0000034500
-
Unknown
-
-
severe
-
<1
-
-
No
Geoffrey Kemball-Cook
00047138
0000034501
-
Unknown
-
-
severe
-
<1
-
-
No
Geoffrey Kemball-Cook
00047139
0000034502
-
Unknown
-
-
severe
-
<1
-
-
No
Geoffrey Kemball-Cook
00047140
0000034503
-
Unknown
-
-
disease severity mild
-
5
-
-
No
Geoffrey Kemball-Cook
00047141
0000034504
-
Unknown
-
type I
disease severity mild
4
6
-
-
No
Geoffrey Kemball-Cook
00047142
0000034505
-
Unknown
-
-
severe
-
1
-
-
No
Geoffrey Kemball-Cook
00047143
0000034506
-
Unknown
-
-
disease severity mild
-
13
-
-
No
Geoffrey Kemball-Cook
00047144
0000034507
-
Unknown
-
-
disease severity mild
-
11
-
-
No
Geoffrey Kemball-Cook
00047145
0000034508
-
Unknown
-
-
disease severity mild
-
-
-
-
No
Geoffrey Kemball-Cook
00047146
0000034509
-
Unknown
-
-
disease severity mild
-
16
-
-
?
Geoffrey Kemball-Cook
00047147
0000034510
-
Unknown
-
-
disease severity unknown
-
-
-
-
?
Geoffrey Kemball-Cook
00047148
0000034511
-
Unknown
-
-
disease severity unknown
-
-
-
-
?
Geoffrey Kemball-Cook
00047149
0000034512
-
Unknown
-
-
disease severity mild
-
10
-
-
?
Geoffrey Kemball-Cook
00047150
0000034513
-
Unknown
-
-
disease severity moderate
-
4.5
-
-
No
Geoffrey Kemball-Cook
00047151
0000034514
-
Unknown
-
-
disease severity moderate
-
3
-
-
No
Geoffrey Kemball-Cook
00047152
0000034515
-
Unknown
-
-
disease severity mild
-
10
-
-
No
Geoffrey Kemball-Cook
00047153
0000034516
-
Unknown
-
-
disease severity mild
-
6
-
-
?
Geoffrey Kemball-Cook
00047154
0000034517
-
Unknown
-
-
disease severity mild
-
7
-
-
?
Geoffrey Kemball-Cook
00047155
0000034518
-
Unknown
-
-
disease severity mild
-
10
-
-
?
Geoffrey Kemball-Cook
00047156
0000034519
-
Unknown
-
-
disease severity mild
-
11
-
-
?
Geoffrey Kemball-Cook
00047157
0000034520
-
Unknown
-
-
disease severity unknown
-
-
-
-
No
Geoffrey Kemball-Cook
00047158
0000034521
-
Unknown
-
-
disease severity mild
-
-
-
-
No
Geoffrey Kemball-Cook
00047159
0000034522
-
Unknown
-
-
disease severity moderate
-
10
-
-
No
Geoffrey Kemball-Cook
00047160
0000034523
-
Unknown
-
-
disease severity mild
-
-
-
-
?
Geoffrey Kemball-Cook
00047161
0000034524
-
Unknown
-
-
severe
-
<1
-
-
No
Geoffrey Kemball-Cook
00047162
0000034525
-
Unknown
-
-
disease severity mild
-
6
-
-
No
Geoffrey Kemball-Cook
00047163
0000034526
-
Unknown
-
-
severe
-
<1
-
-
No
Geoffrey Kemball-Cook
00047164
0000034527
-
Unknown
-
-
severe
-
<1
-
-
No
Geoffrey Kemball-Cook
00047165
0000034528
-
Unknown
-
-
severe
-
<1
-
-
No
Geoffrey Kemball-Cook
00047166
0000034529
-
Unknown
-
-
severe
-
<1
-
-
No
Geoffrey Kemball-Cook
00047167
0000034530
-
Unknown
-
-
disease severity moderate
-
-
-
-
?
Geoffrey Kemball-Cook
00047168
0000034531
-
Unknown
-
-
disease severity mild
-
-
-
-
No
Geoffrey Kemball-Cook
00047169
0000034532
-
Unknown
-
-
disease severity moderate
-
5
-
-
No
Geoffrey Kemball-Cook
00047170
0000034533
-
Unknown
-
-
severe
-
<1
-
-
?
Geoffrey Kemball-Cook
00047171
0000034534
-
Unknown
-
-
severe
-
<1
-
-
No
Geoffrey Kemball-Cook
00047172
0000034535
-
Unknown
-
-
severe
-
-
-
-
No
Geoffrey Kemball-Cook
00047173
0000034536
-
Unknown
-
-
severe
-
<1
-
-
?
Geoffrey Kemball-Cook
00047174
0000034537
-
Unknown
-
-
disease severity mild
-
12
-
-
?
Geoffrey Kemball-Cook
00047175
0000034538
-
Unknown
-
-
severe
-
<1
-
-
Yes
Geoffrey Kemball-Cook
00047176
0000034539
-
Unknown
-
-
severe
-
<1
-
-
Yes
Geoffrey Kemball-Cook
00047177
0000034540
-
Unknown
-
-
severe
-
-
-
-
Yes
Geoffrey Kemball-Cook
00047178
0000034541
-
Unknown
-
-
severe
-
-
-
-
No
Geoffrey Kemball-Cook
00047179
0000034542
-
Unknown
-
-
disease severity mild
-
22
-
-
No
Geoffrey Kemball-Cook
00047180
0000034543
-
Unknown
-
type I
disease severity mild
12
26
-
-
No
Geoffrey Kemball-Cook
00047181
0000034544
-
Unknown
-
-
severe
-
<1
-
-
No
Geoffrey Kemball-Cook
00047182
0000034545
-
Unknown
-
-
severe
-
<1
-
-
No
Geoffrey Kemball-Cook
00047183
0000034546
-
Unknown
-
-
severe
-
-
-
-
?
Geoffrey Kemball-Cook
00047184
0000034547
-
Unknown
-
-
disease severity moderate
-
3
-
-
No
Geoffrey Kemball-Cook
00047185
0000034548
-
Unknown
-
-
disease severity moderate
-
<1
-
-
No
Geoffrey Kemball-Cook
00047186
0000034549
-
Unknown
-
-
disease severity moderate
-
2
-
-
?
Geoffrey Kemball-Cook
00047187
0000034550
-
Unknown
-
-
severe
-
-
-
-
No
Geoffrey Kemball-Cook
00047188
0000034551
-
Unknown
-
type I
disease severity mild
18
21
-
-
No
Geoffrey Kemball-Cook
00047189
0000034552
-
Unknown
-
-
severe
-
<1
-
-
No
Geoffrey Kemball-Cook
00047190
0000034553
-
Unknown
-
-
severe
-
<1
-
-
No
Geoffrey Kemball-Cook
00047191
0000034554
-
Unknown
-
-
severe
-
-
-
-
No
Geoffrey Kemball-Cook
00047192
0000034555
-
Unknown
-
-
severe
-
-
-
-
No
Geoffrey Kemball-Cook
00047193
0000034556
-
Unknown
-
-
severe
-
2
-
-
No
Geoffrey Kemball-Cook
00047194
0000034557
-
Unknown
-
-
severe
-
<1
-
-
No
Geoffrey Kemball-Cook
00047195
0000034558
-
Unknown
-
-
disease severity moderate
-
5
-
-
No
Geoffrey Kemball-Cook
00047196
0000034559
-
Unknown
-
-
severe
-
<1
-
-
?
Geoffrey Kemball-Cook
00047197
0000034560
-
Unknown
-
-
severe
<1
<1
-
-
Yes
Geoffrey Kemball-Cook
00047198
0000034561
-
Unknown
-
-
severe
-
<1
-
-
No
Geoffrey Kemball-Cook
00047199
0000034562
-
Unknown
-
-
severe
-
<1
-
-
?
Geoffrey Kemball-Cook
00047200
0000034563
-
Unknown
-
type I
disease severity mild
21
20
-
-
No
Geoffrey Kemball-Cook
00047201
0000034564
-
Unknown
-
-
severe
-
<1
-
-
No
Geoffrey Kemball-Cook
00047202
0000034565
-
Unknown
-
-
severe
-
<1
-
-
No
Geoffrey Kemball-Cook
00047203
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