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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.
Inheritance
: Values based on OMIM's and HPO's values for inheritance.
AD
: Autosomal dominant
PI
: Autosomal dominant with paternal imprinting
MI
: Autosomal dominant with maternal imprinting
AR
: Autosomal recessive
Di
: Digenic
DD
: Digenic dominant
DR
: Digenic recessive
IC
: Isolated Cases (Sporadic)
Mi
: Mitochondrial
Mu
: Multifactorial
SMo
: Somatic mosaicism
SMu
: Somatic mutation
OG
: Oligogenic (3 genes)
PG
: Polygenic (>3 genes)
XL
: X-linked
XLD
: X-linked dominant
XLR
: X-linked recessive
YL
: Y-linked
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Operator
Column type
Example
Matches
Text
Arg
all entries containing 'Arg'
space
Text
Arg Ser
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|
Text
Arg|Ser
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!
Text
!fs
all entries not containing 'fs'
^
Text
^p.(Arg
all entries beginning with 'p.(Arg'
$
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Ser)$
all entries ending with 'Ser)'
=""
Text
=""
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=""
Text
="p.0"
all entries exactly matching 'p.0'
!=""
Text
!=""
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!=""
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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53 entries on 1 page. Showing entries 1 - 53.
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How to query
ID
Abbreviation
Name
OMIM ID
Inheritance
Individuals
Phenotypes
Associated with genes
Associated tissues
Disease features
00943
-
De Sanctis-Cacchione syndrome
278800
AR
0
0
ERCC6
-
-
01586
-
addiction, tobacco, susceptibility to
188890
-
13
0
CHRNA4, CYP2A6, GABBR2, SLC6A3
-
-
01870
-
Iminoglycinuria, digenic
242600
AR;DR
0
0
SLC36A2, SLC6A19, SLC6A20
-
-
02195
-
chondrodysplasia, with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia
300863
XLD
0
0
HDAC6
-
-
02521
-
intolerance, orthostatic
604715
-
0
0
SLC6A2
-
-
02711
-
anxiety
607834
-
0
0
SLC6A4
-
-
03422
ARMD5
macular degeneration, age-related, type 5 (ARMD-5)
613761
-
0
0
ERCC6
-
-
03390
BBIS
Beaulieu-Boycott-Innes syndrome (BBIS)
613680
AR
7
7
THOC6
-
autosomal recessive
04059
BMFS2
bone marrow failure syndrome, type 2 (BMFS-2)
615715
AR
0
0
ERCC6L2
-
-
02147
BMIQ11
body mass index quantitative trait locus 11 (BMIQ-11)
300306
-
0
0
SLC6A14
-
-
03141
C6D
complement component 6 deficiency (C6D)
612446
-
0
0
C6
-
-
00639
cancer, lung
cancer, lung (adenocarcinoma)
211980
-
52
40
BRAF, CASP8, CYP2A6, DLEC1, EGFR, ERBB2, ERCC6, FASLG, IRF1, KRAS, MAP3K8, PARK2, PIK3CA, PPP2R1B, RASSF1, SFTPA2, SLC22A18
-
-
03185
CCDS
deficiency, cerebral creatine, syndrome (CCDS)
-
-
0
0
GAMT, GATM, SLC6A8
-
-
01085
CCDS1;CDSX
deficiency, cerebral creatine, syndrome, type 1 (CCDS1, creatine deficiency syndrome, X-linked (CDSX))
300352
XLR
238
237
SLC6A8
-
X-linked recessive
01142
CILD19
dyskinesia, ciliary, primary, 19 (CILD-19)
614935
AR
0
0
LRRC6
-
-
03973
CILD27
dyskinesia, ciliary, primary, 27 (CILD-27)
615504
AR
0
0
CCDC65
-
-
00942
COFS1
cerebrooculofacioskeletal syndrome, type 1 (COFS-1
214150
AR
0
0
ERCC6
-
-
05595
CS
Cockayne syndrome (CS)
-
-
9
9
ERCC6, ERCC8
-
-
00941
CSB
Cockayne syndrome, type B (CSB)
133540
AR
0
0
ERCC6
-
-
01772
EV
epidermodysplasia verruciformis, susceptibiity to (EV)
-
-
26
25
CIB1, TMC6, TMC8
-
-
05653
EV1
epidermodysplasia verruciformis, susceptibiity to 1 (EV-1)
226400
AR
0
0
TMC6
-
-
05408
FAME
epilepsy, myoclonic, familial adult (FAME)
-
-
69
68
CTNND2, MARCH6, RAPGEF2, SAMD12, STARD7, TNRC6A, YEATS2
-
autosomal dominant; myoclonic tremor (cortical tremor), infrequent epilepsy with benign clinical course
05589
FAME6;FMCTE6
epilepsy, myoclonic, familial adult, type 6 (FAME6, FMCTE6)
618074
AD
0
0
TNRC6A
-
-
02476
FSGS2
glomerulosclerosis, segmental, focal, type 2 (FSGS-2)
603965
AD
0
0
TRPC6
-
-
03657
GACI2
calcification, arterial, generalized, of infancy, type 2 (GACI-2)
614473
AR
0
0
ABCC6
-
-
05841
glycine encephalopathy
encephalopathy, glycine, with normal serum glycine
617301
AR
2
1
SLC6A9
-
-
03689
HKPX3
hyperekplexia, type 3 (HKPX-3)
614618
AD;AR
0
0
SLC6A5
-
-
01836
HND
Hartnup disorder (HND)
234500
AR
0
0
SLC6A19
-
-
06567
HNFJ4
Hyperuricemic nephropathy, familial juvenile, 4
617056
AD
0
0
SEC61A1
-
-
01350
hyperglycinuria
hyperglycinuria
138500
AD
0
0
SLC36A2, SLC6A19, SLC6A20
-
-
00139
ID
intellectual disability (ID)
-
-
2195
1894
AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 540 more
-
-
04665
MAE
epilepsy, myoclonic-atonic (MAE)
616421
AD
1
1
SLC6A1
-
-
00718
MGORS3
Meier-Gorlin syndrome, type 3 (MGORS-3)
613803
AR
1
0
ORC6
-
-
00728
MGORS5
Meier-Gorlin syndrome, type 5 (MGORS-5)
613805
AR
0
0
CDC6
-
-
04666
MRT48
mental retardation, autosomal recessive, type 48 (MRT-48)
616269
AR
0
0
SLC6A17
-
-
06240
NEDMEBA
Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
617862
AR
0
0
TRAPPC6B
-
-
01583
NMTC1
cancer, thyroid, nonmedullary, type 1 (NMTC-1, papillary thyroid carcinoma)
188550
AD
0
0
CCDC6, GOLGA5, NCOA4, NKX2-1, PCM1, PRKAR1A, TRIM24, TRIM33
-
-
00292
OCD
obsessive compulsive disorder (OCD)
164230
AD
3
1
BDNF, HTR2A, SLC6A4
-
-
01981
OMOD
omodysplasia (OMOD)
-
-
2
2
FZD2, GPC6
-
-
05844
OMOD1
omodysplasia, type 1 (OMOD1)
258315
AR
0
0
GPC6
-
-
03989
PARK19
Parkinson disease, type 19, juvenile-onset (PARK-19)
615528
AR
0
0
DNAJC6
-
-
01512
PCLD
liver disease, polycystic (PCLD)
-
-
2
1
PRKCSH, SEC63
-
-
05343
PCLD2
liver disease, polycystic, type 2 (PCLD-2)
617004
-
0
0
SEC63
-
-
03268
PKDYS1;DTDS
Parkinsonism-dystonia, infantile (PKDYS, dopamine transporter deficiency syndrome (DTDS))
613135
AR
12
12
SLC6A3
-
-
06075
POF11
ovarian failure, premature, type 11
616946
AD
0
0
ERCC6
-
-
03996
PVNH6
heterotopia, nodular, periventricular, type 6 (PVNH-6)
615544
AD
0
0
C6orf70
-
-
02035
PXE
pseudoxanthoma elasticum (PXE)
264800
AR
421
399
ABCC6, XYLT1, XYLT2
-
-
01533
PXEFF
pseudoxanthoma elasticum, forme fruste (PXEFF)
177850
AD
0
0
ABCC6
-
-
06482
SEMDJL3
Spondyloepimetaphyseal dysplasia with joint laxity, type 3
618395
AR
0
0
EXOC6B
-
-
05562
SPGF
spermatogenic failure (SPGF)
-
-
83
83
AURKC, C14orf39, C15orf43, CCDC62, CFAP58, DNAH1, DPY19L2, FANCM, FBXO43, GGN, IFT74, MEIOB, PDHA2, PLCZ1, PNLDC1, RNF212, RPL10L, SOHLH1, STAG3, TDRD9, ZPBP
-
-
06912
SPGF67
spermatogenic failure, type 67
619803
AR
0
0
CCDC62
-
-
06701
THAMY
?Thrombocytopenia, anemia, and myelofibrosis
617441
AR
0
0
C6orf25
-
-
02306
UVSS
UV-sensitive syndrome (UVSS)
600630
AR
1
1
ERCC6
-
-
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