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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
How to query this table
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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'
$
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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57 entries on 1 page. Showing entries 1 - 57.
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How to query
ID
Abbreviation
Name
OMIM ID
Inheritance
Individuals
Phenotypes
Associated with genes
Associated tissues
Disease features
00566
-
Wolcott-Rallison syndrome
226980
-
-
-
EIF2AK3
-
-
00614
-
mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations
613443
-
-
-
MEF2C
-
-
00754
-
Van den Ende-Gupta syndrome
600920
-
-
-
SCARF2
-
-
00840
-
mental retardation, X-linked, FRAXE type
309548
-
-
-
AFF2
-
-
01221
-
Hepatocellular carcinoma
114550
-
-
-
APC, AXIN1, CASP8, CTNNB1, IGF2R, MET, PDGFRL, PIK3CA, TP53
-
-
01581
-
Thrombophilia
188050
-
-
-
F13A1, F2, HABP2, MTHFR
-
-
01599
-
hypophosphatemic rickets, autosomal dominant
193100
-
-
-
FGF23
-
-
01698
-
ataxia, cerebellar, and hypogonadotropic hypogonadism
212840
-
-
-
RNF216
-
-
02020
-
alpha-2-plasmin inhibitor deficiency
262850
-
-
-
SERPINF2
-
-
02354
-
stroke, ischemic, susceptibility to
601367
-
-
-
ALOX5AP, F2, F5, NOS3, PRKCH
-
-
02470
-
Leukoencephalopathy with vanishing white matter
603896
-
-
-
EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5
-
-
02733
-
heterotopia, periventricular, autosomal recessive
608097
-
-
-
ARFGEF2
-
-
03389
-
Prothrombin deficiency
613679
-
-
-
F2
-
-
03945
-
Specific language impairment 5
615432
-
-
-
TM4SF20
-
-
02750
ADCAD-1
artery, coronary, disease, autosomal dominant, type 1 (ADCAD-1)
608320
-
-
-
MEF2A
-
-
03740
AI2A-4
amelogenesis imperfecta, hypomaturation type, IIA4 (AI2A-4)
614832
-
-
-
C4orf26
-
-
04435
ARCI-5
Ichthyosis, congenital, autosomal recessive, type 5 (ARCI-5)
604777
-
-
-
CYP4F22
-
-
03931
CDCBM-3
dysplasia ,cortical, complex, with other brain malformations, type 3 (CDCBM-3)
615411
-
-
-
KIF2A
-
-
01332
CFEOM-1
fibrosis, extraocular muscles, congenital, type 1
135700
-
-
-
KIF21A
-
-
01832
CGD-2
granulomatous disease, chronic, due to deficiency of NCF-2, type 2
233710
-
-
-
NCF2
-
-
04083
CHTD-4
heart defects, congenital, multiple types, type 4 (CHTD-4)
615779
-
-
-
NR2F2
-
-
03142
CILD-10
dyskinesia, ciliary, primary, 10 (CILD-10)
612518
-
-
-
DNAAF2
-
-
02518
CMT-4B2
Charcot-Marie-Tooth disease, type 4B2 (CMT-4B2)
604563
-
-
-
SBF2
-
-
03652
CMTDIE
Charcot-Marie-Tooth disease, dominant intermediate, type E (CMTDIE)
614455
-
-
-
INF2
-
-
03511
DKCA-3
dyskeratosis congenita, autosomal dominant, type 3 (DKCA-3)
613990
-
-
-
TINF2
-
-
03289
FSGS-5
glomerulosclerosis, segmental, focal, type 5 (FSGS-5)
613237
-
-
-
INF2
-
-
04512
GRDF
growth restriction, severe, with distinctive facies (GRDF)
616489
-
-
-
IGF2
-
-
04472
HFTC
calcinosis, tumoral, hyperphosphatemic, familial (HFTC)
211900
-
-
-
FGF23, GALNT3, KL
-
-
03975
HHT-5)
telangiectasia, hemorrhagic, hereditary, type 5 (HHT-5)
615506
-
-
-
GDF2
-
-
00139
ID
intellectual disability (ID)
-
-
-
-
AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 515 more
-
-
00038
LS
Leigh syndrome (LS)
256000
-
-
-
BCS1L, COX10, COX15, FOXRED1, NDUFA10, NDUFA12, NDUFA2, NDUFA9, NDUFAF2, NDUFAF6, NDUFS3, NDUFS4, NDUFS7, NDUFS8, SDHA, SURF1
-
-
00611
MC1DN
mitochondrial complex I deficiency (MC1DN)
252010
-
-
-
FOXRED1, NDUFA1, NDUFA11, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFV1, NDUFV2, NUBPL
-
-
02490
MC5DN-1
mitochondrial complex V (ATP synthase) deficiency, nuclear, type 1 (MC5DN-1)
604273
-
-
-
ATPAF2
-
-
02638
meningioma
meningioma, familial, susceptibility to
607174
-
-
-
MN1, NF2, PDGFB, PTEN, SMARCE1, SUFU
-
-
04025
MRT-40
mental retardation, autosomal recessive, type 40 (MRT-40)
615599
-
-
-
TAF2
-
-
00040
MTDPS-7
mitochondrial DNA depletion syndrome (hepatocerebral), type 7 (MTDPS-7)
271245
-
-
-
C10orf2
-
-
02636
MYMY-2
moyamoya disease, type 2 (MYMY-2)
607151
-
-
-
RNF213
-
-
01159
NF-2
neurofibromatosis, type 2 (NF-2)
101000
-
-
-
NF2
-
-
00151
NIDDM
diabetes mellitus, noninsulin-dependent (NIDDM)
125853
-
-
-
ABCC8, AKT2, CDKAL1, ENPP1, GCGR, GCK, GPD2, HMGA1, HNF1A, HNF1B, HNF4A, IGF2BP2, IRS1, IRS2, KCNJ11, LIPC, MAPK8IP1, MTNR1B, NEUROD1, PAX4, 8 more
-
-
02695
PARK-11
Parkinson disease, type 11 (PARK-11)
607688
-
-
-
GIGYF2
-
-
00041
PEOA-3
ophthalmoplegia, external, progressive, with mitochondrial DNA deletions, autosomal dominant, type 3 (PEOA-3)
609286
-
-
-
C10orf2
-
-
02382
PGL-2
paragangliomas, type 2 (PGL-2)
601650
-
-
-
SDHAF2
-
-
04386
PRLTS-5
Perrault syndrome, type 5 (PRLTS-5)
616138
-
-
-
C10orf2
-
-
01837
PVOD-2
venoocclusive disease, pulmonary, type 2 (PVOD-2)
234810
-
-
-
EIF2AK4
-
-
02055
Revesz
Revesz syndrome
268130
-
-
-
TINF2
-
-
04061
RHDA-2
hypodysplasia/aplasia, renal, type 2 (RHDA-2)
615721
-
-
-
FGF20
-
-
03626
RPRGL-2
pregnancy loss, recurrent, susceptibility to, type 2 (RPRGL-2)
614390
-
-
-
F2
-
-
03082
RRQTL-1
recombination rate quantitative trait locus 1 (RRQTL-1)
612042
-
-
-
RNF212
-
-
02843
SCA-26
ataxia, spinocerebellar, type 26 (SCA-26)
609306
-
-
-
EEF2
-
-
02457
SEMDJL-2
dysplasia, spondyloepimetaphyseal, with joint laxity (SEMDJL-2)
603546
-
-
-
KIF22
-
-
04181
SMDP-4
surfactant metabolism dysfunction, pulmonary, type 4 (SMDP-4)
300770
-
-
-
CSF2RA
-
-
03614
SMDP-5
surfactant metabolism dysfunction, pulmonary, type 5 (SMDP-5)
614370
-
-
-
CSF2RB
-
-
00436
SWNTS-1
Schwannomatosis, type 1 (SWNTS-1)
162091
-
-
-
LZTR1, NF2, SMARCB1
-
-
01405
TOC
tylosis, with esophageal cancer (TOC, Howel-Evans syndrome)
148500
-
-
-
RHBDF2
-
-
00748
TTD
trichothiodystrophy (TTD)
-
-
-
-
ERCC2, ERCC3, GTF2H5, MPLKIP
-
-
04325
TTD-3
trichothiodystrophy, type 3, photosentitive (TTD-3)
616395
-
-
-
GTF2H5
-
-
02378
WT-5
Wilms tumor, type 5 (WT-5)
601583
-
-
-
POU6F2
-
-
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