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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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Column type
Example
Matches
Text
Arg
all entries containing 'Arg'
space
Text
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Text
Arg|Ser
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!
Text
!fs
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^
Text
^p.(Arg
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$
Text
Ser)$
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=""
Text
=""
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=""
Text
="p.0"
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!=""
Text
!=""
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!=""
Text
!="p.0"
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combination
Text
*|Ter !fs
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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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97 entries on 1 page. Showing entries 1 - 97.
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How to query
ID
Abbreviation
Name
OMIM ID
Inheritance
Individuals
Phenotypes
Associated with genes
Associated tissues
Disease features
02044
-
Pyruvate carboxylase deficiency
266150
AR
3
3
PC
-
-
02571
-
acidemia, propionic
606054
AR
218
218
PCCA, PCCB
-
-
03519
-
Hepatic lipase deficiency
614025
AR
-
-
LIPC
-
-
05233
-
lipodystrophy, congenital, and fatty liver disease
-
-
2
2
PCYT1A
-
-
04132
ATLD2
ataxia-telangiectasia-like disorder 2
615919
AR
-
-
PCNA
-
-
05062
BBS15
Bardet-Biedl syndrome?, type 15 (BBS-15)
615992
AR
-
-
WDPCP
-
-
03130
BMIQ12
body mass index quantitative trait locus 12 (BMIQ-12)
612362
-
-
-
PCSK1
-
-
03381
cancer, gastric
cancer, gastric (Neoplasm of stomach)
613659
-
102
88
APC, CASP10, ERBB2, FGFR2, IRF1, KLF6, MUTYH, PIK3CA
-
-
01221
cancer, liver
cancer, hepatocellular (HCC)
114550
-
4
4
APC, AXIN1, CASP8, CTNNB1, IGF2R, MET, PDGFRL, PIK3CA, TP53
liver
-
00424
cancer, ovarian
cancer, ovarian
167000
-
233
165
AKT1, CDH1, CTNNB1, OPCML, PARK2, PIK3CA
-
-
06446
CDCBM10
Cortical dysplasia, complex, with other brain malformations 10
618677
AR
-
-
APC2
-
-
05063
CHDTHP
heart defects, congential?, hamartomas of tongue, and polysyndactyly (CHDTHP)
217085
AR
-
-
WDPCP
-
-
05553
CMD2C
cardiomyopathy, dialted, type 2C (CMD-2C)
618189
AR
-
-
PPCS
-
autosomal recessive
01226
CMH4
cardiomyopathy, hypertrophic, familial, type 4 (CMH-4)
115197
AD;AR
1
1
MYBPC3
-
-
00091
CRC
cancer, colorectal, susceptibility to (CRC)
114500
AD;SMu
3065
1838
AKT1, APC, AURKA, AXIN2, BAX, BUB1B, CCND1, CTNNB1, DCC, DLC1, EP300, FGFR3, FLCN, MCC, MLH3, NRAS, NTHL1, ODC1, PDGFRL, PIK3CA, 7 more
-
-
03609
DA1B
arthrogryposis, distal, type 1B (DA-1B)
614335
AD
-
-
MYBPC1
-
-
00313
DESMD
desmoid disease, hereditary
135290
AD
-
-
APC
-
-
05458
DFN
deafness, nonsyndromic (DFN)
-
-
49
44
CDC14A, CDH23, CEACAM16, FAM65B, MYO15A, MYO6, MYO7A, OTOF, OTOG, PCDH15, PDZD7, TECTA, TMC1, USH1C
-
-
05400
DFNB
deafness, autosomal recessive (DFNB)
-
-
955
951
CDH23, CIB2, FAM65B, GRXCR1, HGF, MYO15A, MYO7A, OTOF, OTOG, PCDH15, RDX, S1PR2, SERPINB6, STRC, TMC1, USH1C
-
autosomal recessive
02398
DFNB15
deafness, autosomal recessive, type 15 (DFNB-15)
601869
AR
4
4
GIPC3
-
-
02858
DFNB23
deafness, autosomal recessive, type 23 (DFNB-23)
609533
AR
1
1
PCDH15
-
-
03286
DIAR5
diarrhea, type 5, with tufting enteropathy, congenital (DIAR-5)
613217
AR
2
2
EPCAM
-
autosomal recessive
06650
DMJDS1
dysplasia, diencephalic-mesencephalic junction, syndrome 1
251280
AR
-
-
PCDH12
-
-
04503
DYT2
dystonia, type 2, torsion, autosomal recessive (DYT-2)
224500
AR
1
2
HPCA
-
-
02142
EIEE9
encephalopathy, epileptic, early infantile, type 9 (EIEE-9)
300088
XL
42
8
PCDH19
-
early infantile epileptic encephalopathy, also known as epilepsy and mental retardation restricted to females (EFMR)
00312
FAP1
adenomatous polyposis, familial, type 1 (FAP-1, Gardner syndrome)
175100
AD
4377
4377
APC
-
-
00164
FHCL3
hypercholesterolemia, familial, type 3
603776
AD
-
-
PCSK9
-
-
02476
FSGS2
glomerulosclerosis, segmental, focal, type 2 (FSGS-2)
603965
AD
-
-
TRPC6
-
-
04498
GE
blood group, Gerbich (GE)
616089
-
-
-
GYPC
-
-
01819
GSD1A
storage disease, glycogen, type 1A (GSD-1A)
232200
AR
39
4
G6PC
-
-
03192
HDLCQ12
HDL cholesterol level, quantitative trait locus 12 (HDLCQ-12)
612797
-
-
-
LIPC
-
-
05464
HNPCC (Lynch)
cancer, colorectal, nonpolyposis, hereditary (Lynch syndrome)
-
-
1602
629
EPCAM, MLH1, MLH3, MSH2, MSH6, PMS2, TGFBR2
-
-
00520
HNPCC8
cancer, colorectal, nonpolyposis, hereditary, type 8 (HNPCC-8)
613244
-
70
70
EPCAM
-
autosomal dominant
05683
HPA
hyperphenylalaninemia (HPA)
-
AD
37
37
GCH1, PCBD1, PTS, QDPR
-
-
02028
HPABH4D
hyperphenylalaninemia, BH4-deficient, type D (HPABH4D)
264070
AR
-
-
PCBD1
-
-
02548
HYPT1
hypotrichosis, type 1 (HYPT-1)
605389
AD
-
-
APCDD1
-
-
00139
ID
intellectual disability (ID)
-
-
2695
2377
AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 553 more
-
-
06040
IGHD5
?Growth hormone deficiency, isolated, type V
618160
AR
-
-
RNPC3
-
-
07160
IMD113
immunodeficiency, type 113, with autoimmunity and autoinflammation
620565
AR
-
-
ARPC5
-
-
01536
IPF
fibrosis, pulmonary, idiopathic (IPF)
178500
AD
51
49
MUC5B, SFTPA1, SFTPA2, SFTPC
-
-
05846
KPTS
Keipert syndrome (KPTS)
301026
XLR
-
-
GPC4
-
-
03787
LCCS4
contracture syndrome, lethal, congenital, type 4 (LCCS-4)
614915
AR
1
1
MYBPC1
-
-
06756
LDLCQ7
[Ezetimibe, nonresponse to]
617966
-
-
-
NPC1L1
-
-
05126
LGMD
dystrophy, muscular, limb-girdle (LGMD)
-
-
7500
3655
POPDC3, TCAP, TRAPPC11
-
-
00141
LGMD2
dystrophy, muscular, limb-girdle, autosomal recessive, type 2 (LGMD-2)
-
-
313
311
CAPN3, DYSF, FKRP, FKTN, SGCA, SGCB, SGCD, SGCG, TRAPPC11
-
-
03907
LGMDR18;LGMD2S
dystrophy, muscular, limb-girdle, autosomal recessive, type 18 (LGMD2S)
615356
AR
5
2
TRAPPC11
-
-
03924
LVNC10;CMD1MM
ventricular noncompaction, left, type 10 (LVNC-10, cardiomyopathy, dilated, type 1MM (CMD-1MM))
615396
AD
1
1
MYBPC3
-
-
00309
MLRS
malaria, susceptibility to
611162
-
3
1
CD36, CISH, CR1, DARC, FCGR2A, FCGR2B, G6PD, GYPA, GYPB, GYPC, HBB, ICAM1, NOS2, SLC4A1, TIRAP, TNF
-
-
06753
MMDS6
mitochondrial dysfunctions, multiple, syndrome, type 6
617954
AR
-
-
PMPCB
-
-
05525
MOPD
dwarfism, primordial, osteodysplastic, microcephalic (MOPD)
-
-
64
64
PCNT, RNU4ATAC
-
-
00275
MOPD2
dwarfism, primordial, osteodysplastic, microcephalic type II
210720
AR
10
9
PCNT
-
autosomal recessive
03717
MPYCD
Mitochondrial pyruvate carrier deficiency
614741
AR
-
-
MPC1
-
-
00801
MRT13
mental retardation, autosomal recessive, type 13
613192
AR
3
3
TRAPPC9
-
hypoplastic supraorbital ridges; global developmental delay (HP:0001263); intellectual disability (HP:0001249); seizure (HP:0001250); hypotonia (HP:0001252); no short stature (-HP:0004322); obesity (HP:0001513); digital abnormalities (HP_0011297); tapering fingers, stereotypies, MRI changes (cerebral and cerebellar atrophy, thin corpus callosum, and multifocal supratentorial white matter abnormalities)
06201
MYOTREM
Myopathy, congenital, with tremor
618524
AD
-
-
MYBPC1
-
-
05611
NDD
neurodevelopmental disorder (NDD)
-
-
3539
3354
ACBD6, ADARB1, AP1G1, ARFGEF1, ATP9A, CAMSAP1, CAPRIN1, CASP2, CHASERR, CPSF3L, DDB1, DENND5B, DHX30, DHX9, DOHH, DOT1L, EEFSEC, EIF2C1, EIF2C2, EIF4A2, 71 more
-
-
05819
NEDESBA
neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy (NEDESBA)
618741
AR
-
-
TRAPPC4
-
-
07005
NEDGS
neurodevelopmental disorder with poor growth and skeletal anomalies
619880
AR
1
-
PCDHGC4
-
-
06240
NEDMEBA
Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
617862
AR
-
-
TRAPPC6B
-
-
07164
NEDRSO
neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction
620515
AR
-
-
SNAPC4
-
-
00151
NIDDM
diabetes mellitus, type II (NIDDM)
125853
AD
8
7
ABCC8, AKT2, CDKAL1, ENPP1, GCGR, GCK, GPD2, HMGA1, HNF1A, HNF1B, HNF4A, IGF2BP2, IRS1, IRS2, KCNJ11, LIPC, MAPK8IP1, MTNR1B, NEUROD1, PAX4, 8 more
-
-
01583
NMTC1
cancer, thyroid, nonmedullary, type 1 (NMTC-1, papillary thyroid carcinoma)
188550
AD
1
-
CCDC6, GOLGA5, NCOA4, NKX2-1, PCM1, PRKAR1A, TRIM24, TRIM33
-
-
05812
NP
Niemann-Pick disease (NP)
-
-
257
245
NPC1, SMPD1
-
-
01975
NPC1
Niemann-Pick disease, type C1
257220
AR
9
8
NPC1
-
-
02680
NPC2
Niemann-Pick disease, type C2
607625
AR
1
1
NPC2
-
-
02325
obesity
obesity with impaired prohormone processing (proprotein convertase 1/3 deficiency)
600955
AR
1
1
PCSK1
-
-
01981
OMOD
omodysplasia (OMOD)
-
-
2
2
FZD2, GPC6
-
-
05844
OMOD1
omodysplasia, type 1 (OMOD1)
258315
AR
-
-
GPC6
-
-
05741
OPDM
myopathy, oculopharyngodistal (OPDM)
-
-
60
43
GIPC1, LRP12, NOTCH2NLC, RILPL1
-
-
05831
OPDM2
myopathy, oculopharyngodistal, type 2 (OPDM2)
618940
AD
-
-
GIPC1
-
-
04608
PCH3
hypoplasia, pontocerebellar?, type 3 (PCH-3)
608027
AR
-
-
PCLO
-
-
02012
PCKDC
deficiency, phosphoenolpyruvate carboxykinase, cytosolic (PCKDC)
261680
AR
5
5
PCK1
-
-
02010
PCKDM
PEPCK deficiency, Mi
261650
AR
-
-
PCK2
-
-
05585
PEBAS
encephalopathy, progressive, early-onset, with brain atrophy and spasticity (PEBAS)
617669
AR
-
-
TRAPPC12
-
autosomal recessive
06314
PEERB
Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis
618331
AR
-
-
TRAPPC2L
-
-
06746
PLTEID
Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
617718
AR
-
-
ARPC1B
-
-
00314
polyposis
polyposis
-
-
172
164
APC
-
-
06489
RTS1
Rothmund-Thomson syndrome, type 1
618625
AR
-
-
ANAPC1
-
-
00054
RTS2
Rothmund-Thomson syndrome, type 2,
268400
AR
35
40
ANAPC1, RECQL4
-
-
05043
SCA41
ataxia, spinocerebellar, type 41 (SCA-41)
616410
AD
-
-
TRPC3
-
-
06805
SCAR2
Spinocerebellar ataxia, autosomal recessive 2
213200
AR
-
-
PMPCA
-
-
00726
SCN4
neutropenia, severe congenital, type 4, autosomal recessive (SCN-4)
612541
AR
1
-
G6PC3
-
-
02266
SEDT
Spondyloepiphyseal dysplasia tarda
313400
XLR
-
-
TRAPPC2
-
-
05262
SGBS
Simpson-Golabi-Behmel syndrome (SGBS)
-
-
59
59
GPC3
-
-
00773
SGBS1
Simpson-Golabi-Behmel syndrome, type 1 (SGBS1)
312870
XLR
1
1
GPC3
-
-
03110
SHEP10
pigmentation, skin/hair/eye, variation in, type 10 (SHEP-10)
612267
-
-
-
TPCN2
-
-
02804
SMDCRD
dysplasia, spondylometaphyseal, with cone-rod dystrophy (SMDCRD)
608940
AR
14
14
PCYT1A
-
-
02991
SMDP2
surfactant metabolism dysfunction, pulmonary, type 2 (SMDP-2)
610913
AD
13
13
SFTPC
-
-
05245
SOTOS
Sotos syndrome (SOTOS)
-
-
160
65
APC2, NFIX, NSD1
-
neurological disorder characterized by overgrowth (prenatal stage through childhood), advanced bone age, unusual face with large skull, acromegalic features and pointed chin, occasional brain anomalies, seizures, mental retardation
05244
SOTOS3
Sotos syndrome, type 3 (SOTOS-3)
617169
AR
-
-
APC2
-
-
06387
SPG82
Spastic paraplegia 82, autosomal recessive
618770
AR
-
-
PCYT2
-
-
01162
SPGF6
spermatogenic failure, type 6 (SPGF-6, globozoospermia)
102530
AR
1
1
GOPC, SPATA16
-
-
05983
TPFS
Turnpenny-Fry syndrome (TPFS)
618371
AD
-
-
PCGF2
-
-
05415
USH
Usher syndrome (USH)
-
-
457
455
ARSG, CDH23, CIB2, CLRN1, GPR98, MYO7A, PCDH15, USH1C, USH1G, USH2A
-
-
02115
USH1
Usher syndrome, type I (USH-1)
-
-
644
645
CDH23, MYO7A, PCDH15, USH1C, USH1G
-
-
02413
USH1F
Usher syndrome, type 1F (USH-1F)
602083
AR
3
3
PCDH15
-
-
00774
WT1
Wilms tumor, type 1, somatic (WT-1, nephroblastoma)
194070
AD;SMu
7
7
BRCA2, GPC3, H19, WT1
-
-
02135
XPC
xeroderma pigmentosum, complementation group C (XPC)
278720
AR
-
-
XPC
-
-
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