KABUK1
MCID: KBK002
MIFTS: 49

Kabuki Syndrome 1 (KABUK1) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Fetal diseases

Aliases & Classifications for Kabuki Syndrome 1

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Aliases & Descriptions for Kabuki Syndrome 1:

Name: Kabuki Syndrome 1 52 70 27 12
Kabuki Syndrome 11 23 48 24 25 54 70 27 39 13
Niikawa-Kuroki Syndrome 11 23 48 24 25 54 70
Kabuki Make-Up Syndrome 23 24 25 54 70
Kms 11 48 25 70
 
Kabuki Make Up Syndrome 11 48
Kabuki Makeup Syndrome 25
Kabuk1 70
Nks 48

Characteristics:

Orphanet epidemiological data:

54
kabuki syndrome:
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal; Age of death: any age

HPO:

64
kabuki syndrome 1:
Inheritance: autosomal dominant inheritance

GeneReviews:

23
Penetrance: penetrance for pathogenic variants in kmt2d appears to be complete; not enough information is available to make any conclusions regarding penetrance for those with pathogenic variants in kdm6a. variable expressivity may lead to underascertainment of mildly affected individuals...


Classifications:



External Ids:

OMIM52 147920
Disease Ontology11 DOID:0060473
Orphanet54 ORPHA2322
MESH via Orphanet40 C537705
UMLS via Orphanet69 C0796004
ICD10 via Orphanet31 Q87.0
MedGen37 C0796004

Summaries for Kabuki Syndrome 1

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NIH Rare Diseases:48 Kabuki syndrome is a rare disorder that affects multiple parts of the body. it is present from birth. specific symptoms and severity can vary. features often include a characteristic facial appearance; skeletal abnormalities; short stature; heart defects; and intellectual disability. other signs and symptoms may include seizures, microcephaly, weak muscle tone (hypotonia), eye problems, cleft palate, and dental problems. a variety of other health problems may also occur. kabuki syndrome is most often caused by a mutation in the kmt2d gene, and inherited in an autosomal dominant manner. some cases are due to a mutation in the kdm6a gene and are inherited in an x-linked dominant manner. treatment is focused on the specific signs and symptoms in each affected person. last updated: 2/8/2016

MalaCards based summary: Kabuki Syndrome 1, also known as kabuki syndrome, is related to kabuki syndrome 2 and extranodal nasal nk/t cell lymphoma, and has symptoms including Array, Array and Array. An important gene associated with Kabuki Syndrome 1 is KMT2D (Lysine Methyltransferase 2D), and among its related pathways is Rap1 signalling. Affiliated tissues include eye, heart and skin.

UniProtKB/Swiss-Prot:70 Kabuki syndrome 1: A congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids, a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy.

Genetics Home Reference:25 Kabuki syndrome is a disorder that affects many parts of the body. It is characterized by distinctive facial features including arched eyebrows; long eyelashes; long openings of the eyelids (long palpebral fissures) with the lower lids turned out (everted) at the outside edges; a flat, broadened tip of the nose; and large protruding earlobes. The name of this disorder comes from the resemblance of its characteristic facial appearance to stage makeup used in traditional Japanese Kabuki theater.

OMIM:52 Kabuki syndrome is a congenital mental retardation syndrome with additional features, including postnatal dwarfism, a... (147920) more...

Disease Ontology:11 A syndrome characterized by multiple congenital anomalies and mental retardation. Other characteristics include a peculiar facial gestalt, short stature, skeletal and visceral abnormalities, cardiac anomalies, and immunological defects.

Wikipedia:71 Kabuki syndrome, also previously known as Kabuki makeup syndrome, KMS or Niikawa–Kuroki Syndrome,... more...

GeneReviews for NBK62111

Related Diseases for Kabuki Syndrome 1

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Diseases in the Kabuki Syndrome 1 family:

Kabuki Syndrome 2 Kdm6a-Related Kabuki Syndrome
Kmt2d-Related Kabuki Syndrome

Diseases related to Kabuki Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 121)
idRelated DiseaseScoreTop Affiliating Genes
1kabuki syndrome 212.3
2extranodal nasal nk/t cell lymphoma12.2
3chronic nk-cell lymphocytosis11.9
4kdm6a-related kabuki syndrome11.9
5kmt2d-related kabuki syndrome11.8
6nk-cell enteropathy11.8
7severe combined immunodeficiency, b cell-negative11.7
8severe combined immune deficiency, autosomal recessive t cell-negative, b cell-positive, nk cell-positive, il7r-related11.7
9severe combined immune deficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative, jak3-related11.7
10severe combined immune deficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive, cd3d-related11.7
11severe combined immune deficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive, cd3e-related11.7
12severe combined immune deficiency, autosomal recessive t cell-negative, b cell-positive, nk cell-positive, ptprc-related11.7
13severe combined immune deficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-positive, rag1/rag2-related11.7
14blastic plasmacytoid dendritic cell11.6
15hypogonadotropic hypogonadism 1 with or without anosmia11.5
16severe combined immunodeficiency, x-linked11.5
17severe combined immunodeficiency, t cell-negative, b-cell/natural killer-cell positive11.5
18scid, autosomal recessive, t-negative/b-positive type11.4
19severe combined immunodeficiency due to ada deficiency11.4
20immunodeficiency 1911.4
21immunodeficiency 2011.4
22severe combined immunodeficiency, athabascan type11.4
23natural killer cell leukemia11.4
24immunodeficiency 2111.3
25immunodeficiency 17, cd3 gamma deficient11.3
26malignant histiocytosis11.2
2711.0
28immunodeficiency 4910.9
29hardikar syndrome10.9
30immunodeficiency 4010.8
31immunodeficiency 1810.8
32immunodeficiency, primary, autosomal recessive, il21r-related10.8
33hemangioma-thrombocytopenia syndrome10.8
34severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation10.8
35adenosine deaminase deficiency10.8
36hemophagocytic lymphohistiocytosis, familial, 410.7
37natural killer cell and glucocorticoid deficiency with dna repair defect10.7
38hemophagocytic lymphohistiocytosis, familial, 210.7
39autoimmune lymphoproliferative syndrome, type iib10.7
40interleukin-7 receptor alpha deficiency10.7
41neurotrophic keratopathy10.7
42polymorphic reticulosis10.7
43cytogenetically normal acute myeloid leukemia10.7
44lymphoma10.5
45peripheral t-cell lymphoma10.4
46mycosis fungoides10.4
47enteropathy-associated t-cell lymphoma10.3
48hypoplastic left heart syndrome9.8
49neuropathy9.8
50van der woude syndrome9.8

Graphical network of the top 20 diseases related to Kabuki Syndrome 1:



Diseases related to kabuki syndrome 1

Symptoms & Phenotypes for Kabuki Syndrome 1

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Symptoms by clinical synopsis from OMIM:

147920

Clinical features from OMIM:

147920

Human phenotypes related to Kabuki Syndrome 1:

 54 64 (show all 94)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cryptorchidism64 54 Occasional (29-5%) HP:0000028
2 hypospadias64 54 Occasional (29-5%) HP:0000047
3 ureteropelvic junction obstruction64 54 Occasional (29-5%) HP:0000074
4 duplicated collecting system64 54 Occasional (29-5%) HP:0000081
5 hydronephrosis64 54 Occasional (29-5%) HP:0000126
6 abnormality of the teeth64 54 Frequent (79-30%) HP:0000164
7 cleft palate64 54 Frequent (79-30%) HP:0000175
8 oral cleft54 Frequent (79-30%)
9 high palate64 54 Frequent (79-30%) HP:0000218
10 hydrocephalus64 54 Frequent (79-30%) HP:0000238
11 microcephaly64 54 Frequent (79-30%) HP:0000252
12 mask-like facies64 54 Occasional (29-5%) HP:0000298
13 preauricular skin tag64 54 Occasional (29-5%) HP:0000384
14 macrotia64 54 Very frequent (99-80%) HP:0000400
15 conductive hearing impairment64 54 Frequent (79-30%) HP:0000405
16 sensorineural hearing impairment64 54 Frequent (79-30%) HP:0000407
17 protruding ear64 54 Very frequent (99-80%) HP:0000411
18 microcornea64 54 Occasional (29-5%) HP:0000482
19 strabismus64 54 Frequent (79-30%) HP:0000486
20 ptosis64 54 Frequent (79-30%) HP:0000508
21 long eyelashes64 54 Very frequent (99-80%) HP:0000527
22 coloboma64 54 Occasional (29-5%) HP:0000589
23 blue sclerae64 54 Occasional (29-5%) HP:0000592
24 nystagmus64 54 Occasional (29-5%) HP:0000639
25 hypodontia64 54 Frequent (79-30%) HP:0000668
26 widely spaced teeth64 54 Frequent (79-30%) HP:0000687
27 microdontia64 54 Frequent (79-30%) HP:0000691
28 congenital diaphragmatic hernia64 54 Occasional (29-5%) HP:0000776
29 precocious puberty64 54 Occasional (29-5%) HP:0000826
30 seizures64 54 Occasional (29-5%) HP:0001250
31 muscular hypotonia64 54 Frequent (79-30%) HP:0001252
32 failure to thrive64 54 Frequent (79-30%) HP:0001508
33 obesity64 54 Occasional (29-5%) HP:0001513
34 abnormality of the cardiac septa64 54 Frequent (79-30%) HP:0001671
35 coarctation of aorta64 54 Frequent (79-30%) HP:0001680
36 short columella64 54 Very frequent (99-80%) HP:0002000
37 ventriculomegaly64 54 Frequent (79-30%) HP:0002119
38 cerebral cortical atrophy64 54 Frequent (79-30%) HP:0002120
39 eeg abnormality64 54 Occasional (29-5%) HP:0002353
40 highly arched eyebrow64 54 Very frequent (99-80%) HP:0002553
41 scoliosis64 54 Frequent (79-30%) HP:0002650
42 recurrent infections64 54 Frequent (79-30%) HP:0002719
43 hip dislocation64 54 Occasional (29-5%) HP:0002827
44 hemivertebrae64 54 Very frequent (99-80%) HP:0002937
45 abnormal form of the vertebral bodies54 Very frequent (99-80%)
46 butterfly vertebrae64 54 Very frequent (99-80%) HP:0003316
47 short stature64 54 Frequent (79-30%) HP:0004322
48 crossed fused renal ectopia64 54 Occasional (29-5%) HP:0004736
49 sparse lateral eyebrow64 54 Very frequent (99-80%) HP:0005338
50 joint hyperflexibility64 54 Frequent (79-30%) HP:0005692
51 short middle phalanx of finger64 54 Very frequent (99-80%) HP:0005819
52 abnormality of dental morphology54 Frequent (79-30%)
53 abnormal dermatoglyphics64 54 Very frequent (99-80%) HP:0007477
54 eversion of lateral third of lower eyelids64 54 Very frequent (99-80%) HP:0007655
55 vertebral clefting54 Very frequent (99-80%)
56 renal hypoplasia/aplasia64 54 Occasional (29-5%) HP:0008678
57 hypoplasia of penis64 54 Occasional (29-5%) HP:0008736
58 short 5th finger64 54 Very frequent (99-80%) HP:0009237
59 abnormality of immune system physiology54 Frequent (79-30%)
60 feeding difficulties64 54 Frequent (79-30%) HP:0011968
61 lip pit64 54 Occasional (29-5%) HP:0100267
62 abnormal localization of kidney54 Occasional (29-5%)
63 small hand64 54 Occasional (29-5%) HP:0200055
64 micropenis64 HP:0000054
65 posteriorly rotated ears64 HP:0000358
66 hearing impairment64 HP:0000365
67 recurrent otitis media64 HP:0000403
68 wide nasal bridge64 HP:0000431
69 depressed nasal tip64 HP:0000437
70 sparse and thin eyebrow64 HP:0000535
71 long palpebral fissure64 HP:0000637
72 congenital hypothyroidism64 HP:0000851
73 cafe-au-lait spot64 HP:0000957
74 hirsutism64 HP:0001007
75 prominent fingertip pads64 HP:0001212
76 intellectual disability64 HP:0001249
77 global developmental delay64 HP:0001263
78 congenital hip dislocation64 HP:0001374
79 joint hypermobility64 HP:0001382
80 ventricular septal defect64 HP:0001629
81 atrial septal defect64 HP:0001631
82 hemolytic anemia64 HP:0001878
83 autoimmune thrombocytopenia64 HP:0001973
84 anal atresia64 HP:0002023
85 malabsorption64 HP:0002024
86 anal stenosis64 HP:0002025
87 recurrent aspiration pneumonia64 HP:0002100
88 intestinal malrotation64 HP:0002566
89 abnormality of the vertebrae64 HP:0003468
90 preauricular pit64 HP:0004467
91 anoperineal fistula64 HP:0005218
92 feeding difficulties in infancy64 HP:0008872
93 postnatal growth retardation64 HP:0008897
94 premature thelarche64 HP:0010314

Drugs & Therapeutics for Kabuki Syndrome 1

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Drugs for Kabuki Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 12)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Risperidoneapproved, investigational492106266-06-25073
Synonyms:
106266-06-2
3-(2-(4-(6-Fluoro-1,2-benzisoxazol-3-yl)piperidino)ethyl)-6,7,8,9-tetrahydro-2-methyl-4H-pyrido(1,2-a)pyrimidin-4-one
3-(2-[4-(6-fluoro-benzo[d]isoxazol-3-yl)-piperidin-1-yl]-ethyl)-2-methyl-6,7,8,9-tetrahydro-pyrido[
3-(2-[4-(6-fluoro-benzo[d]isoxazol-3-yl)-piperidin-1-yl]-ethyl)-2-methyl-6,7,8,9-tetrahydropyrido[1,
3-[2-[-4-(6-fluoro-1,2-benzisoxazol-3-yl)-1-piperidinyl]ethyl]-6,7,8,9-tetrahydro-2-methyl-4H-pyrido[1,2-a]pyrimidin-4-one
3-[2-[4-(6-Fluoro-1,2-benzisoxazol-3-yl)-1-piperidinyl]-6,7,8,9-tetrahydro-2-methyl-4H-pyrido [1,2-a] pyrimidin-4-one
3-[2-[4-(6-Fluoro-1,2-benzisoxazol-3-yl)piperi-dino]ethyl]-6,7,8,9-tetrahydro-2-methyl-4H-pyrido[1,2-a]-pyrimidin-4-one
3-[2-[4-(6-fluoro-1,2-benzisoxazol-3-yl)-1-piperidinyl]ethyl]-6,7,8,9-tetrahydro-2-methyl-4H-pyrido[1,2-a]pyrimidin-4-one
3-[2-[4-(6-fluoro-1,2-benzoxazol-3-yl)piperidin-1-yl]ethyl]-2-methyl-6,7,8,9-tetrahydropyrido[1,2-a]pyrimidin-4-one
3-[2-[4-(6-fluoro-benzo[d]isoxazol-3-yl)-piperidin-1-yl]-ethyl]-2-methyl-6,7,8,9-tetrahydropyrido[1,
3-{2-[4-(6-Fluoro-benzo[d]isoxazol-3-yl)-piperidin-1-yl]-ethyl}-2-methyl-6,7,8,9-tetrahydropyrido[1,2-a]pyrimidin-4-one
3-{2-[4-(6-fluoro-1,2-benzisoxazol-3-yl)piperidin-1-yl]ethyl}-2-methyl-6,7,8,9-tetrahydro-4H-pyrido[1,2-a]pyrimidin-4-one
3-{2-[4-(6-fluoro-1,2-benzoxazol-3-yl)piperidin-1-yl]ethyl}-2-methyl-6,7,8,9-tetrahydro-4H-pyrido[1,2-a]pyrimidin-4-one
AB00514010
AC-1306
AC1L1JJU
BIDD:GT0262
BRD-K53857191-001-04-5
BRN 4891881
Belivon
Bio-0092
Buspirone
C23H27FN4O2
CAS-106266-06-2
CHEBI:8871
CHEMBL85
CID5073
CPD000466323
Consta, Risperdal
D00426
D018967
DB00734
EU-0101074
HMS1571M19
HMS2051H07
HMS2089C22
HSDB 7580
I01-1156
Jsp000573
KS-1106
L000510
LS-134196
Lopac-R-118
MLS000759429
MLS001165758
MLS001424081
MolPort-002-885-858
 
NCGC00015883-01
NCGC00015883-02
NCGC00015883-03
NCGC00094352-01
NCGC00094352-02
NCGC00094352-03
NCGC00179257-01
Prestwick0_001029
Prestwick1_001029
R 62 766
R 64 766, Risperdal, Risperidone
R 64,766
R 64766
R-118
R-64,766
R-64-766
R-64766
R64,766
R64766
Rispen
Risperdal
Risperdal (TN)
Risperdal Consta
Risperdal M-Tab
Risperidal
Risperidal M-Tab
Risperidona
Risperidona [Spanish]
Risperidone
Risperidone (JAN/USAN/INN)
Risperidone (RIS)
Risperidone [USAN:BAN:INN]
Risperidone, placebo
Risperidonum
Risperidonum [Latin]
Risperin
Rispolept
Rispolin
S1615_Selleck
SAM001246595
SMR000466323
SPBio_003078
STK646402
Sequinan
Spiron
TL8000230
UNII-L6UH7ZF8HC
risperdone
risperidone
2
Dopamineapproved383651-61-6, 62-31-7681
Synonyms:
(3H)-Dopamine
.Beta.-(3,4-Dihydroxyphenyl)ethylamine hydrochloride
.alpha.-(3,4-Dihydroxyphenyl)-.beta.-aminoethane
1,2-Benzenediol, 4-(2-aminoethyl)- (9CI)
1,2-Benzenediol, 4-(2-aminoethyl)-, hydrochloride
1,2-Benzenediol, 4-(2-aminoethyl)-, labeled with tritium
153C5321-5FEE-4B0B-8925-F388F0EEEBD1
2-(3,4-Dihydroxyphenyl)ethylamine
2-(3,4-dihydroxyphenyl)ethylamine
2-benzenediol
3,4-Dihydroxyphenethylamine
3,4-Dihydroxyphenethylamine hydrochloride
3,4-Dihydroxyphenylethylamine
3,4-dihydroxyphenethylamine
3-Hydroxtyramine
3-Hydroxytyramine
3-Hydroxytyramine Hydrobromide
3-Hydroxytyramine hydrochloride
4-(2-Aminoethyl)-1,
4-(2-Aminoethyl)-1,2-benzenediol
4-(2-Aminoethyl)-1,2-bezenediol
4-(2-Aminoethyl)-Pyrocatechol
4-(2-Aminoethyl)benzene-1,2-diol
4-(2-Aminoethyl)catechol
4-(2-Aminoethyl)pyrocatechol
4-(2-Aminoethyl)pyrocatechol hydrochloride
4-(2-aminoethyl)-pyrocatechol
50444-17-2
51-61-6
62-31-7 (HYDROCHLORIDE)
AC1L19S5
AC1Q54AX
AC1Q54AY
AKOS003790978
ASL 279
BIDD:ER0506
BPBio1_001123
BSPBio_001932
Biomol-NT_000001
C03758
CHEBI:18243
CHEMBL59
CID681
D07870
DB00988
Deoxyepinephrine
DivK1c_000780
Dopamin
Dopamina
Dopamina [INN-Spanish]
Dopamine
Dopamine (INN)
Dopamine (USAN)(*hydrochloride*)
Dopamine [INN:BAN]
Dopaminum
Dopaminum [INN-Latin]
Dopastat
Dophamine
Dynatra
EINECS 200-110-0
HSDB 3068
Hydroxytyramin
Hydroxytyramine
IDI1_000780
IP 498
Intropin
Intropin [*hydrochloride*]
KBio1_000780
 
KBio2_001492
KBio2_002388
KBio2_002484
KBio2_004060
KBio2_004956
KBio2_005052
KBio2_006628
KBio2_007524
KBio2_007620
KBio3_001152
KBio3_002867
KBio3_002962
KBioGR_001129
KBioGR_002388
KBioGR_002484
KBioSS_001492
KBioSS_002393
KBioSS_002491
KW-3-060
L-DOPAMINE
L000232
LDP
LS-159
Lopac-H-8502
Lopac0_000586
Medopa (TN)
MolPort-001-641-000
NCGC00015519-01
NCGC00015519-08
NCGC00096050-01
NCGC00096050-02
NCGC00096050-03
NCGC00096050-04
NCGC00096050-05
NINDS_000780
NSC 173182
NSC169105
NSC173182
Oprea1_088821
Oxytyramine
Pyrocatechol, 4-(2-aminoethyl)- (8CI)
Pyrocatechol, 4-(2-aminoethyl)-, hydrochloride
Revimine
Revivan
SPBio_001205
SPECTRUM1505155
ST048774
STK301601
Spectrum2_001023
Spectrum3_000406
Spectrum4_000525
Spectrum5_000945
Spectrum_001012
UNII-VTD58H1Z2X
UPCMLD0ENAT5885989:001
a-(3,4-Dihydroxyphenyl)-b-aminoethane
alpha-(3,4-Dihydroxyphenyl)-beta-aminoethane
cMAP_000036
cMAP_000065
dopamine
hydroxytyramine
intropin
m-Hydroxytyramine hydrochloride
nchembio.105-comp9
nchembio.107-comp4
nchembio.284-comp1
nchembio.78-comp16
nchembio.89-comp3
nchembio705-8
nchembio801-comp8
3
Serotonin362750-67-95202
Synonyms:
3-(2-Aminoethyl)-1H-indol-5-ol
3-(2-Aminoethyl)indol-5-ol
3-(b-Aminoethyl)-5-hydroxyindole
5-HT
5-HTA
5-Hydroxy-3-(b-aminoethyl)indole
 
5-Hydroxy-tryptamine
5-Hydroxyltryptamine
5-Hydroxytriptamine
5-Hydroxytryptamine
Antemovis
DS substance
Enteramin
Enteramine
4Serotonin Agents3156
5Serotonin Antagonists1409
6Tranquilizing Agents4265
7Neurotransmitter Agents18340
8Central Nervous System Depressants13403
9Dopamine Agents3836
10Dopamine Antagonists1093
11Antipsychotic Agents2401
12Psychotropic Drugs6430

Interventional clinical trials:

idNameStatusNCT IDPhase
1French Kabuki Syndrome Network. Epidemiology, Management of Patients and Research by Array-CGHCompletedNCT01314534
2Actigraphic Analysis of Treatment ResponseCompletedNCT00723580
3Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168

Search NIH Clinical Center for Kabuki Syndrome 1


Cochrane evidence based reviews: kabuki syndrome

Genetic Tests for Kabuki Syndrome 1

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Genetic tests related to Kabuki Syndrome 1:

id Genetic test Affiliating Genes
1 Kabuki Syndrome 127
2 Kabuki Syndrome27 24 KDM6A

Anatomical Context for Kabuki Syndrome 1

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MalaCards organs/tissues related to Kabuki Syndrome 1:

36
Eye, Heart, Skin, Kidney

Publications for Kabuki Syndrome 1

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Variations for Kabuki Syndrome 1

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UniProtKB/Swiss-Prot genetic disease variations for Kabuki Syndrome 1:

70 (show all 13)
id Symbol AA change Variation ID SNP ID
1KMT2Dp.Cys5109PheVAR_063830
2KMT2Dp.Arg5179HisVAR_063831rs267607237
3KMT2Dp.Arg5214HisVAR_063832rs398123729
4KMT2Dp.Arg5340LeuVAR_063833
5KMT2Dp.Thr5464MetVAR_063834rs267607238
6KMT2Dp.Pro647GlnVAR_074220rs200088180
7KMT2Dp.Arg5030CysVAR_074246
8KMT2Dp.Arg5048CysVAR_074250rs398123724
9KMT2Dp.Arg5048HisVAR_074251
10KMT2Dp.Arg5154GlnVAR_074253
11KMT2Dp.Arg5214CysVAR_074255
12KMT2Dp.Arg5471ThrVAR_074259
13KMT2Dp.Ser5498PheVAR_074261

Clinvar genetic disease variations for Kabuki Syndrome 1:

5 (show all 128)
id Gene Variation Type Significance SNP ID Assembly Location
1KMT2DNM_ 003482.3(KMT2D): c.11263C> T (p.Gln3755Ter)SNVPathogenicrs587783681GRCh37Chr 12, 49427225: 49427225
2KMT2DNM_ 003482.3(KMT2D): c.11290C> T (p.Gln3764Ter)SNVPathogenicrs587783682GRCh37Chr 12, 49427198: 49427198
3KMT2DNM_ 003482.3(KMT2D): c.11386delC (p.Gln3796Argfs)deletionPathogenicrs587783683GRCh37Chr 12, 49427102: 49427102
4KMT2DNM_ 003482.3(KMT2D): c.12592C> T (p.Arg4198Ter)SNVPathogenicrs587783685GRCh38Chr 12, 49032113: 49032113
5KMT2DNM_ 003482.3(KMT2D): c.12896delG (p.Gly4299Aspfs)deletionPathogenicrs587783686GRCh38Chr 12, 49031809: 49031809
6KMT2DNM_ 003482.3(KMT2D): c.12956_ 12957delGA (p.Arg4319Thrfs)deletionPathogenicrs587783687GRCh38Chr 12, 49031748: 49031749
7KMT2DNM_ 003482.3(KMT2D): c.12962C> A (p.Ser4321Ter)SNVPathogenicrs587783688GRCh37Chr 12, 49425526: 49425526
8KMT2DNM_ 003482.3(KMT2D): c.1329_ 1332delACCT (p.Pro444Argfs)deletionPathogenicrs587783689GRCh37Chr 12, 49446134: 49446137
9KMT2DNM_ 003482.3(KMT2D): c.13450C> T (p.Arg4484Ter)SNVPathogenicrs587783690GRCh37Chr 12, 49425038: 49425038
10KMT2DNM_ 003482.3(KMT2D): c.13518delC (p.Ser4507Alafs)deletionPathogenicrs587783691GRCh38Chr 12, 49031187: 49031187
11KMT2DNM_ 003482.3(KMT2D): c.13606C> T (p.Arg4536Ter)SNVPathogenicrs587783692GRCh37Chr 12, 49424741: 49424741
12KMT2DNM_ 003482.3(KMT2D): c.13996_ 13997delAG (p.Arg4666Glyfs)deletionPathogenicrs587783693GRCh37Chr 12, 49424065: 49424066
13KMT2DNM_ 003482.3(KMT2D): c.15061C> T (p.Arg5021Ter)SNVPathogenicrs587783695GRCh37Chr 12, 49420688: 49420688
14KMT2DNM_ 003482.3(KMT2D): c.15195G> A (p.Trp5065Ter)SNVPathogenicrs587783696GRCh38Chr 12, 49026771: 49026771
15KMT2DNM_ 003482.3(KMT2D): c.15791G> A (p.Trp5264Ter)SNVPathogenicrs587783697GRCh37Chr 12, 49418723: 49418723
16KMT2DNM_ 003482.3(KMT2D): c.15844C> T (p.Arg5282Ter)SNVPathogenicrs587783698GRCh38Chr 12, 49024887: 49024887
17KMT2DNM_ 003482.3(KMT2D): c.15943C> T (p.Gln5315Ter)SNVPathogenicrs587783699GRCh38Chr 12, 49024687: 49024687
18KMT2DNM_ 003482.3(KMT2D): c.16411A> T (p.Arg5471Trp)SNVLikely pathogenicrs587783700GRCh38Chr 12, 49022281: 49022281
19KMT2DNM_ 003482.3(KMT2D): c.16413G> T (p.Arg5471Ser)SNVLikely pathogenicrs587783702GRCh37Chr 12, 49415934: 49415934
20KMT2DNM_ 003482.3(KMT2D): c.16438_ 16441delAACT (p.Asn5480Valfs)deletionPathogenicrs587783703GRCh38Chr 12, 49022123: 49022126
21KMT2DNM_ 003482.3(KMT2D): c.16489_ 16491delATC (p.Ile5497del)deletionLikely pathogenicrs587783704GRCh37Chr 12, 49415856: 49415858
22KMT2DNM_ 003482.3(KMT2D): c.1813G> T (p.Glu605Ter)SNVPathogenicrs587783705GRCh38Chr 12, 49051870: 49051870
23KMT2DNM_ 003482.3(KMT2D): c.256G> T (p.Glu86Ter)SNVPathogenicrs587783708GRCh37Chr 12, 49448455: 49448455
24KMT2DNM_ 003482.3(KMT2D): c.3121C> T (p.Gln1041Ter)SNVPathogenicrs587783711GRCh37Chr 12, 49444250: 49444250
25KMT2DNM_ 003482.3(KMT2D): c.3553C> T (p.Gln1185Ter)SNVPathogenicrs587783712GRCh37Chr 12, 49443818: 49443818
26KMT2DNM_ 003482.3(KMT2D): c.3695delC (p.Pro1232Argfs)deletionPathogenicrs587783713GRCh37Chr 12, 49443676: 49443676
27KMT2DNM_ 003482.3(KMT2D): c.400+1G> CSNVPathogenicrs587783714GRCh37Chr 12, 49448310: 49448310
28KMT2DNM_ 003482.3(KMT2D): c.4221delC (p.Cys1408Valfs)deletionPathogenicrs587783715GRCh38Chr 12, 49047980: 49047980
29KMT2DNM_ 003482.3(KMT2D): c.4739delC (p.Pro1580Glnfs)deletionPathogenicrs587783719GRCh38Chr 12, 49045922: 49045922
30KMT2DNM_ 003482.3(KMT2D): c.6086delC (p.Pro2029Leufs)deletionPathogenicrs587783723GRCh37Chr 12, 49435895: 49435895
31KMT2DNM_ 003482.3(KMT2D): c.6126C> A (p.Cys2042Ter)SNVPathogenicrs556669370GRCh38Chr 12, 49041974: 49041974
32KMT2DNM_ 003482.3(KMT2D): c.6670_ 6674delGGGGA (p.Gly2224Ilefs)deletionPathogenicrs587783725GRCh37Chr 12, 49434879: 49434883
33KMT2DNM_ 003482.3(KMT2D): c.8053C> T (p.Arg2685Ter)SNVPathogenicrs587783727GRCh38Chr 12, 49039611: 49039611
34KMT2DNM_ 003482.3(KMT2D): c.8171_ 8175delCCAGC (p.Pro2724Glnfs)deletionPathogenicrs587783728GRCh38Chr 12, 49039489: 49039493
35KMT2DNM_ 003482.3(KMT2D): c.8743C> T (p.Arg2915Ter)SNVPathogenic/ Likely pathogenicrs587783729GRCh38Chr 12, 49038613: 49038613
36KMT2DNM_ 003482.3(KMT2D): c.15256C> T (p.Arg5086Ter)SNVPathogenicrs727503979GRCh38Chr 12, 49026710: 49026710
37KMT2DNM_ 003482.3(KMT2D): c.8488C> T (p.Arg2830Ter)SNVPathogenicrs727503983GRCh38Chr 12, 49038868: 49038868
38KMT2DNM_ 003482.3(KMT2D): c.4009G> T (p.Glu1337Ter)SNVPathogenicrs727503986GRCh38Chr 12, 49049116: 49049116
39KMT2DNM_ 003482.3(KMT2D): c.3754C> T (p.Arg1252Ter)SNVPathogenicrs727503987GRCh38Chr 12, 49049834: 49049834
40KMT2DNM_ 003482.3(KMT2D): c.2797+1G> ASNVPathogenicrs727503988GRCh37Chr 12, 49444668: 49444668
41KMT2DNM_ 003482.3(KMT2D): c.1814_ 1815delAG (p.Glu605Valfs)deletionPathogenicrs727503989GRCh37Chr 12, 49445651: 49445652
42KMT2DNM_ 003482.3(KMT2D): c.133delA (p.Ser45Valfs)deletionPathogenicrs727503990GRCh37Chr 12, 49448726: 49448726
43KMT2DNM_ 003482.3(KMT2D): c.12688C> T (p.Gln4230Ter)SNVLikely pathogenicrs793888511GRCh38Chr 12, 49032017: 49032017
44KMT2DNM_ 003482.3(KMT2D): c.9961C> T (p.Arg3321Ter)SNVLikely pathogenicrs793888512GRCh38Chr 12, 49037395: 49037395
45KMT2DNM_ 003482.3(KMT2D): c.14659G> T (p.Glu4887Ter)SNVLikely pathogenicrs793888513GRCh38Chr 12, 49027307: 49027307
46KMT2DNM_ 003482.3(KMT2D): c.15235_ 15238delAATG (p.Asn5079Trpfs)deletionLikely pathogenicrs793888514GRCh37Chr 12, 49420511: 49420514
47KMT2DNM_ 003482.3(KMT2D): c.7481dupT (p.Ala2496Serfs)duplicationLikely pathogenicrs35584294GRCh38Chr 12, 49040289: 49040289
48KMT2DNM_ 003482.3(KMT2D): c.16413-1G> CSNVLikely pathogenicrs793888515GRCh38Chr 12, 49022152: 49022152
49KMT2DNM_ 003482.3(KMT2D): c.11796_ 11813del18 (p.Gln3934_ Gln3939del)deletionLikely pathogenicrs793888516GRCh37Chr 12, 49426675: 49426692
50KMT2DNM_ 003482.3(KMT2D): c.14732C> T (p.Pro4911Leu)SNVLikely pathogenicrs183347186GRCh38Chr 12, 49027234: 49027234
51KMT2DNM_ 003482.3(KMT2D): c.2747_ 2748delCGinsAGCTGAGCCATCC (p.Pro916Glnfs)indelPathogenicrs797044630GRCh37Chr 12, 49444718: 49444719
52KMT2DNM_ 003482.3(KMT2D): c.3582dupC (p.Thr1195Hisfs)duplicationPathogenicrs796065328GRCh37Chr 12, 49443789: 49443789
53KMT2DNM_ 003482.3(KMT2D): c.4168dupG (p.Ala1390Glyfs)duplicationPathogenicrs756471180GRCh37Chr 12, 49441816: 49441816
54KMT2DNM_ 003482.3(KMT2D): c.4265G> A (p.Trp1422Ter)SNVPathogenicrs794727143GRCh37Chr 12, 49440545: 49440545
55KMT2DNM_ 003482.3(KMT2D): c.4485C> G (p.Tyr1495Ter)SNVPathogenicrs574622908GRCh37Chr 12, 49440141: 49440141
56KMT2DNM_ 003482.3(KMT2D): c.5131A> T (p.Lys1711Ter)SNVPathogenicrs794727342GRCh37Chr 12, 49438040: 49438040
57KMT2DNM_ 003482.3(KMT2D): c.5423delG (p.Gly1808Glufs)deletionPathogenicrs794727379GRCh37Chr 12, 49437462: 49437462
58KMT2DNM_ 003482.3(KMT2D): c.5677C> T (p.Gln1893Ter)SNVPathogenicrs794727420GRCh37Chr 12, 49436629: 49436629
59KMT2DNM_ 003482.3(KMT2D): c.177-12_ 177-2delGTGTGTCCACAdeletionPathogenicrs794727497GRCh37Chr 12, 49448536: 49448546
60KMT2DNM_ 003482.3(KMT2D): c.7375_ 7376delTC (p.Ser2459Profs)deletionPathogenicrs794727548GRCh37Chr 12, 49434177: 49434178
61KMT2DNM_ 003482.3(KMT2D): c.7903C> T (p.Arg2635Ter)SNVPathogenicrs794727549GRCh37Chr 12, 49433650: 49433650
62KMT2DNM_ 003482.3(KMT2D): c.11939delA (p.Gln3980Argfs)deletionPathogenicrs794727610GRCh37Chr 12, 49426549: 49426549
63KMT2DNM_ 003482.3(KMT2D): c.12481delG (p.Glu4161Serfs)deletionPathogenicrs794727611GRCh37Chr 12, 49426007: 49426007
64KMT2DNM_ 003482.3(KMT2D): c.13780dupG (p.Ala4594Glyfs)duplicationPathogenicrs797044740GRCh37Chr 12, 49424443: 49424443
65KMT2DNM_ 003482.3(KMT2D): c.14885dupA (p.Pro4963Alafs)duplicationPathogenicrs797044744GRCh37Chr 12, 49420864: 49420864
66KMT2DNM_ 003482.3(KMT2D): c.15172delG (p.Val5058Cysfs)deletionPathogenicrs794727689GRCh37Chr 12, 49420577: 49420577
67KMT2DNM_ 003482.3(KMT2D): c.16412+1G> TSNVPathogenicrs794727752GRCh37Chr 12, 49416062: 49416062
68KMT2DNM_ 003482.3(KMT2D): c.4237-2A> CSNVPathogenicrs797045001GRCh38Chr 12, 49046792: 49046792
69KMT2DNM_ 003482.3(KMT2D): c.11845C> T (p.Gln3949Ter)SNVPathogenicrs797045658GRCh38Chr 12, 49032860: 49032860
70KMT2DNM_ 003482.3(KMT2D): c.15079C> T (p.Arg5027Ter)SNVPathogenicrs797045659GRCh38Chr 12, 49026887: 49026887
71KMT2DNM_ 003482.3(KMT2D): c.2954_ 2955insT (p.Pro986Thrfs)insertionPathogenicrs797045660GRCh37Chr 12, 49444416: 49444417
72KMT2DNM_ 003482.3(KMT2D): c.303delG (p.Ser102Alafs)deletionPathogenicrs797045661GRCh38Chr 12, 49054625: 49054625
73KMT2DNM_ 003482.3(KMT2D): c.3585dupA (p.Pro1196Thrfs)duplicationPathogenicrs797045662GRCh37Chr 12, 49443786: 49443786
74KMT2DNM_ 003482.3(KMT2D): c.3591delC (p.Thr1198Leufs)deletionPathogenicrs797045663GRCh37Chr 12, 49443780: 49443780
75KMT2DNM_ 003482.3(KMT2D): c.4981dupG (p.Glu1661Glyfs)duplicationPathogenicrs797045667GRCh38Chr 12, 49044505: 49044505
76KMT2DNM_ 003482.3(KMT2D): c.6171dupA (p.Ala2058Serfs)duplicationPathogenicrs797045668GRCh37Chr 12, 49435712: 49435712
77KMT2DNM_ 003482.3(KMT2D): c.6172delG (p.Ala2058Profs)deletionPathogenicrs797045669GRCh38Chr 12, 49041928: 49041928
78KMT2DNM_ 003482.3(KMT2D): c.836dupG (p.Cys279Trpfs)duplicationPathogenicrs797045670GRCh38Chr 12, 49053479: 49053479
79KMT2DNM_ 003482.3(KMT2D): c.8445_ 8475dup31 (p.Ala2826Thrfs)duplicationPathogenicrs797045671GRCh38Chr 12, 49038881: 49038911
80KMT2DNM_ 003482.3(KMT2D): c.9540delT (p.Glu3181Argfs)deletionPathogenicrs797045672GRCh38Chr 12, 49037816: 49037816
81KMT2DNM_ 003482.3(KMT2D): c.11275C> T (p.Gln3759Ter)SNVPathogenicrs863224890GRCh38Chr 12, 49033430: 49033430
82KMT2DNM_ 003482.3(KMT2D): c.13884delC (p.Thr4629Profs)deletionPathogenicrs886040960GRCh38Chr 12, 49030395: 49030395
83KMT2DNM_ 003482.3(KMT2D): c.11770C> T (p.Gln3924Ter)SNVPathogenicrs886041106GRCh37Chr 12, 49426718: 49426718
84KMT2DNM_ 003482.3(KMT2D): c.11713C> T (p.Gln3905Ter)SNVPathogenicrs886042253GRCh37Chr 12, 49426775: 49426775
85KMT2DNM_ 003482.3(KMT2D): c.1966delC (p.Leu656Cysfs)deletionPathogenicrs886042284GRCh37Chr 12, 49445500: 49445500
86KMT2DNM_ 003482.3(KMT2D): c.9041_ 9042delTG (p.Leu3014Argfs)deletionPathogenicrs886043252GRCh37Chr 12, 49432097: 49432098
87KMT2DNM_ 003482.3(KMT2D): c.5104C> T (p.Arg1702Ter)SNVPathogenicrs886043414GRCh37Chr 12, 49438067: 49438067
88KMT2DNM_ 003482.3(KMT2D): c.7643dupA (p.Pro2549Alafs)duplicationPathogenicrs886043495GRCh37Chr 12, 49433910: 49433910
89KMT2DNM_ 003482.3(KMT2D): c.13324delG (p.Ala4442Hisfs)deletionPathogenicrs886043505GRCh37Chr 12, 49425164: 49425164
90KMT2DNM_ 003482.3(KMT2D): c.5124_ 5125delAC (p.Arg1709Hisfs)deletionPathogenicrs886043506GRCh37Chr 12, 49438046: 49438047
91KMT2DNM_ 003482.3(KMT2D): c.14075+1G> ASNVPathogenicrs1057516039GRCh37Chr 12, 49423183: 49423183
92KMT2DNM_ 003482.3(KMT2D): c.2389C> G (p.Leu797Val)SNVLikely pathogenicrs1057518680GRCh37Chr 12, 49445077: 49445077
93KMT2DNM_ 003482.3(KMT2D): c.11475_ 11478delACAG (p.Gln3826Cysfs)deletionPathogenicrs1057519067GRCh37Chr 12, 49427010: 49427013
94KMT2DNM_ 003482.3(KMT2D): c.466G> T (p.Glu156Ter)SNVPathogenicrs1057519422GRCh38Chr 12, 49054351: 49054351
95KMT2DNM_ 003482.3(KMT2D): c.2994delT (p.Met999Terfs)deletionPathogenicrs1057519595GRCh37Chr 12, 49444377: 49444377
96KMT2DNM_ 003482.3(KMT2D): c.12661C> T (p.Gln4221Ter)SNVPathogenicrs1060499669GRCh37Chr 12, 49425827: 49425827
97KMT2DNM_ 003482.3(KMT2D): c.5852delC (p.Pro1951Argfs)deletionPathogenicrs1060499724GRCh38Chr 12, 49042576: 49042576
98KMT2DNM_ 003482.3(KMT2D): c.10810C> T (p.Gln3604Ter)SNVPathogenicrs1060499552GRCh37Chr 12, 49427678: 49427678
99KMT2DNM_ 003482.3(KMT2D): c.15536G> A (p.Arg5179His)SNVPathogenicrs267607237GRCh37Chr 12, 49420213: 49420213
100KMT2DNM_ 003482.3(KMT2D): c.13579A> T (p.Lys4527Ter)SNVPathogenicrs267607240GRCh37Chr 12, 49424768: 49424768
101KMT2DNM_ 003482.3(KMT2D): c.16360C> T (p.Arg5454Ter)SNVPathogenicrs267607239GRCh37Chr 12, 49416115: 49416115
102KMT2DNM_ 003482.3(KMT2D): c.10623_ 10629delTCTGTGTinsCGCAAGTCACG (p.Leu3542Alafs)indelPathogenicrs398123699GRCh37Chr 12, 49427961: 49427967
103KMT2DNM_ 003482.3(KMT2D): c.10740G> A (p.Gln3580=)SNVLikely pathogenicrs398123700GRCh37Chr 12, 49427850: 49427850
104KMT2DNM_ 003482.3(KMT2D): c.10819C> T (p.Gln3607Ter)SNVPathogenicrs398123701GRCh37Chr 12, 49427669: 49427669
105KMT2DNM_ 003482.3(KMT2D): c.10834C> T (p.Gln3612Ter)SNVPathogenicrs398123702GRCh37Chr 12, 49427654: 49427654
106KMT2DNM_ 003482.3(KMT2D): c.11149C> T (p.Gln3717Ter)SNVPathogenicrs398123704GRCh37Chr 12, 49427339: 49427339
107KMT2DNM_ 003482.3(KMT2D): c.11201_ 11202delTG (p.Leu3734Profs)deletionPathogenicrs398123706GRCh37Chr 12, 49427286: 49427287
108KMT2DNM_ 003482.3(KMT2D): c.11692C> T (p.Gln3898Ter)SNVPathogenicrs398123708GRCh37Chr 12, 49426796: 49426796
109KMT2DNM_ 003482.3(KMT2D): c.12406C> T (p.Gln4136Ter)SNVPathogenicrs398123711GRCh37Chr 12, 49426082: 49426082
110KMT2DNM_ 003482.3(KMT2D): c.12430C> T (p.Gln4144Ter)SNVPathogenicrs398123712GRCh37Chr 12, 49426058: 49426058
111KMT2DNM_ 003482.3(KMT2D): c.1300dupC (p.Leu434Profs)duplicationPathogenicrs398123715GRCh37Chr 12, 49446166: 49446166
112KMT2DNM_ 003482.3(KMT2D): c.13032delC (p.Lys4345Asnfs)deletionPathogenic/ Likely pathogenicrs398123716GRCh37Chr 12, 49425456: 49425456
113KMT2DNM_ 003482.3(KMT2D): c.14580dupT (p.Asp4861Terfs)duplicationPathogenicrs398123720GRCh37Chr 12, 49421649: 49421649
114KMT2DNM_ 003482.3(KMT2D): c.14710C> T (p.Arg4904Ter)SNVPathogenicrs398123721GRCh37Chr 12, 49421039: 49421039
115KMT2DNM_ 003482.3(KMT2D): c.15030dupA (p.Glu5011Argfs)duplicationPathogenicrs398123722GRCh37Chr 12, 49420719: 49420719
116KMT2DNM_ 003482.3(KMT2D): c.15104G> C (p.Cys5035Ser)SNVLikely pathogenicrs398123723GRCh37Chr 12, 49420645: 49420645
117KMT2DNM_ 003482.3(KMT2D): c.15641G> A (p.Arg5214His)SNVLikely pathogenicrs398123729GRCh37Chr 12, 49420108: 49420108
118KMT2DNM_ 003482.3(KMT2D): c.15953_ 15956delTATT (p.Leu5318Serfs)deletionPathogenicrs398123732GRCh37Chr 12, 49418457: 49418460
119KMT2DNM_ 003482.3(KMT2D): c.16109delG (p.Gly5370Alafs)deletionPathogenicrs398123733GRCh37Chr 12, 49416602: 49416602
120KMT2DNM_ 003482.3(KMT2D): c.16306_ 16322del17insC (p.Ala5436Glnfs)indelPathogenicrs398123735GRCh37Chr 12, 49416389: 49416405
121KMT2DNM_ 003482.3(KMT2D): c.3532C> T (p.Gln1178Ter)SNVPathogenicrs398123741GRCh37Chr 12, 49443839: 49443839
122KMT2DNM_ 003482.3(KMT2D): c.3834_ 3846delTATCAGCGGAGGC (p.Ile1279Lysfs)deletionPathogenicrs398123743GRCh37Chr 12, 49443525: 49443537
123KMT2DNM_ 003482.3(KMT2D): c.4135_ 4136delAT (p.Met1379Valfs)deletionPathogenicrs398123744GRCh37Chr 12, 49441848: 49441849
124KMT2DNM_ 003482.3(KMT2D): c.5645-2A> GSNVPathogenicrs398123750GRCh37Chr 12, 49436663: 49436663
125KMT2DNM_ 003482.3(KMT2D): c.5908_ 5915delGACAGCCC (p.Asp1970Leufs)deletionPathogenic/ Likely pathogenicrs398123751GRCh37Chr 12, 49436066: 49436073
126KMT2DNM_ 003482.3(KMT2D): c.6595delT (p.Tyr2199Ilefs)deletionPathogenic/ Likely pathogenicrs398123753GRCh37Chr 12, 49434958: 49434958
127KMT2DNM_ 003482.3(KMT2D): c.7066C> T (p.Gln2356Ter)SNVPathogenicrs398123757GRCh37Chr 12, 49434487: 49434487
128KMT2DNM_ 003482.3(KMT2D): c.7140delG (p.Gln2380Hisfs)deletionPathogenicrs398123758GRCh37Chr 12, 49434413: 49434413

Copy number variations for Kabuki Syndrome 1 from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1150617201190000017800000MicrodeletionC20orf133Kabuki syndrome

Expression for genes affiliated with Kabuki Syndrome 1

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Search GEO for disease gene expression data for Kabuki Syndrome 1.

Pathways for genes affiliated with Kabuki Syndrome 1

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Pathways related to Kabuki Syndrome 1 according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
110.2RAP1A, RAP1B

GO Terms for genes affiliated with Kabuki Syndrome 1

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Cellular components related to Kabuki Syndrome 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1histone methyltransferase complexGO:003509710.3ASH2L, KDM6A, KMT2D
2MLL3/4 complexGO:004466610.1ASH2L, KDM6A, KMT2D

Biological processes related to Kabuki Syndrome 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1establishment of endothelial barrierGO:006102810.7RAP1A, RAP1B
2microvillus assemblyGO:003003310.5RAP1A, RAP1B
3negative regulation of synaptic vesicle exocytosisGO:200030110.5RAP1A, RAP1B
4histone H3-K4 methylationGO:005156810.5ASH2L, KDM6A, KMT2D
5Rap protein signal transductionGO:003248610.3RAP1A, RAP1B
6regulation of cell junction assemblyGO:190188810.2RAP1A, RAP1B

Molecular functions related to Kabuki Syndrome 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1histone methyltransferase activity (H3-K4 specific)GO:004280010.2ASH2L, KMT2D

Sources for Kabuki Syndrome 1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet