MCID: KBK002
MIFTS: 49

Kabuki Syndrome 1 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 50 68 12
Kabuki Syndrome 11 22 46 23 24 13 52 68 25 37
Niikawa-Kuroki Syndrome 11 22 46 23 24 52 68
Kabuki Make-Up Syndrome 22 23 24 52 68 25
Kms 11 46 24 68
 
Kabuki Make Up Syndrome 11 46
Kabuki Makeup Syndrome 24
Kabuk1 68
Nks 46

Characteristics:

Orphanet epidemiological data:

52
kabuki syndrome:
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal; Age of death: any age

HPO:

62
kabuki syndrome 1:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 147920
Disease Ontology11 DOID:0060473
Orphanet52 ORPHA2322
ICD10 via Orphanet29 Q87.0
MESH via Orphanet38 C537705
UMLS via Orphanet67 C0796004
MedGen35 C0796004
UMLS66 C0796004

Summaries for Kabuki Syndrome 1

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NIH Rare Diseases:46 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 abnormality of the nose, macrotia and abnormality of the eyelashes. An important gene associated with Kabuki Syndrome 1 is KMT2D (Lysine Methyltransferase 2D), and among its related pathways are Rap1 signalling and G-protein signaling_RhoA regulation pathway. Affiliated tissues include eye, heart and skin.

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.

Genetics Home Reference:24 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 theater called Kabuki.

OMIM:50 Kabuki syndrome is a congenital mental retardation syndrome with additional features, including postnatal dwarfism, a... (147920) more...

UniProtKB/Swiss-Prot:68 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.

Wikipedia:69 Kabuki syndrome, also previously known as Kabuki makeup syndrome, KMS or Niikawa–Kuroki Syndrome, is a... more...

GeneReviews summary 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 113)
idRelated DiseaseScoreTop Affiliating Genes
1kabuki syndrome 212.2
2extranodal nasal nk/t cell lymphoma12.1
3chronic nk-cell lymphocytosis12.1
4kdm6a-related kabuki syndrome12.0
5kmt2d-related kabuki syndrome11.9
6nk-cell enteropathy11.9
7severe immunodeficiency, autosomal recessive, t-cell negative, b-cell negative, nk cell-positive11.9
8severe combined immune deficiency, autosomal recessive t cell-negative, b cell-positive, nk cell-positive, il7r-related11.9
9severe combined immune deficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative, jak3-related11.9
10severe combined immune deficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive, cd3d-related11.9
11severe combined immune deficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive, cd3e-related11.9
12severe combined immune deficiency, autosomal recessive t cell-negative, b cell-positive, nk cell-positive, ptprc-related11.8
13severe combined immune deficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-positive, rag1/rag2-related11.8
14blastic plasmacytoid dendritic cell11.7
15severe combined immunodeficiency, b cell-negative11.6
16hypogonadotropic hypogonadism 1 with or without anosmia11.6
17natural killer cell leukemia11.5
18severe combined immunodeficiency, t cell-negative, b-cell/natural killer-cell positive11.5
19scid, autosomal recessive, t-negative/b-positive type11.4
20severe combined immunodeficiency due to ada deficiency11.4
21severe combined immunodeficiency, athabascan type11.3
22severe combined immunodeficiency, x-linked11.3
23malignant histiocytosis11.3
24immunodeficiency 1911.3
25gamma chain deficiency11.3
26immunodeficiency 2011.2
27immunodeficiency 2111.1
28immunodeficiency 17, cd3 gamma deficient11.1
29mckusick-kaufman syndrome10.9
30bardet-biedl syndrome 610.9
31severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation10.9
32adenosine deaminase deficiency10.9
33polymorphic reticulosis10.8
34cytogenetically normal acute myeloid leukemia10.8
35lymphoma10.6
36clear cell ependymoma10.6KDM6A, KMT2D
37peripheral t-cell lymphoma10.5
38mycosis fungoides10.5
39enteropathy-associated t-cell lymphoma10.4
40hardikar syndrome10.0
41hypoplastic left heart syndrome9.9
42neuropathy9.9
43microphthalmia9.9
44cholestasis9.9
45purpura9.9
46aortic coarctation9.9
47growth hormone deficiency9.9
48colorectal cancer9.8
49systemic lupus erythematosus9.8
50neural tube defects9.8

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



Diseases related to kabuki syndrome 1

Symptoms for Kabuki Syndrome 1

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Symptoms by clinical synopsis from OMIM:

147920

Clinical features from OMIM:

147920

Symptoms:

 52 (show all 63)
  • cryptorchidism
  • hypospadias
  • ureteropelvic junction obstruction
  • duplicated collecting system
  • hydronephrosis
  • abnormality of the teeth
  • cleft palate
  • oral cleft
  • high palate
  • hydrocephalus
  • microcephaly
  • mask-like facies
  • preauricular skin tag
  • macrotia
  • conductive hearing impairment
  • sensorineural hearing impairment
  • protruding ear
  • microcornea
  • strabismus
  • ptosis
  • long eyelashes
  • coloboma
  • blue sclerae
  • nystagmus
  • hypodontia
  • widely spaced teeth
  • microdontia
  • congenital diaphragmatic hernia
  • precocious puberty
  • seizures
  • muscular hypotonia
  • failure to thrive
  • obesity
  • abnormality of the cardiac septa
  • coarctation of aorta
  • short columella
  • ventriculomegaly
  • cerebral cortical atrophy
  • eeg abnormality
  • highly arched eyebrow
  • scoliosis
  • recurrent infections
  • hip dislocation
  • hemivertebrae
  • abnormal form of the vertebral bodies
  • butterfly vertebrae
  • short stature
  • crossed fused renal ectopia
  • sparse lateral eyebrow
  • joint hyperflexibility
  • short middle phalanx of finger
  • abnormality of dental morphology
  • abnormal dermatoglyphics
  • eversion of lateral third of lower eyelids
  • vertebral clefting
  • renal hypoplasia/aplasia
  • hypoplasia of penis
  • short 5th finger
  • abnormality of immune system physiology
  • feeding difficulties
  • lip pit
  • abnormal localization of kidney
  • small hand

HPO human phenotypes related to Kabuki Syndrome 1:

(show all 97)
id Description Frequency HPO Source Accession
1 abnormality of the nose hallmark (90%) HP:0000366
2 macrotia hallmark (90%) HP:0000400
3 abnormality of the eyelashes hallmark (90%) HP:0000499
4 brachydactyly syndrome hallmark (90%) HP:0001156
5 highly arched eyebrow hallmark (90%) HP:0002553
6 abnormal form of the vertebral bodies hallmark (90%) HP:0003312
7 sparse lateral eyebrow hallmark (90%) HP:0005338
8 abnormal dermatoglyphics hallmark (90%) HP:0007477
9 cognitive impairment hallmark (90%) HP:0100543
10 cleft palate typical (50%) HP:0000175
11 hydrocephalus typical (50%) HP:0000238
12 microcephaly typical (50%) HP:0000252
13 conductive hearing impairment typical (50%) HP:0000405
14 sensorineural hearing impairment typical (50%) HP:0000407
15 strabismus typical (50%) HP:0000486
16 ptosis typical (50%) HP:0000508
17 blue sclerae typical (50%) HP:0000592
18 microdontia typical (50%) HP:0000691
19 muscular hypotonia typical (50%) HP:0001252
20 joint hypermobility typical (50%) HP:0001382
21 abnormality of the cardiac septa typical (50%) HP:0001671
22 abnormality of the aorta typical (50%) HP:0001679
23 ventriculomegaly typical (50%) HP:0002119
24 cerebral cortical atrophy typical (50%) HP:0002120
25 scoliosis typical (50%) HP:0002650
26 short stature typical (50%) HP:0004322
27 reduced number of teeth typical (50%) HP:0009804
28 abnormality of immune system physiology typical (50%) HP:0010978
29 non-midline cleft lip typical (50%) HP:0100335
30 cryptorchidism occasional (7.5%) HP:0000028
31 mask-like facies occasional (7.5%) HP:0000298
32 preauricular skin tag occasional (7.5%) HP:0000384
33 microcornea occasional (7.5%) HP:0000482
34 chorioretinal coloboma occasional (7.5%) HP:0000567
35 nystagmus occasional (7.5%) HP:0000639
36 congenital diaphragmatic hernia occasional (7.5%) HP:0000776
37 precocious puberty occasional (7.5%) HP:0000826
38 seizures occasional (7.5%) HP:0001250
39 obesity occasional (7.5%) HP:0001513
40 eeg abnormality occasional (7.5%) HP:0002353
41 abnormality of the hip bone occasional (7.5%) HP:0003272
42 short palm occasional (7.5%) HP:0004279
43 renal hypoplasia/aplasia occasional (7.5%) HP:0008678
44 hypoplasia of penis occasional (7.5%) HP:0008736
45 lip pit occasional (7.5%) HP:0100267
46 abnormal localization of kidney occasional (7.5%) HP:0100542
47 displacement of the external urethral meatus occasional (7.5%) HP:0100627
48 cryptorchidism HP:0000028
49 micropenis HP:0000054
50 ureteropelvic junction obstruction HP:0000074
51 abnormality of the teeth HP:0000164
52 cleft palate HP:0000175
53 high palate HP:0000218
54 microcephaly HP:0000252
55 posteriorly rotated ears HP:0000358
56 hearing impairment HP:0000365
57 macrotia HP:0000400
58 recurrent otitis media HP:0000403
59 wide nasal bridge HP:0000431
60 depressed nasal tip HP:0000437
61 strabismus HP:0000486
62 ptosis HP:0000508
63 sparse and thin eyebrow HP:0000535
64 blue sclerae HP:0000592
65 long palpebral fissure HP:0000637
66 congenital hypothyroidism HP:0000851
67 cafe-au-lait spot HP:0000957
68 hirsutism HP:0001007
69 prominent fingertip pads HP:0001212
70 intellectual disability HP:0001249
71 seizures HP:0001250
72 muscular hypotonia HP:0001252
73 global developmental delay HP:0001263
74 congenital hip dislocation HP:0001374
75 joint hypermobility HP:0001382
76 ventricular septal defect HP:0001629
77 atria septal defect HP:0001631
78 coarctation of aorta HP:0001680
79 hemolytic anemia HP:0001878
80 autoimmune thrombocytopenia HP:0001973
81 anal atresia HP:0002023
82 malabsorption HP:0002024
83 anal stenosis HP:0002025
84 recurrent aspiration pneumonia HP:0002100
85 highly arched eyebrow HP:0002553
86 intestinal malrotation HP:0002566
87 scoliosis HP:0002650
88 abnormality of the vertebrae HP:0003468
89 short stature HP:0004322
90 preauricular pit HP:0004467
91 crossed fused renal ectopia HP:0004736
92 anoperineal fistula HP:0005218
93 eversion of lateral third of lower eyelids HP:0007655
94 feeding difficulties in infancy HP:0008872
95 postnatal growth retardation HP:0008897
96 short 5th finger HP:0009237
97 premature thelarche 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):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Serotonin351050-67-95202
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
2
Risperidone482106266-06-25073
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
3
Dopamine367851-61-6, 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

Interventional clinical trials:

idNameStatusNCT IDPhase
1Actigraphic Analysis of Treatment ResponseCompletedNCT00723580
2French Kabuki Syndrome Network. Epidemiology, Management of Patients and Research by Array-CGHRecruitingNCT01314534
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 Make-Up Syndrome25
2 Kabuki Syndrome25 23 KDM6A

Anatomical Context for Kabuki Syndrome 1

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MalaCards organs/tissues related to Kabuki Syndrome 1:

34
Eye, Heart, Skin, Kidney, Bone

Animal Models for Kabuki Syndrome 1 or affiliated genes

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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:

68 (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 115)
id Gene Variation Type Significance SNP ID Assembly Location
1KMT2DNM_003482.3(KMT2D): c.2250_2276del27 (p.Arg755_Pro763del)deletionLikely pathogenicrs587778449GRCh38Chr 12, 49051407: 49051433
2KMT2DNM_003482.3(KMT2D): c.11263C> T (p.Gln3755Ter)single nucleotide variantPathogenicrs587783681GRCh37Chr 12, 49427225: 49427225
3KMT2DNM_003482.3(KMT2D): c.11290C> T (p.Gln3764Ter)single nucleotide variantPathogenicrs587783682GRCh37Chr 12, 49427198: 49427198
4KMT2DNM_003482.3(KMT2D): c.11386delC (p.Gln3796Argfs)deletionPathogenicrs587783683GRCh37Chr 12, 49427102: 49427102
5KMT2DNM_003482.3(KMT2D): c.12592C> T (p.Arg4198Ter)single nucleotide variantPathogenicrs587783685GRCh38Chr 12, 49032113: 49032113
6KMT2DNM_003482.3(KMT2D): c.12896delG (p.Gly4299Aspfs)deletionPathogenicrs587783686GRCh38Chr 12, 49031809: 49031809
7KMT2DNM_003482.3(KMT2D): c.12956_12957delGA (p.Arg4319Thrfs)deletionPathogenicrs587783687GRCh37Chr 12, 49425531: 49425532
8KMT2DNM_003482.3(KMT2D): c.12962C> A (p.Ser4321Ter)single nucleotide variantPathogenicrs587783688GRCh37Chr 12, 49425526: 49425526
9KMT2DNM_003482.3(KMT2D): c.1329_1332delACCT (p.Pro444Argfs)deletionPathogenicrs587783689GRCh37Chr 12, 49446134: 49446137
10KMT2DNM_003482.3(KMT2D): c.13450C> T (p.Arg4484Ter)single nucleotide variantPathogenicrs587783690GRCh37Chr 12, 49425038: 49425038
11KMT2DNM_003482.3(KMT2D): c.13518delC (p.Ser4507Alafs)deletionPathogenicrs587783691GRCh37Chr 12, 49424970: 49424970
12KMT2DNM_003482.3(KMT2D): c.13606C> T (p.Arg4536Ter)single nucleotide variantPathogenicrs587783692GRCh37Chr 12, 49424741: 49424741
13KMT2DNM_003482.3(KMT2D): c.13996_13997delAG (p.Arg4666Glyfs)deletionPathogenicrs587783693GRCh37Chr 12, 49424065: 49424066
14KMT2DNM_003482.3(KMT2D): c.15061C> T (p.Arg5021Ter)single nucleotide variantPathogenicrs587783695GRCh37Chr 12, 49420688: 49420688
15KMT2DNM_003482.3(KMT2D): c.15195G> A (p.Trp5065Ter)single nucleotide variantPathogenicrs587783696GRCh37Chr 12, 49420554: 49420554
16KMT2DNM_003482.3(KMT2D): c.15791G> A (p.Trp5264Ter)single nucleotide variantPathogenicrs587783697GRCh37Chr 12, 49418723: 49418723
17KMT2DNM_003482.3(KMT2D): c.15844C> T (p.Arg5282Ter)single nucleotide variantPathogenicrs587783698GRCh38Chr 12, 49024887: 49024887
18KMT2DNM_003482.3(KMT2D): c.15943C> T (p.Gln5315Ter)single nucleotide variantPathogenicrs587783699GRCh38Chr 12, 49024687: 49024687
19KMT2DNM_003482.3(KMT2D): c.16411A> T (p.Arg5471Trp)single nucleotide variantLikely pathogenicrs587783700GRCh38Chr 12, 49022281: 49022281
20KMT2DNM_003482.3(KMT2D): c.16413G> T (p.Arg5471Ser)single nucleotide variantLikely pathogenicrs587783702GRCh37Chr 12, 49415934: 49415934
21KMT2DNM_003482.3(KMT2D): c.16438_16441delAACT (p.Asn5480Valfs)deletionPathogenicrs587783703GRCh37Chr 12, 49415906: 49415909
22KMT2DNM_003482.3(KMT2D): c.16489_16491delATC (p.Ile5497del)deletionLikely pathogenicrs587783704GRCh37Chr 12, 49415856: 49415858
23KMT2DNM_003482.3(KMT2D): c.1813G> T (p.Glu605Ter)single nucleotide variantPathogenicrs587783705GRCh37Chr 12, 49445653: 49445653
24KMT2DNM_003482.3(KMT2D): c.256G> T (p.Glu86Ter)single nucleotide variantPathogenicrs587783708GRCh37Chr 12, 49448455: 49448455
25KMT2DNM_003482.3(KMT2D): c.3121C> T (p.Gln1041Ter)single nucleotide variantPathogenicrs587783711GRCh37Chr 12, 49444250: 49444250
26KMT2DNM_003482.3(KMT2D): c.3553C> T (p.Gln1185Ter)single nucleotide variantPathogenicrs587783712GRCh37Chr 12, 49443818: 49443818
27KMT2DNM_003482.3(KMT2D): c.3695delC (p.Pro1232Argfs)deletionPathogenicrs587783713GRCh37Chr 12, 49443676: 49443676
28KMT2DNM_003482.3(KMT2D): c.400+1G> Csingle nucleotide variantPathogenicrs587783714GRCh37Chr 12, 49448310: 49448310
29KMT2DNM_003482.3(KMT2D): c.4221delC (p.Cys1408Valfs)deletionPathogenicrs587783715GRCh37Chr 12, 49441763: 49441763
30KMT2DNM_003482.3(KMT2D): c.4421G> A (p.Cys1474Tyr)single nucleotide variantLikely pathogenicrs587783718GRCh38Chr 12, 49046422: 49046422
31KMT2DNM_003482.3(KMT2D): c.4739delC (p.Pro1580Glnfs)deletionPathogenicrs587783719GRCh38Chr 12, 49045922: 49045922
32KMT2DNM_003482.3(KMT2D): c.6086delC (p.Pro2029Leufs)deletionPathogenicrs587783723GRCh37Chr 12, 49435895: 49435895
33KMT2DNM_003482.3(KMT2D): c.6126C> A (p.Cys2042Ter)single nucleotide variantPathogenicrs556669370GRCh37Chr 12, 49435757: 49435757
34KMT2DNM_003482.3(KMT2D): c.6670_6674delGGGGA (p.Gly2224Ilefs)deletionPathogenicrs587783725GRCh37Chr 12, 49434879: 49434883
35KMT2DNM_003482.3(KMT2D): c.8053C> T (p.Arg2685Ter)single nucleotide variantPathogenicrs587783727GRCh38Chr 12, 49039611: 49039611
36KMT2DNM_003482.3(KMT2D): c.8171_8175delCCAGC (p.Pro2724Glnfs)deletionPathogenicrs587783728GRCh38Chr 12, 49039489: 49039493
37KMT2DNM_003482.3(KMT2D): c.8743C> T (p.Arg2915Ter)single nucleotide variantLikely pathogenic, Pathogenicrs587783729GRCh37Chr 12, 49432396: 49432396
38KMT2DNM_003482.3(KMT2D): c.15256C> T (p.Arg5086Ter)single nucleotide variantPathogenicrs727503979GRCh38Chr 12, 49026710: 49026710
39KMT2DNM_003482.3(KMT2D): c.8488C> T (p.Arg2830Ter)single nucleotide variantPathogenicrs727503983GRCh38Chr 12, 49038868: 49038868
40KMT2DNM_003482.3(KMT2D): c.4009G> T (p.Glu1337Ter)single nucleotide variantPathogenicrs727503986GRCh38Chr 12, 49049116: 49049116
41KMT2DNM_003482.3(KMT2D): c.3754C> T (p.Arg1252Ter)single nucleotide variantPathogenicrs727503987GRCh38Chr 12, 49049834: 49049834
42KMT2DNM_003482.3(KMT2D): c.2797+1G> Asingle nucleotide variantPathogenicrs727503988GRCh37Chr 12, 49444668: 49444668
43KMT2DNM_003482.3(KMT2D): c.1814_1815delAG (p.Glu605Valfs)deletionPathogenicrs727503989GRCh37Chr 12, 49445651: 49445652
44KMT2DNM_003482.3(KMT2D): c.133delA (p.Ser45Valfs)deletionPathogenicrs727503990GRCh37Chr 12, 49448726: 49448726
45KMT2DNM_003482.3(KMT2D): c.12688C> T (p.Gln4230Ter)single nucleotide variantLikely pathogenicrs793888511GRCh38Chr 12, 49032017: 49032017
46KMT2DNM_003482.3(KMT2D): c.9961C> T (p.Arg3321Ter)single nucleotide variantLikely pathogenicrs793888512GRCh38Chr 12, 49037395: 49037395
47KMT2DNM_003482.3(KMT2D): c.14659G> T (p.Glu4887Ter)single nucleotide variantLikely pathogenicrs793888513GRCh37Chr 12, 49421090: 49421090
48KMT2DNM_003482.3(KMT2D): c.15235_15238delAATG (p.Asn5079Trpfs)deletionLikely pathogenicrs793888514GRCh37Chr 12, 49420511: 49420514
49KMT2DNM_003482.3(KMT2D): c.7481dupT (p.Ala2496Serfs)duplicationLikely pathogenicrs35584294GRCh38Chr 12, 49040289: 49040289
50KMT2DNM_003482.3(KMT2D): c.16413-1G> Csingle nucleotide variantLikely pathogenicrs793888515GRCh38Chr 12, 49022152: 49022152
51KMT2DNM_003482.3(KMT2D): c.11796_11813del18 (p.Gln3934_Gln3939del)deletionLikely pathogenicrs793888516GRCh37Chr 12, 49426675: 49426692
52KMT2DNM_003482.3(KMT2D): c.14732C> T (p.Pro4911Leu)single nucleotide variantLikely pathogenicrs183347186GRCh38Chr 12, 49027234: 49027234
53KMT2DNM_003482.3(KMT2D): c.2747_2748delCGinsAGCTGAGCCATCC (p.Pro916Glnfs)indelPathogenicrs797044630GRCh37Chr 12, 49444718: 49444719
54KMT2DNM_003482.3(KMT2D): c.3582dupC (p.Thr1195Hisfs)duplicationPathogenicrs796065328GRCh37Chr 12, 49443789: 49443789
55KMT2DNM_003482.3(KMT2D): c.4168dupG (p.Ala1390Glyfs)duplicationPathogenicrs756471180GRCh37Chr 12, 49441816: 49441816
56KMT2DNM_003482.3(KMT2D): c.4265G> A (p.Trp1422Ter)single nucleotide variantPathogenicrs794727143GRCh37Chr 12, 49440545: 49440545
57KMT2DNM_003482.3(KMT2D): c.4485C> G (p.Tyr1495Ter)single nucleotide variantPathogenicrs574622908GRCh37Chr 12, 49440141: 49440141
58KMT2DNM_003482.3(KMT2D): c.5131A> T (p.Lys1711Ter)single nucleotide variantPathogenicrs794727342GRCh37Chr 12, 49438040: 49438040
59KMT2DNM_003482.3(KMT2D): c.5423delG (p.Gly1808Glufs)deletionPathogenicrs794727379GRCh37Chr 12, 49437462: 49437462
60KMT2DNM_003482.3(KMT2D): c.5677C> T (p.Gln1893Ter)single nucleotide variantPathogenicrs794727420GRCh37Chr 12, 49436629: 49436629
61KMT2DNM_003482.3(KMT2D): c.177-12_177-2delGTGTGTCCACAdeletionPathogenicrs794727497GRCh37Chr 12, 49448536: 49448546
62KMT2DNM_003482.3(KMT2D): c.7375_7376delTC (p.Ser2459Profs)deletionPathogenicrs794727548GRCh37Chr 12, 49434177: 49434178
63KMT2DNM_003482.3(KMT2D): c.7903C> T (p.Arg2635Ter)single nucleotide variantPathogenicrs794727549GRCh37Chr 12, 49433650: 49433650
64KMT2DNM_003482.3(KMT2D): c.11939delA (p.Gln3980Argfs)deletionPathogenicrs794727610GRCh37Chr 12, 49426549: 49426549
65KMT2DNM_003482.3(KMT2D): c.12481delG (p.Glu4161Serfs)deletionPathogenicrs794727611GRCh37Chr 12, 49426007: 49426007
66KMT2DNM_003482.3(KMT2D): c.13780dupG (p.Ala4594Glyfs)duplicationPathogenicrs797044740GRCh37Chr 12, 49424443: 49424443
67KMT2DNM_003482.3(KMT2D): c.14885dupA (p.Pro4963Alafs)duplicationPathogenicrs797044744GRCh37Chr 12, 49420864: 49420864
68KMT2DNM_003482.3(KMT2D): c.15172delG (p.Val5058Cysfs)deletionPathogenicrs794727689GRCh37Chr 12, 49420577: 49420577
69KMT2DNM_003482.3(KMT2D): c.16412+1G> Tsingle nucleotide variantPathogenicrs794727752GRCh37Chr 12, 49416062: 49416062
70KMT2DNM_003482.3(KMT2D): c.4237-2A> Csingle nucleotide variantPathogenicrs797045001GRCh38Chr 12, 49046792: 49046792
71KMT2DNM_003482.3(KMT2D): c.11845C> T (p.Gln3949Ter)single nucleotide variantPathogenicrs797045658GRCh37Chr 12, 49426643: 49426643
72KMT2DNM_003482.3(KMT2D): c.15079C> T (p.Arg5027Ter)single nucleotide variantPathogenicrs797045659GRCh38Chr 12, 49026887: 49026887
73KMT2DNM_003482.3(KMT2D): c.2954_2955insT (p.Pro986Thrfs)insertionPathogenicrs797045660GRCh37Chr 12, 49444416: 49444417
74KMT2DNM_003482.3(KMT2D): c.303delG (p.Ser102Alafs)deletionPathogenicrs797045661GRCh37Chr 12, 49448408: 49448408
75KMT2DNM_003482.3(KMT2D): c.3585dupA (p.Pro1196Thrfs)duplicationPathogenicrs797045662GRCh37Chr 12, 49443786: 49443786
76KMT2DNM_003482.3(KMT2D): c.3591delC (p.Thr1198Leufs)deletionPathogenicrs797045663GRCh37Chr 12, 49443780: 49443780
77KMT2DNM_003482.3(KMT2D): c.4981dupG (p.Glu1661Glyfs)duplicationPathogenicrs797045667GRCh38Chr 12, 49044505: 49044505
78KMT2DNM_003482.3(KMT2D): c.6171dupA (p.Ala2058Serfs)duplicationPathogenicrs797045668GRCh37Chr 12, 49435712: 49435712
79KMT2DNM_003482.3(KMT2D): c.6172delG (p.Ala2058Profs)deletionPathogenicrs797045669GRCh38Chr 12, 49041928: 49041928
80KMT2DNM_003482.3(KMT2D): c.836dupG (p.Cys279Trpfs)duplicationPathogenicrs797045670GRCh37Chr 12, 49447262: 49447262
81KMT2DNM_003482.3(KMT2D): c.8445_8475dup31 (p.Ala2826Thrfs)duplicationPathogenicrs797045671GRCh37Chr 12, 49432664: 49432694
82KMT2DNM_003482.3(KMT2D): c.9540delT (p.Glu3181Argfs)deletionPathogenicrs797045672GRCh38Chr 12, 49037816: 49037816
83KMT2DNM_003482.3(KMT2D): c.11275C> T (p.Gln3759Ter)single nucleotide variantPathogenicrs863224890GRCh38Chr 12, 49033430: 49033430
84KMT2DNM_003482.3(KMT2D): c.15536G> A (p.Arg5179His)single nucleotide variantPathogenicrs267607237GRCh37Chr 12, 49420213: 49420213
85KMT2DNM_003482.3(KMT2D): c.13579A> T (p.Lys4527Ter)single nucleotide variantPathogenicrs267607240GRCh37Chr 12, 49424768: 49424768
86KMT2DNM_003482.3(KMT2D): c.16360C> T (p.Arg5454Ter)single nucleotide variantPathogenicrs267607239GRCh37Chr 12, 49416115: 49416115
87KMT2DNM_003482.3(KMT2D): c.16391C> T (p.Thr5464Met)single nucleotide variantPathogenicrs267607238GRCh37Chr 12, 49416084: 49416084
88KMT2DNM_003482.3(KMT2D): c.10623_10629delTCTGTGTinsCGCAAGTCACG (p.Leu3542Alafs)indelPathogenicrs398123699GRCh37Chr 12, 49427961: 49427967
89KMT2DNM_003482.3(KMT2D): c.10740G> A (p.Gln3580=)single nucleotide variantLikely pathogenicrs398123700GRCh37Chr 12, 49427850: 49427850
90KMT2DNM_003482.3(KMT2D): c.10819C> T (p.Gln3607Ter)single nucleotide variantPathogenicrs398123701GRCh37Chr 12, 49427669: 49427669
91KMT2DNM_003482.3(KMT2D): c.10834C> T (p.Gln3612Ter)single nucleotide variantPathogenicrs398123702GRCh37Chr 12, 49427654: 49427654
92KMT2DNM_003482.3(KMT2D): c.11149C> T (p.Gln3717Ter)single nucleotide variantPathogenicrs398123704GRCh37Chr 12, 49427339: 49427339
93KMT2DNM_003482.3(KMT2D): c.11201_11202delTG (p.Leu3734Profs)deletionPathogenicrs398123706GRCh37Chr 12, 49427286: 49427287
94KMT2DNM_003482.3(KMT2D): c.11692C> T (p.Gln3898Ter)single nucleotide variantPathogenicrs398123708GRCh37Chr 12, 49426796: 49426796
95KMT2DNM_003482.3(KMT2D): c.12406C> T (p.Gln4136Ter)single nucleotide variantPathogenicrs398123711GRCh37Chr 12, 49426082: 49426082
96KMT2DNM_003482.3(KMT2D): c.12430C> T (p.Gln4144Ter)single nucleotide variantPathogenicrs398123712GRCh37Chr 12, 49426058: 49426058
97KMT2DNM_003482.3(KMT2D): c.1300dupC (p.Leu434Profs)duplicationPathogenicrs398123715GRCh37Chr 12, 49446166: 49446166
98KMT2DNM_003482.3(KMT2D): c.13032delC (p.Lys4345Asnfs)deletionPathogenicrs398123716GRCh37Chr 12, 49425456: 49425456
99KMT2DNM_003482.3(KMT2D): c.14580dupT (p.Asp4861Terfs)duplicationPathogenicrs398123720GRCh37Chr 12, 49421649: 49421649
100KMT2DNM_003482.3(KMT2D): c.14710C> T (p.Arg4904Ter)single nucleotide variantPathogenicrs398123721GRCh37Chr 12, 49421039: 49421039
101KMT2DNM_003482.3(KMT2D): c.15030dupA (p.Glu5011Argfs)duplicationPathogenicrs398123722GRCh37Chr 12, 49420719: 49420719
102KMT2DNM_003482.3(KMT2D): c.15104G> C (p.Cys5035Ser)single nucleotide variantLikely pathogenicrs398123723GRCh37Chr 12, 49420645: 49420645
103KMT2DNM_003482.3(KMT2D): c.15142C> T (p.Arg5048Cys)single nucleotide variantLikely pathogenicrs398123724GRCh37Chr 12, 49420607: 49420607
104KMT2DNM_003482.3(KMT2D): c.15641G> A (p.Arg5214His)single nucleotide variantLikely pathogenicrs398123729GRCh37Chr 12, 49420108: 49420108
105KMT2DNM_003482.3(KMT2D): c.15953_15956delTATT (p.Leu5318Serfs)deletionPathogenicrs398123732GRCh37Chr 12, 49418457: 49418460
106KMT2DNM_003482.3(KMT2D): c.16109delG (p.Gly5370Alafs)deletionPathogenicrs398123733GRCh37Chr 12, 49416602: 49416602
107KMT2DNM_003482.3(KMT2D): c.16306_16322del17insC (p.Ala5436Glnfs)indelPathogenicrs398123735GRCh37Chr 12, 49416389: 49416405
108KMT2DNM_003482.3(KMT2D): c.3532C> T (p.Gln1178Ter)single nucleotide variantPathogenicrs398123741GRCh37Chr 12, 49443839: 49443839
109KMT2DNM_003482.3(KMT2D): c.3834_3846delTATCAGCGGAGGC (p.Ile1279Lysfs)deletionPathogenicrs398123743GRCh37Chr 12, 49443525: 49443537
110KMT2DNM_003482.3(KMT2D): c.4135_4136delAT (p.Met1379Valfs)deletionPathogenicrs398123744GRCh37Chr 12, 49441848: 49441849
111KMT2DNM_003482.3(KMT2D): c.5645-2A> Gsingle nucleotide variantPathogenicrs398123750GRCh37Chr 12, 49436663: 49436663
112KMT2DNM_003482.3(KMT2D): c.5908_5915delGACAGCCC (p.Asp1970Leufs)deletionLikely pathogenic, Pathogenicrs398123751GRCh37Chr 12, 49436066: 49436073
113KMT2DNM_003482.3(KMT2D): c.6595delT (p.Tyr2199Ilefs)deletionLikely pathogenic, Pathogenicrs398123753GRCh37Chr 12, 49434958: 49434958
114KMT2DNM_003482.3(KMT2D): c.7066C> T (p.Gln2356Ter)single nucleotide variantPathogenicrs398123757GRCh37Chr 12, 49434487: 49434487
115KMT2DNM_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
210.0FGFR3, GFER, RAP1A, 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
1MLL3/4 complexGO:004466610.1ASH2L, KDM6A, KMT2D
2histone methyltransferase complexGO:00350979.8ASH2L, KDM6A, KMT2D

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1regulation of cell junction assemblyGO:190188810.7RAP1A, RAP1B
2establishment of endothelial barrierGO:006102810.5RAP1A, RAP1B
3Rap protein signal transductionGO:003248610.5RAP1A, RAP1B
4microvillus assemblyGO:003003310.4RAP1A, RAP1B
5negative regulation of synaptic vesicle exocytosisGO:200030110.2RAP1A, RAP1B
6response to carbohydrateGO:000974310.1RAP1A, RAP1B
7histone H3-K4 methylationGO:005156810.1ASH2L, KDM6A, KMT2D

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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet