MCID: KBK002
MIFTS: 47

Kabuki Syndrome 1 malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Fetal diseases categories

Aliases & Classifications for Kabuki Syndrome 1

About this section
Sources:
49OMIM, 11diseasecard, 67UniProtKB/Swiss-Prot, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 51Orphanet, 24GTR, 37MESH via Orphanet, 66UMLS via Orphanet, 28ICD10 via Orphanet, 34MedGen, 36MeSH
See all sources

Aliases & Descriptions for Kabuki Syndrome 1:

Name: Kabuki Syndrome 1 49 11 67
Niikawa-Kuroki Syndrome 21 45 22 23 51 67
Kabuki Syndrome 21 45 22 23 51 67
Kabuki Make-Up Syndrome 21 23 51 67
Kabuki Make Up Syndrome 45 22 24
 
Kms 45 23 67
Kabuki Makeup Syndrome 23
Kabuk1 67
Nks 45


Classifications:



Characteristics (Orphanet epidemiological data):

51
niikawa-kuroki syndrome:
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal; Age of death: any age


External Ids:

OMIM49 147920
Orphanet51 2322
MESH via Orphanet37 C537705
UMLS via Orphanet66 C0796004
ICD10 via Orphanet28 Q87.0
MedGen34 C0796004
MeSH36 D000015

Summaries for Kabuki Syndrome 1

About this section
OMIM:49 Kabuki syndrome is a congenital mental retardation syndrome with additional features, including postnatal dwarfism, a... (147920) more...

MalaCards based summary: Kabuki Syndrome 1, also known as niikawa-kuroki syndrome, is related to leukemia and burkitt 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 (K)-Specific Methyltransferase 2D), and among its related pathways is Chromatin organization. Affiliated tissues include eye, heart and kidney.

NIH Rare Diseases:45 Kabuki syndrome is a condition, present at birth, which affects many parts of the body. affected individuals have facial features that resemble the make-up worn by actors of kabuki, a japanese theatrical form. facial characteristics of kabuki syndrome may include long eye openings that slant upwards, arched eyebrows, prominent ears, and corners of the mouth that turn downwards. this syndrome typically causes mild to moderate intellectual disability as well as problems involving the heart, skeleton, teeth, and immune system. kabuki syndrome is inherited in an autosomal dominant pattern. most causes are caused by mutations in the mll2 gene. last updated: 9/8/2011

Genetics Home Reference:23 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.

UniProtKB/Swiss-Prot:67 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:68 Kabuki syndrome, also previously known as Kabuki makeup syndrome, KMS or Niikawa–Kuroki Syndrome, is a... more...

GeneReviews summary for kabuki

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 647)
idRelated DiseaseScoreTop Affiliating Genes
1leukemia10.8
2burkitt lymphoma10.6
3lymphosarcoma10.6
4adult lymphoma10.6
5natural killer cell leukemia10.6
6lymphatic system disease10.6
7lymphatic system cancer10.6
8lymphatic neoplasm10.6
9primary malignant lymphoma10.6
10hypersensitivity reaction type iv disease10.6
11lymphoma, non-hodgkin10.6
12kabuki syndrome 210.6
13acute leukemia10.5
14melanoma10.5
15cell type cancer10.5
16myeloid leukemia10.5
17nervous system cancer10.5
18hiv-110.5
19hematopoietic stem cell transplantation10.5
20endotheliitis10.5
21peripheral t-cell lymphoma10.5
22peripheral nervous system neoplasm10.5
23extranodal nasal nk/t cell lymphoma10.5
24central nervous system cancer10.5
25myeloma10.4
26hepatitis c10.4
27acute non lymphoblastic leukemia10.4
28hardikar syndrome10.4
29mondini dysplasia10.4
30multiple myeloma10.4
31mucolipidosis ii alpha/beta10.4
32chronic lymphocytic leukemia10.4
33chronic monocytic leukemia10.4
34lymphoblastic leukemia10.4
35nose disease10.4
36neuroblastoma10.4
37leukemia, acute myeloid10.4
38severe combined immunodeficiency, b cell-negative10.4
39b-cell lymphomas10.4
40lymphoid leukemia10.4
41severe combined immunodeficiency10.4
42kdm6a-related kabuki syndrome10.4
43kmt2d-related kabuki syndrome10.4
44aplastic anemia10.3
45hematologic cancer10.3
46central nervous system lymphoma10.3
47vein disease10.3
48ewing sarcoma10.3
49bone marrow cancer10.3
50blastic plasmacytoid dendritic cell10.3

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:

 51 (show all 55)
  • high arched eyebrows
  • lateral thinning of eyebrows
  • ectropion/entropion/eyelid eversion
  • long/thick/curved lashes/trichomegaly/polytrichia
  • short columella/depressed nasal tip
  • prominent/bat ears
  • long/large ear
  • abnormal vertebral size/shape
  • short hand/brachydactyly
  • abnormal dermatoglyphics
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • autosomal dominant inheritance
  • microcephaly
  • blue sclerae
  • strabismus/squint
  • ptosis
  • lateral cleft lip/gingival cleft/paramedian nasal cleft
  • high vaulted/narrow palate
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • tooth shape anomaly
  • complete/partial microdontia
  • anodontia/oligodontia/hypodontia
  • abnormal dentition/dental position/implantation/unerupted/dental ankylosis
  • sensorineural deafness/hearing loss
  • conductive deafness/hearing loss
  • scoliosis
  • hypoplastic aorta/coarctation/stenosis/anomaly/aortic arch interruption
  • cardiac septal defect
  • dilated cerebral ventricles without hydrocephaly
  • cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy
  • hydrocephaly
  • hypotonia
  • hyperextensible joints/articular hyperlaxity
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • short stature/dwarfism/nanism
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • expressionless face/amimia
  • microcornea
  • retinoschisis/retinal/chorioretinal coloboma
  • nystagmus
  • lip pits/fistulae
  • preauricular/branchial tags/appendages
  • small hand/acromicria
  • diaphragmatic hernia/defect/agenesis
  • agenesis/hypoplasia/aplasia of kidneys
  • ectopic/horseshoe/fused kidneys
  • megaureter/hydronephrosis/pyeloureteral junction syndrome
  • micropenis/small penis/agenesis
  • hypospadias/epispadias/bent penis
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • precocious puberty
  • eeg anomalies
  • seizures/epilepsy/absences/spasms/status epilepticus
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • generalized obesity

HPO human phenotypes related to Kabuki Syndrome 1:

(show all 98)
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 autosomal dominant inheritance HP:0000006
49 cryptorchidism HP:0000028
50 micropenis HP:0000054
51 ureteropelvic junction obstruction HP:0000074
52 abnormality of the teeth HP:0000164
53 cleft palate HP:0000175
54 high palate HP:0000218
55 microcephaly HP:0000252
56 posteriorly rotated ears HP:0000358
57 hearing impairment HP:0000365
58 macrotia HP:0000400
59 recurrent otitis media HP:0000403
60 wide nasal bridge HP:0000431
61 depressed nasal tip HP:0000437
62 strabismus HP:0000486
63 ptosis HP:0000508
64 sparse eyebrow HP:0000535
65 blue sclerae HP:0000592
66 long palpebral fissure HP:0000637
67 congenital hypothyroidism HP:0000851
68 cafe-au-lait spot HP:0000957
69 hirsutism HP:0001007
70 prominent fingertip pads HP:0001212
71 intellectual disability HP:0001249
72 seizures HP:0001250
73 muscular hypotonia HP:0001252
74 global developmental delay HP:0001263
75 congenital hip dislocation HP:0001374
76 joint hypermobility HP:0001382
77 ventricular septal defect HP:0001629
78 atria septal defect HP:0001631
79 coarctation of aorta HP:0001680
80 hemolytic anemia HP:0001878
81 autoimmune thrombocytopenia HP:0001973
82 anal atresia HP:0002023
83 malabsorption HP:0002024
84 anal stenosis HP:0002025
85 recurrent aspiration pneumonia HP:0002100
86 highly arched eyebrow HP:0002553
87 intestinal malrotation HP:0002566
88 scoliosis HP:0002650
89 abnormality of the vertebrae HP:0003468
90 short stature HP:0004322
91 preauricular pit HP:0004467
92 crossed fused renal ectopia HP:0004736
93 anoperineal fistula HP:0005218
94 eversion of lateral third of lower eyelids HP:0007655
95 feeding difficulties in infancy HP:0008872
96 postnatal growth retardation HP:0008897
97 short 5th finger HP:0009237
98 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
Dopamineapproved281462-31-7, 51-61-6681
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 Hcl
Dopamine 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
2
Risperidoneapproved, investigational579106266-06-25073
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
Risperdal M-tab
Risperidal
Risperidal M-Tab
Risperidona
Risperidona [Spanish]
Risperidone
Risperidone (JAN/USAN/INN)
Risperidone (RIS)
Risperidone M-tab
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
Serotonin285350-67-95202
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

Interventional clinical trials:

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

Search NIH Clinical Center for Kabuki Syndrome 1

Genetic Tests for Kabuki Syndrome 1

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Genetic tests related to Kabuki Syndrome 1:

id Genetic test Affiliating Genes
1 Kabuki Syndrome22 KDM6A
2 Kabuki Make-Up Syndrome24

Anatomical Context for Kabuki Syndrome 1

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MalaCards organs/tissues related to Kabuki Syndrome 1:

33
Eye, Heart, Kidney, Testes, Skin, 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:

67
id Symbol AA change Variation ID SNP ID
1KMT2Dp.Cys5109PheVAR_063830
2KMT2Dp.Arg5179HisVAR_063831
3KMT2Dp.Arg5214HisVAR_063832
4KMT2Dp.Arg5340LeuVAR_063833
5KMT2Dp.Thr5464MetVAR_063834
6KMT2Dp.Tyr5210CysVAR_064378
7KMT2Dp.Gly5428AspVAR_064379

Clinvar genetic disease variations for Kabuki Syndrome 1:

5 (show all 129)
id Gene Variation Type Significance SNP ID Assembly Location
1KMT2DNM_003482.3(KMT2D): c.2250_2276del27 (p.Arg755_Pro763del)deletionLikely pathogenicrs587778449GRCh37Chr 12, 49445190: 49445216
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 variantPathogenicrs587783685GRCh37Chr 12, 49425896: 49425896
6KMT2DNM_003482.3(KMT2D): c.12896delG (p.Gly4299Aspfs)deletionPathogenicrs587783686GRCh37Chr 12, 49425592: 49425592
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 variantPathogenicrs587783699GRCh37Chr 12, 49418470: 49418470
19KMT2DNM_003482.3(KMT2D): c.16411A> T (p.Arg5471Trp)single nucleotide variantLikely pathogenicrs587783700GRCh37Chr 12, 49416064: 49416064
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 pathogenicrs587783718GRCh37Chr 12, 49440205: 49440205
31KMT2DNM_003482.3(KMT2D): c.4739delC (p.Pro1580Glnfs)deletionPathogenicrs587783719GRCh37Chr 12, 49439705: 49439705
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 variantPathogenicrs587783727GRCh37Chr 12, 49433394: 49433394
36KMT2DNM_003482.3(KMT2D): c.8171_8175delCCAGC (p.Pro2724Glnfs)deletionPathogenicrs587783728GRCh37Chr 12, 49433272: 49433276
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 variantPathogenicrs727503979GRCh37Chr 12, 49420493: 49420493
39KMT2DNM_003482.3(KMT2D): c.8488C> T (p.Arg2830Ter)single nucleotide variantPathogenicrs727503983GRCh37Chr 12, 49432651: 49432651
40KMT2DNM_003482.3(KMT2D): c.4009G> T (p.Glu1337Ter)single nucleotide variantPathogenicrs727503986GRCh37Chr 12, 49442899: 49442899
41KMT2DNM_003482.3(KMT2D): c.3754C> T (p.Arg1252Ter)single nucleotide variantPathogenicrs727503987GRCh37Chr 12, 49443617: 49443617
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
45more than 10NC_000023.10: g.(?_43479884)_(46741003_?)deldeletionLikely pathogenicGRCh37Chr X, 43479884: 46741003
46NC_000023.10: g.(?_43479884)_(45501849_?)deldeletionLikely pathogenicGRCh37Chr X, 43479884: 45501849
47KDM6ANM_021140.3(KDM6A): c.752G> A (p.Trp251Ter)single nucleotide variantLikely pathogenicrs793888509GRCh38Chr X, 45053832: 45053832
48KDM6ANM_021140.3(KDM6A): c.3736+2T> Csingle nucleotide variantLikely pathogenicrs793888510GRCh37Chr X, 44949177: 44949177
49KMT2DNM_003482.3(KMT2D): c.12688C> T (p.Gln4230Ter)single nucleotide variantLikely pathogenicrs793888511GRCh38Chr 12, 49032017: 49032017
50KMT2DNM_003482.3(KMT2D): c.9961C> T (p.Arg3321Ter)single nucleotide variantLikely pathogenicrs793888512GRCh38Chr 12, 49037395: 49037395
51KMT2DNM_003482.3(KMT2D): c.14659G> T (p.Glu4887Ter)single nucleotide variantLikely pathogenicrs793888513GRCh37Chr 12, 49421090: 49421090
52KMT2DNM_003482.3(KMT2D): c.15235_15238delAATG (p.Asn5079Trpfs)deletionLikely pathogenicrs793888514GRCh37Chr 12, 49420511: 49420514
53KMT2DNM_003482.3(KMT2D): c.7481dupT (p.Ala2496Serfs)duplicationLikely pathogenicrs35584294GRCh38Chr 12, 49040289: 49040289
54KMT2DNM_003482.3(KMT2D): c.16413-1G> Csingle nucleotide variantLikely pathogenicrs793888515GRCh38Chr 12, 49022152: 49022152
55KMT2DNM_003482.3(KMT2D): c.11796_11813del18 (p.Gln3934_Gln3939del)deletionLikely pathogenicrs793888516GRCh37Chr 12, 49426675: 49426692
56KMT2DNM_003482.3(KMT2D): c.14732C> T (p.Pro4911Leu)single nucleotide variantLikely pathogenicrs183347186GRCh38Chr 12, 49027234: 49027234
57KDM6ANM_021140.3(KDM6A): c.2515_2518delAACA (p.Asn839Valfs)deletionPathogenicrs786205676GRCh38Chr X, 45070170: 45070173
58KMT2DNM_003482.3(KMT2D): c.2747_2748delCGinsAGCTGAGCCATCC (p.Pro916Glnfs)indelPathogenicrs797044630GRCh37Chr 12, 49444718: 49444719
59KMT2DNM_003482.3(KMT2D): c.3582dupC (p.Thr1195Hisfs)duplicationPathogenicrs796065328GRCh37Chr 12, 49443789: 49443789
60KMT2DNM_003482.3(KMT2D): c.4168dupG (p.Ala1390Glyfs)duplicationPathogenicrs756471180GRCh37Chr 12, 49441816: 49441816
61KMT2DNM_003482.3(KMT2D): c.4265G> A (p.Trp1422Ter)single nucleotide variantPathogenicrs794727143GRCh37Chr 12, 49440545: 49440545
62KMT2DNM_003482.3(KMT2D): c.4485C> G (p.Tyr1495Ter)single nucleotide variantPathogenicrs574622908GRCh37Chr 12, 49440141: 49440141
63KMT2DNM_003482.3(KMT2D): c.5131A> T (p.Lys1711Ter)single nucleotide variantPathogenicrs794727342GRCh37Chr 12, 49438040: 49438040
64KMT2DNM_003482.3(KMT2D): c.5423delG (p.Gly1808Glufs)deletionPathogenicrs794727379GRCh37Chr 12, 49437462: 49437462
65KMT2DNM_003482.3(KMT2D): c.5677C> T (p.Gln1893Ter)single nucleotide variantPathogenicrs794727420GRCh37Chr 12, 49436629: 49436629
66KMT2DNM_003482.3(KMT2D): c.177-12_177-2delGTGTGTCCACAdeletionPathogenicrs794727497GRCh37Chr 12, 49448536: 49448546
67KMT2DNM_003482.3(KMT2D): c.7375_7376delTC (p.Ser2459Profs)deletionPathogenicrs794727548GRCh37Chr 12, 49434177: 49434178
68KMT2DNM_003482.3(KMT2D): c.7903C> T (p.Arg2635Ter)single nucleotide variantPathogenicrs794727549GRCh37Chr 12, 49433650: 49433650
69KMT2DNM_003482.3(KMT2D): c.11939delA (p.Gln3980Argfs)deletionPathogenicrs794727610GRCh37Chr 12, 49426549: 49426549
70KMT2DNM_003482.3(KMT2D): c.12481delG (p.Glu4161Serfs)deletionPathogenicrs794727611GRCh37Chr 12, 49426007: 49426007
71KMT2DNM_003482.3(KMT2D): c.13780dupG (p.Ala4594Glyfs)duplicationPathogenicrs797044740GRCh37Chr 12, 49424443: 49424443
72KMT2DNM_003482.3(KMT2D): c.14885dupA (p.Pro4963Alafs)duplicationPathogenicrs797044744GRCh37Chr 12, 49420864: 49420864
73KMT2DNM_003482.3(KMT2D): c.15172delG (p.Val5058Cysfs)deletionPathogenicrs794727689GRCh37Chr 12, 49420577: 49420577
74KMT2DNM_003482.3(KMT2D): c.16412+1G> Tsingle nucleotide variantPathogenicrs794727752GRCh37Chr 12, 49416062: 49416062
75KMT2DNM_003482.3(KMT2D): c.4237-2A> Csingle nucleotide variantPathogenicrs797045001GRCh38Chr 12, 49046792: 49046792
76KDM6ANM_021140.3(KDM6A): c.1543delG (p.Val515Leufs)deletionPathogenicrs797045642GRCh37Chr X, 44922682: 44922682
77KDM6ANM_021140.3(KDM6A): c.2832+2dupduplicationLikely pathogenicrs797045643GRCh38Chr X, 45076828: 45076828
78KDM6ANM_021140.3(KDM6A): c.3635A> G (p.Gln1212Arg)single nucleotide variantLikely pathogenicrs797045644GRCh38Chr X, 45089829: 45089829
79KMT2DNM_003482.3(KMT2D): c.11845C> T (p.Gln3949Ter)single nucleotide variantPathogenicrs797045658GRCh37Chr 12, 49426643: 49426643
80KMT2DNM_003482.3(KMT2D): c.15079C> T (p.Arg5027Ter)single nucleotide variantPathogenicrs797045659GRCh38Chr 12, 49026887: 49026887
81KMT2DNM_003482.3(KMT2D): c.2954_2955insT (p.Pro986Thrfs)insertionPathogenicrs797045660GRCh38Chr 12, 49050633: 49050634
82KMT2DNM_003482.3(KMT2D): c.303delG (p.Ser102Alafs)deletionPathogenicrs797045661GRCh38Chr 12, 49054625: 49054625
83KMT2DNM_003482.3(KMT2D): c.3585dupA (p.Pro1196Thrfs)duplicationPathogenicrs797045662GRCh37Chr 12, 49443786: 49443786
84KMT2DNM_003482.3(KMT2D): c.3591delC (p.Thr1198Leufs)deletionPathogenicrs797045663GRCh37Chr 12, 49443780: 49443780
85KMT2DNM_003482.3(KMT2D): c.4981dupG (p.Glu1661Glyfs)duplicationPathogenicrs797045667GRCh38Chr 12, 49044505: 49044505
86KMT2DNM_003482.3(KMT2D): c.6171dupA (p.Ala2058Serfs)duplicationPathogenicrs797045668GRCh37Chr 12, 49435712: 49435712
87KMT2DNM_003482.3(KMT2D): c.6172delG (p.Ala2058Profs)deletionPathogenicrs797045669GRCh38Chr 12, 49041928: 49041928
88KMT2DNM_003482.3(KMT2D): c.836dupG (p.Cys279Trpfs)duplicationPathogenicrs797045670GRCh38Chr 12, 49053479: 49053479
89KMT2DNM_003482.3(KMT2D): c.8445_8475dup31 (p.Ala2826Thrfs)duplicationPathogenicrs797045671GRCh38Chr 12, 49038881: 49038911
90KMT2DNM_003482.3(KMT2D): c.9540delT (p.Glu3181Argfs)deletionPathogenicrs797045672GRCh38Chr 12, 49037816: 49037816
91KDM6ANM_021140.3(KDM6A): c.3835C> T (p.Arg1279Ter)single nucleotide variantLikely pathogenicGRCh38Chr X, 45090821: 45090821
92KMT2DNM_003482.3(KMT2D): c.11275C> T (p.Gln3759Ter)single nucleotide variantPathogenicGRCh38Chr 12, 49033430: 49033430
93KDM6ANG_016260.1: g.138880_185296del46417deletionPathogenicGRCh37Chr X, 44866302: 44912718
94KDM6ANM_001291415.1(KDM6A): c.3873G> A (p.Trp1291Ter)single nucleotide variantPathogenicrs398122929GRCh37Chr X, 44949156: 44949156
95KDM6ANM_001291415.1(KDM6A): c.1711C> T (p.Arg571Ter)single nucleotide variantPathogenicrs397514628GRCh37Chr X, 44922694: 44922694
96KDM6ANM_001291415.1(KDM6A): c.3510_3512delTCT (p.Leu1171del)deletionPathogenicrs398122829GRCh37Chr X, 44942774: 44942776
97KMT2DNM_003482.3(KMT2D): c.15536G> A (p.Arg5179His)single nucleotide variantPathogenicrs267607237GRCh37Chr 12, 49420213: 49420213
98KMT2DNM_003482.3(KMT2D): c.13579A> T (p.Lys4527Ter)single nucleotide variantPathogenicrs267607240GRCh37Chr 12, 49424768: 49424768
99KMT2DNM_003482.3(KMT2D): c.16360C> T (p.Arg5454Ter)single nucleotide variantPathogenicrs267607239GRCh37Chr 12, 49416115: 49416115
100KMT2DNM_003482.3(KMT2D): c.16391C> T (p.Thr5464Met)single nucleotide variantPathogenicrs267607238GRCh37Chr 12, 49416084: 49416084
101KDM6ANM_001291415.1(KDM6A): c.2065_2068delTCTA (p.Ser689Thrfs)deletionPathogenicrs398122969GRCh37Chr X, 44923048: 44923051
102KMT2DNM_003482.3(KMT2D): c.10623_10629delTCTGTGTinsCGCAAGTCACG (p.Leu3542Alafs)indelPathogenicrs398123699GRCh37Chr 12, 49427961: 49427967
103KMT2DNM_003482.3(KMT2D): c.10740G> A (p.Gln3580=)single nucleotide variantLikely pathogenicrs398123700GRCh37Chr 12, 49427850: 49427850
104KMT2DNM_003482.3(KMT2D): c.10819C> T (p.Gln3607Ter)single nucleotide variantPathogenicrs398123701GRCh37Chr 12, 49427669: 49427669
105KMT2DNM_003482.3(KMT2D): c.10834C> T (p.Gln3612Ter)single nucleotide variantPathogenicrs398123702GRCh37Chr 12, 49427654: 49427654
106KMT2DNM_003482.3(KMT2D): c.11149C> T (p.Gln3717Ter)single nucleotide variantPathogenicrs398123704GRCh37Chr 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)single nucleotide variantPathogenicrs398123708GRCh37Chr 12, 49426796: 49426796
109KMT2DNM_003482.3(KMT2D): c.12406C> T (p.Gln4136Ter)single nucleotide variantPathogenicrs398123711GRCh37Chr 12, 49426082: 49426082
110KMT2DNM_003482.3(KMT2D): c.12430C> T (p.Gln4144Ter)single nucleotide variantPathogenicrs398123712GRCh37Chr 12, 49426058: 49426058
111KMT2DNM_003482.3(KMT2D): c.1300dupC (p.Leu434Profs)duplicationPathogenicrs398123715GRCh37Chr 12, 49446166: 49446166
112KMT2DNM_003482.3(KMT2D): c.13032delC (p.Lys4345Asnfs)deletionPathogenicrs398123716GRCh37Chr 12, 49425456: 49425456
113KMT2DNM_003482.3(KMT2D): c.14580dupT (p.Asp4861Terfs)duplicationPathogenicrs398123720GRCh37Chr 12, 49421649: 49421649
114KMT2DNM_003482.3(KMT2D): c.14710C> T (p.Arg4904Ter)single nucleotide variantPathogenicrs398123721GRCh37Chr 12, 49421039: 49421039
115KMT2DNM_003482.3(KMT2D): c.15030dupA (p.Glu5011Argfs)duplicationPathogenicrs398123722GRCh37Chr 12, 49420719: 49420719
116KMT2DNM_003482.3(KMT2D): c.15104G> C (p.Cys5035Ser)single nucleotide variantLikely pathogenicrs398123723GRCh37Chr 12, 49420645: 49420645
117KMT2DNM_003482.3(KMT2D): c.15142C> T (p.Arg5048Cys)single nucleotide variantLikely pathogenicrs398123724GRCh37Chr 12, 49420607: 49420607
118KMT2DNM_003482.3(KMT2D): c.15641G> A (p.Arg5214His)single nucleotide variantLikely pathogenicrs398123729GRCh37Chr 12, 49420108: 49420108
119KMT2DNM_003482.3(KMT2D): c.15953_15956delTATT (p.Leu5318Serfs)deletionPathogenicrs398123732GRCh37Chr 12, 49418457: 49418460
120KMT2DNM_003482.3(KMT2D): c.16109delG (p.Gly5370Alafs)deletionPathogenicrs398123733GRCh37Chr 12, 49416602: 49416602
121KMT2DNM_003482.3(KMT2D): c.16306_16322del17insC (p.Ala5436Glnfs)indelPathogenicrs398123735GRCh37Chr 12, 49416389: 49416405
122KMT2DNM_003482.3(KMT2D): c.3532C> T (p.Gln1178Ter)single nucleotide variantPathogenicrs398123741GRCh37Chr 12, 49443839: 49443839
123KMT2DNM_003482.3(KMT2D): c.3834_3846delTATCAGCGGAGGC (p.Ile1279Lysfs)deletionPathogenicrs398123743GRCh37Chr 12, 49443525: 49443537
124KMT2DNM_003482.3(KMT2D): c.4135_4136delAT (p.Met1379Valfs)deletionPathogenicrs398123744GRCh37Chr 12, 49441848: 49441849
125KMT2DNM_003482.3(KMT2D): c.5645-2A> Gsingle nucleotide variantPathogenicrs398123750GRCh37Chr 12, 49436663: 49436663
126KMT2DNM_003482.3(KMT2D): c.5908_5915delGACAGCCC (p.Asp1970Leufs)deletionLikely pathogenic, Pathogenicrs398123751GRCh37Chr 12, 49436066: 49436073
127KMT2DNM_003482.3(KMT2D): c.6595delT (p.Tyr2199Ilefs)deletionLikely pathogenic, Pathogenicrs398123753GRCh37Chr 12, 49434958: 49434958
128KMT2DNM_003482.3(KMT2D): c.7066C> T (p.Gln2356Ter)single nucleotide variantPathogenicrs398123757GRCh37Chr 12, 49434487: 49434487
129KMT2DNM_003482.3(KMT2D): c.7140delG (p.Gln2380Hisfs)deletionPathogenicrs398123758GRCh37Chr 12, 49434413: 49434413

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 pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.0KDM6A, KMT2D

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:00350979.0KDM6A, KMT2D

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

idNameGO IDScoreTop Affiliating Genes
1in utero embryonic developmentGO:00017019.5KDM6A, KMT2D
2histone H3-K4 methylationGO:00515689.3KDM6A, KMT2D
3oxidation-reduction processGO:00551149.1GFER, KDM6A
4chromatin organizationGO:00063259.0KDM6A, KMT2D
5regulation of gene expressionGO:00104688.7KDM6A, KMT2D

Sources for Kabuki Syndrome 1

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet