Global Variome shared LOVD
HGSNAT (heparan-alpha-glucosaminide N-acetyltransfe...)
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Curator:
Alexey Pshezhetsky
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Inheritance
: Values based on OMIM's and HPO's values for inheritance.
AD
: Autosomal dominant
PI
: Autosomal dominant with paternal imprinting
MI
: Autosomal dominant with maternal imprinting
AR
: Autosomal recessive
Di
: Digenic
DD
: Digenic dominant
DR
: Digenic recessive
IC
: Isolated Cases (Sporadic)
Mi
: Mitochondrial
Mu
: Multifactorial
SMo
: Somatic mosaicism
SMu
: Somatic mutation
OG
: Oligogenic (3 genes)
PG
: Polygenic (>3 genes)
XL
: X-linked
XLD
: X-linked dominant
XLR
: X-linked recessive
YL
: Y-linked
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28 entries on 1 page. Showing entries 1 - 28.
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How to query
ID
Abbreviation
Name
OMIM ID
Inheritance
Individuals
Phenotypes
Associated with genes
Associated tissues
Disease features
04165
-
Lichtenstein–Knorr syndrome
-
-
1
1
SLC9A1
-
-
05901
ARCND
auriculocondylar syndrome (ARCND)
-
-
11
8
EDN1, HDAC9, PLCB4
-
-
04018
ARMD15
macular degeneration, age-related, type 15 (ARMD-15)
615591
-
-
-
C9
-
-
03531
ATFB12
fibrillation, atrial, familial, type 12
614050
AD
-
-
ABCC9
-
-
03328
AUTS16
autism, susceptibility to, type 16 (AUTS-16)
613410
-
-
-
SLC9A9
-
-
03449
C9D
complement component 9 deficiency (C9D)
613825
-
-
-
C9
-
-
00358
Cantu
osteochondrodysplasia, hypertrichotic (Cantu syndrome)
239850
AD
33
33
ABCC9
-
-
02766
CMD1O
cardiomyopathy, dilated, type 1O
608569
AD
-
-
ABCC9
-
-
06655
DIAR8
Diarrhea 8, secretory sodium, congenital
616868
AR
-
-
SLC9A3
-
-
01269
DMBCYP2A6
metabolism, drug, resistance, coumarin
122700
AD
7
7
CYP2A6, CYP2C9, F9, VKORC1
-
autosomal dominant
04264
DMBp
metabolism, drug, poor
-
-
203
133
CYP1A2, CYP2B6, CYP2C19, CYP2C9, CYP2D6, CYP3A5, DPYD
-
-
00025
FTDALS
dementia, frontotemporal, and/or amyotrophic lateral sclerosis (FTDALS)
105550
AD
277
11
C9orf72
-
-
00139
ID
intellectual disability (ID)
-
-
2695
2377
AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 553 more
-
-
06992
IDMYS
intellectual disability and myopathy syndrome
619719
AR
-
-
ABCC9
-
-
02958
IIAE1
encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1
610551
-
-
-
UNC93B1
-
-
05895
INF
infertility
-
-
20
19
C14orf39, C9orf84
-
-
05109
JBTS
Joubert syndrome (JBTS)
-
-
655
602
AHI1, ARL3, ARMC9, B9D1, CEP104, CEP290, MKS1, TCTN2, TMEM67
-
-
05824
JBTS30
Joubert syndrome, type 30 (JBTS30)
617622
AR
-
-
ARMC9
-
-
04667
LIKNS
Lichtenstein-Knorr syndrome? (LIKNS)
616291
AR
-
-
SLC9A1
-
-
00801
MRT13
mental retardation, autosomal recessive, type 13
613192
AR
3
3
TRAPPC9
-
hypoplastic supraorbital ridges; global developmental delay (HP:0001263); intellectual disability (HP:0001249); seizure (HP:0001250); hypotonia (HP:0001252); no short stature (-HP:0004322); obesity (HP:0001513); digital abnormalities (HP_0011297); tapering fingers, stereotypies, MRI changes (cerebral and cerebellar atrophy, thin corpus callosum, and multifocal supratentorial white matter abnormalities)
05736
MRX108
mental retardation, X-linked, type 108 (MRX108)
301024
XLR
-
-
SLC9A7
-
-
00839
MRXSCH
intellectual developmental disorder, X-linked syndromic, Christianson type
300243
XL
2
2
SLC9A6
-
X-linked dominant
00838
MRXSR
mental retardation, X-linked syndromic, Raymond type (MRXSR)
300799
-
3
3
ZDHHC9
-
-
07159
NDPACX
neurodegenerative disorder, X-linked, female-restricted, with parkinsonism and cognitive impairement
301142
XLD
-
-
SLC9A6
-
-
04154
NPHL
nephrolithiasis
-
-
1
1
CLCN5, SLC26A6, SLC9A3R1
-
-
03114
NPHLOP2
nephrolithiasis/osteoporosis, hypophosphatemic, type 2 (NPHLOP-2)
612287
AD
-
-
SLC9A3R1
-
-
05155
OPLL
ossification, posterior longitudinal ligament spine (OPLL)
-
-
21
20
CCDC91
-
-
06636
PCH1D
hypoplasia, pontocerebellar, type 1D
618065
AR
-
-
EXOSC9
-
-
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