Malaysian Node of the Human Variome Project Database
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Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
Inheritance
: Values based on OMIM's and HPO's values for inheritance.
AD
: Autosomal dominant
PI
: Autosomal dominant with paternal imprinting
MI
: Autosomal dominant with maternal imprinting
AR
: Autosomal recessive
Di
: Digenic
DD
: Digenic dominant
DR
: Digenic recessive
IC
: Isolated Cases (Sporadic)
Mi
: Mitochondrial
Mu
: Multifactorial
SMo
: Somatic mosaicism
SMu
: Somatic mutation
OG
: Oligogenic (3 genes)
PG
: Polygenic (>3 genes)
XL
: X-linked
XLD
: X-linked dominant
XLR
: X-linked recessive
YL
: Y-linked
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Matches
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combination
Text
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Date
2020
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Date
2020-03|2020-04
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Date
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Date
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Date
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Date
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all entries on or after June 15th, 2020
combination
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all entries in 2019 or 2020, and before March, 2020
Numeric
23
all entries exactly matching 23
|
Numeric
23|24
all entries exactly matching 23 or 24
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Numeric
!23
all entries not exactly matching 23
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Numeric
<23
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Numeric
<=23
all entries lower than, or equal to, 23
>
Numeric
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Numeric
>=23
all entries higher than, or equal to, 23
combination
Numeric
>=20 <30 !23
all entries with values from 20 to 29, but not equal to 23
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Example
Matches
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all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian
all entries containing 'Asian' but not containing 'Caucasian'
Asian|African !Caucasian
all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"
all entries containing 'South Asian', but not containing 'South East Asian'
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86 entries on 1 page. Showing entries 1 - 86.
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How to query
ID
Abbreviation
Name
OMIM ID
Inheritance
Individuals
Phenotypes
Associated with genes
Associated tissues
Disease features
00146
-
Cerebral Supratentorial Ependymomas
-
-
1
1
TP53
brain
-
00100
-
Class III Malocclusion
-
AD
1
1
DUSP6
-
-
00096
-
Autoinflammatory disorder
-
-
1
1
NLRC4
-
-
00137
-
Keloid Scar
-
-
1
1
SMAD4, TGFB1
-
-
00087
-
Pompe's Disease
232300
AR
2
2
GAA
-
-
00157
-
Sandhoff Disease
268800
AR
2
2
HEXB
-
-
00023
-
Gliomas
-
-
7
3
IDH1, PTEN, TP53
brain
-
00061
-
Epilepsy
-
-
16
3
RORA, RORB, SCN2A, SCN2B
-
-
00021
-
Breast cancer
114480
AD;SMu
17
7
CCL2, CHEK2, CYP2D6, ERCC2, IL16, MCM3AP, TP53, VEGFA, XPC
breast
-
00041
-
Hypodontia
-
-
10
5
PAX9
-
-
00116
ANEC
Acute Necrotizing Encephalopathy of Childhood
608033
AD
3
3
RANBP2
-
-
00082
ARCI
autosomal recessive congenital ichthyosis
-
AR
7
7
ABCA12, ALOX12B, TGM1
-
-
00154
ATRX
Alpha-thalassemia Mental Retardation Syndrome
301040
XLD
2
2
ATRX
-
-
00030
BD
Biotinidase deficiency
-
-
1
1
BTD
-
-
00104
BLAUS
Blau Syndrome
186580
AD
4
4
NOD2
-
-
00144
BPAN
Beta-propeller Protein-associated Neurodegeneration
300894
XLD
1
1
WDR45
brain
-
00001
BRCA1
Breast Cancer 1 gene
113705
-
23
7
BRCA1
breast
-
00002
BRCA2
Breast Cancer 2 gene
600185
-
14
4
BRCA2
breast
-
00024
CADASIL
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
-
-
6
5
NOTCH3
-
-
00112
CAH
Congenital Adrenal Hyperplasia
201910
AR
1
1
CYP21A2
-
-
00099
CDG-1a
Congenital Disorder of Glycosylation type 1a
212065
AR
1
1
PMM2
-
-
00133
CDLS
Cornelia de Lange syndrome
122470
AD
1
1
-
-
-
00089
CH
Congenital hypothyroidism
-
-
20
2
FOXE1, TPO, TSHR
-
-
00161
CHARGE
CHARGE Syndrome
214800
AD
1
1
CHD7
eyes;ears;heart muscle
-
00120
CHD
Congenital Heart Disease
-
-
1
1
GATA4
heart muscle
-
00151
CHILD
Congenital Hemidysplasia with Ichthyosiform Nevus and Limb Defects Syndrome
308050
XLD
1
1
NSDHL
-
-
00092
CIPA
Congenital insensitivity to pain with anhydrosis
256800
-
2
2
NTRK1
-
-
00051
CKD
Chronic kidney disease
-
-
1
1
AGER
kidney
-
00149
CMS
Congenital Myasthenic Syndrome
254210
AR
2
2
CHAT
-
-
00080
CMT
Charcot-Marie-Tooth disease
-
-
4
3
AHNAK2, GJB1, MPZ
-
-
00038
CPS1D
carbamoylphosphate synthetase I deficiency
-
-
2
2
CPS1
-
-
00028
CRC
colorectal , cancer
-
-
22
13
ANKDD1B, ATM, BRAF, CCDC144NL, CDK11B, CENPM, CLDN5, GOLGA8R, MAFA, MAGEB16, MAP3K14, MS4A12, MUC19, MUC6, NFKBIA, OR51Q1, OR5AR1, PKD1L3, PRIM2, PRM3, 3 more
-
-
00140
CVID3
Common Variable Immunodeficiency 3
613493
AR
1
1
CD19
-
-
00118
DEBP
Dystrophic Epidermolysis Bullosa Pruriginosa
604129
AD;AR
1
1
COL7A1
skin
-
00126
DEND
Developmental Delay, Epilepsy and Neonatal Diabetes Syndrome
-
-
1
1
KCNJ11
-
-
00139
DKC
Dyskeratosis Congenita
305000
XLR
2
2
DKC1
-
-
00064
DMD
Duchenne muscular dystrophy
-
-
7
9
-
-
-
00128
DPD
Dihydropyrimidine Dehydrogenase Deficiency
274270
AR
2
2
DPYD
-
-
00160
DRTA
Recessive Distal Renal Tubular Acidosis
611590
AR
2
2
SLC4A1
-
-
00042
DS
Down Syndrome
190685
IC
2
2
GATA1
-
-
00081
EOAD
Early Onset Alzheimer disease
-
AD
5
5
PRNP, PSEN1
brain
-
00119
EPVB6D
Early Onset Epilepsy, Vitamin B6-dependent
617290
AR
2
2
PLPBP
-
-
00015
F9
Haemophilia B
300746
-
6
3
F9
-
-
00132
FBP1D
Fructose-1,6-bisphosphatase Deficiency
229700
AR
7
7
FBP1
-
-
00031
FH
Familial hypercholesterolemia
-
-
23
14
ABCG8, APOB, LDLR, LDLRAP1, PCSK9
-
-
00014
G6PD
G6PD deficiency
305900
-
15
4
G6PD
-
-
00029
GA1
Glutaric aciduria type 1
-
-
2
2
GCDH
-
-
00062
GCE
Glycine encephalopathy/nonketotic hyperglycinemia
-
-
9
9
AMT, GLDC
-
-
00035
GEFS+
generalized epilepsy with febrile seizures plus
-
-
2
1
SCN1A
-
-
00142
GS
Griscelli Syndrome
607624
AR
1
1
RAB27A
-
-
00036
GSD III
Glycogen storage disease type III
-
-
5
5
AGL
-
-
00012
HBB
Beta-thalassaemia
141900
-
129
66
HBB
-
-
00022
HGSOC
high grade serous ovarian cancer
-
-
12
1
EGFR, FGFR3, KDR, KIT, MET, RET, SMO, STK11
-
-
00005
HNPCC
Lynch syndrome
609309
AD
7
1
MSH2, MSX1, PMS2
colon
-
00091
HP
Hereditary Pancreatitis
167800
-
3
2
PRSS1
pancreas
-
00148
HS
Histiocytosis Lymphadenopathy Plus Syndrome
602782
AR
1
1
-
-
-
00115
INAD
Infantile Neuroaxonal Dystrophy
256600
AR
2
2
PLA2G6
-
-
00052
JOAG
juvenile-onset open angle glaucoma
-
-
2
1
MYOC
-
-
00007
KRAS
Colorectal cancer (Kras)
190070
-
8
4
KRAS
colon
-
00159
LNS
Lesch–Nyhan Syndrome
300322
XLR
4
3
HPRT1
-
-
00147
LS
Leigh Syndrome
256000
AR
1
1
SURF1
-
-
00004
MEN1
Multiple Endocrine Neoplasia
613733
-
2
1
MEN1
-
-
00121
MIA
Multiple Intestinal Atresias
243150
AR
1
1
TTC7A
-
-
00131
MNGIE
Mitochondrial Neurogastrointestinal Encephalomyopathy
603041
AR
6
3
TYMP
-
-
00032
MPS IVA
Mucopolysaccharidosis IVA
-
-
1
1
GALNS
-
-
00034
MSUD
maple syrup urine disease
-
-
10
9
BCKDHA, BCKDHB, DBT
-
-
00095
MWS
Mowat-Wilson Syndrome
235730
-
1
1
ZEB2
-
-
00129
NICCD
Neonatal Intrahepatic Cholestasis caused by Citrin Deficiency
605814
AR
11
11
SLC25A13
-
-
00040
NSHL
non-syndromic hearing loss
-
-
8
1
GJB2, GJB6
-
-
00027
OI
Osteogenesis imperfecta
-
-
2
2
COL1A1, COL1A2
-
-
00025
OTCD
Ornithine transcarbamylase deficiency
-
-
2
2
OTC
-
-
00018
PALB2
Partner And Localizer Of BRCA2
-
-
5
4
PALB2
-
-
00039
PD
Parkinson’s disease
-
-
13
7
DRD1, GBA, GRIN2B, PINK1, PRKN
-
-
00108
PDS
Pendred syndrome
274600
AR
2
2
DUOX2, GJB2, SCARB2, SLC26A4
ears
-
00134
PID
Primary immunodeficiency diseases
-
-
3
2
ADAM28, CD19, CD27, CD86, CR2, CTLA4, FANCA, LRBA, SDK1, STXBP2
-
-
00019
PIK3CA
phosphoinositide-3-kinase, catalytic, alpha polypeptide
-
-
1
1
PIK3CA
-
-
00155
PMD
Pelizaeus-Merzbacher Disease
312080
XLR
1
1
PLP1
-
-
00165
SCD
Sickle Cell Anemia
603903
AR
1
1
HBB
-
-
00130
SSADHD
Succinic Semialdehyde Dehydrogenase Deficiency
271980
AR
1
1
ALDH5A1
-
-
00078
THES
trichohepatoenteric syndrome
222470
AR
2
2
SKIV2L, TTC37
-
-
00037
TSC
Tuberous sclerosis complex
-
-
6
6
TSC1, TSC2
-
-
00138
TSD
Tay-Sach Disease
272800
AR
1
1
HEXA
-
-
00098
WAS
Wiskott-Aldrich Syndrome
301000
XLR
3
2
WAS
-
-
00141
X-CGD
X-linked Chronic Granulomatous Disease
306400
XLR
2
2
CYBB, NCF1
-
-
00076
XLA
X-linked agammaglobulinemia
300755
XLR
6
4
BTK
-
-
00017
α-thalassaemia
Alpha thalassaemia
-
-
49
46
HBA1, HBA2
-
-
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