Malaysian Node of the Human Variome Project Database
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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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166 entries on 2 pages. Showing entries 1 - 100.
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ID
Abbreviation
Name
OMIM ID
Inheritance
Individuals
Phenotypes
Associated with genes
Associated tissues
Disease features
00021
-
Breast cancer
114480
AD;SMu
17
7
CCL2, CHEK2, CYP2D6, ERCC2, IL16, MCM3AP, TP53, VEGFA, XPC
breast
-
00023
-
Gliomas
-
-
7
3
IDH1, PTEN, TP53
brain
-
00041
-
Hypodontia
-
-
10
5
PAX9
-
-
00045
-
Hyperhomocysteinemia
603174
-
7
-
MTHFR, PCSK9
-
-
00048
-
Obesity
-
-
30
-
ACE, CARTPT, FTO, GHRL, INSIG2, LEPR, MC4R, UCP1, UCP2, UCP3
-
-
00055
-
Nephrolithiasis
-
-
1
-
MMP9
-
-
00057
-
Asthma
-
-
1
-
IL13
-
-
00058
-
Schizophrenia disease
-
-
6
-
DISC1
-
-
00061
-
Epilepsy
-
-
16
3
RORA, RORB, SCN2A, SCN2B
-
-
00065
-
Gout
-
-
2
-
SLC2A9
-
-
00083
-
pharmacogenetics
-
-
3
-
CYP2D6
-
-
00084
-
Coronary Heart Disease
-
-
1
-
CYP11B2
heart muscle
-
00087
-
Pompe's Disease
232300
AR
2
2
GAA
-
-
00090
-
Neonatal Hyperbilirubinemia
237900
AR
7
-
SLCO1B1, UGT1A1
-
-
00096
-
Autoinflammatory disorder
-
-
1
1
NLRC4
-
-
00100
-
Class III Malocclusion
-
AD
1
1
DUSP6
-
-
00103
-
Amyloidosis, Hereditary, Transthyretin-Related
105210
AD
6
-
TTR
-
-
00125
-
Neonatal Jaundice
-
-
2
-
UGT1A1
-
-
00135
-
Cold Pain Sensitivity
-
-
1
-
-
-
-
00137
-
Keloid Scar
-
-
1
1
SMAD4, TGFB1
-
-
00146
-
Cerebral Supratentorial Ependymomas
-
-
1
1
TP53
brain
-
00152
-
Brain Tumor
-
-
1
-
BRAF, CYP2A6
brain
-
00157
-
Sandhoff Disease
268800
AR
2
2
HEXB
-
-
00009
ABCB1
Epilepsy syndrome
171050
-
-
-
ABCB1
hippocampus
-
00068
ACE
angiotensin I converting enzyme
106180
-
-
-
ADRA2A
-
-
00107
ADSLD
Adenylosuccinate Lyase Deficiency
103050
AR
1
-
ADSL
-
-
00109
AHDS
Allan-Herndon-Dudley Syndrome
300523
XL
1
-
SLC16A2
-
-
00110
ALD
Adrenoleukodystrophy
300100
XLR
-
-
ABCD1
-
-
00162
AML
Acute myeloid leukemia
601626
AD;SMu
-
-
FLT3, NPM1
-
-
00116
ANEC
Acute Necrotizing Encephalopathy of Childhood
608033
AD
3
3
RANBP2
-
-
00008
APC
Colorectal cancer(APC)
611731
-
5
-
APC
colon
-
00082
ARCI
autosomal recessive congenital ichthyosis
-
AR
7
7
ABCA12, ALOX12B, TGM1
-
-
00044
ASD
Atrial septal defect
-
-
1
-
MYH3
-
-
00033
ASLD
Argininosuccinate lyase (ASL) deficiency
-
-
3
-
ASL
-
-
00101
AT3D
Antithrombin III deficiency
613118
AD;AR
1
-
SERPINC1
-
-
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
-
00060
BPD
Bipolar disorder
-
-
12
-
HTR2A, PDLIM5
-
-
00001
BRCA1
Breast Cancer 1 gene
113705
-
23
7
BRCA1
breast
-
00002
BRCA2
Breast Cancer 2 gene
600185
-
14
4
BRCA2
breast
-
00075
CA
congenital aniridia
106210
AD
1
-
PAX6
-
-
00024
CADASIL
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
-
-
6
5
NOTCH3
-
-
00112
CAH
Congenital Adrenal Hyperplasia
201910
AR
1
1
CYP21A2
-
-
00077
CC
cervical cancer
603956
-
1
-
FAS
-
-
00047
CD
Crohn's disease
-
-
20
-
ATG16L1, CXCL16, DLG5, IL23R, IRGM, NOD1, SLC22A5, STAT3, STAT6, TLR4, TYK2
-
-
00099
CDG-1a
Congenital Disorder of Glycosylation type 1a
212065
AR
1
1
PMM2
-
-
00133
CDLS
Cornelia de Lange syndrome
122470
AD
1
1
-
-
-
00013
CFTR
Cystic fibrosis
602421
-
1
-
CFTR
-
-
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
-
00063
CML
chronic myeloid leukemia
-
-
5
-
ABL1
-
-
00169
CMP
Cardiomyopathy
-
-
-
-
-
-
-
00149
CMS
Congenital Myasthenic Syndrome
254210
AR
2
2
CHAT
-
-
00080
CMT
Charcot-Marie-Tooth disease
-
-
4
3
AHNAK2, GJB1, MPZ
-
-
00011
COMT
Schizophrenia
116790
-
1
-
AKT1
brain
-
00158
COPD
Chronic Obstructive Pulmonary Disease
606963
-
1
-
JAK2
-
-
00164
CPS
Complex Partial Seizures
608096
AD
-
-
ABCC2
-
-
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
-
-
00097
CTLN2
Citrullinemia, Type II, Adult-Onset
603471
AR
1
-
SLC25A13
-
-
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
-
-
00071
DR
diabetic retinopathy
603933
AD
1
-
SLC2A1
-
-
00160
DRTA
Recessive Distal Renal Tubular Acidosis
611590
AR
2
2
SLC4A1
-
-
00042
DS
Down Syndrome
190685
IC
2
2
GATA1
-
-
00054
EH
Essential Hypertension
-
-
15
-
ADRB2, AGT, MMP1, MMP12, MMP9, NOS3, TIMP1
-
-
00081
EOAD
Early Onset Alzheimer disease
-
AD
5
5
PRNP, PSEN1
brain
-
00156
EPM11
Progressive Myoclonic Epilepsy 11
618876
AD
1
-
SEMA6B
-
-
00119
EPVB6D
Early Onset Epilepsy, Vitamin B6-dependent
617290
AR
2
2
PLPBP
-
-
00026
F8
Haemophilia A
-
-
6
-
F8
-
-
00015
F9
Haemophilia B
300746
-
6
3
F9
-
-
00132
FBP1D
Fructose-1,6-bisphosphatase Deficiency
229700
AR
7
7
FBP1
-
-
00106
FD
Fabry Disease
301500
XL
3
-
GLA
-
-
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
-
-
00073
GDM
gestational diabetes mellitus
-
-
3
-
GCKR
-
-
00035
GEFS+
generalized epilepsy with febrile seizures plus
-
-
2
1
SCN1A
-
-
00117
GGE
Genetic Generalized Epilepsy
-
AD
1
-
SCN1A, TAS1R2
-
-
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
-
-
00114
HCS
Holocarboxylase Synthetase Deficiency
253270
AR
1
-
-
-
-
00022
HGSOC
high grade serous ovarian cancer
-
-
12
1
EGFR, FGFR3, KDR, KIT, MET, RET, SMO, STK11
-
-
00153
HH
Hereditary Hemochromatosis
235200
AR
3
-
HFE
-
-
00005
HNPCC
Lynch syndrome
609309
AD
7
1
MSH2, MSX1, PMS2
colon
-
00163
HNPCC
Hereditary non-polyposis colorectal cancer
-
AD
-
-
MLH1, MSH2, MSH6
-
-
00091
HP
Hereditary Pancreatitis
167800
-
3
2
PRSS1
pancreas
-
00093
HPABH-4A
hyperphenylalaninemia, BH4-deficient, type A (HPABH-4A, 6-pyruvoyl-tetrahydropterin synthase deficiency)
261640
AD
1
-
PTS
-
-
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