Global Variome shared LOVD
PRKACB (protein kinase, cAMP-dependent, catalytic, ...)
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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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Date
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Date
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Date
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Date
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Date
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Numeric
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Numeric
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Numeric
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all entries containing 'South Asian', but not containing 'South East Asian'
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34 entries on 1 page. Showing entries 1 - 34.
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ID
Abbreviation
Name
OMIM ID
Inheritance
Individuals
Phenotypes
Associated with genes
Associated tissues
Disease features
01164
-
adenosine triphosphate, elevated
102900
AD
1
1
PKLR
-
-
04547
-
lymphoma, Hodgkin, susceptibility to
246000
-
-
-
KLHDC8B
-
-
04548
-
kallikrein, decreased urinary activity of
615953
-
-
-
KLK1
-
-
01652
AI2A1
amelogenesis imperfecta, hypomaturation type, IIA1 (AI2A1)
204700
AR
-
-
KLK4
-
-
00230
AS
Angelman syndrome (AS)
105830
AD
134
140
CDKL5, MECP2, UBE3A
-
-
03381
cancer, gastric
cancer, gastric (Neoplasm of stomach)
613659
-
102
88
APC, CASP10, ERBB2, FGFR2, IRF1, KLF6, MUTYH, PIK3CA
-
-
01524
cancer, prostate
cancer, prostate
176807
AD;SMu
252
204
AR, BRCA2, CD82, CDH1, CHEK2, HIP1, KLF6, MAD1L1, MSR1, MXI1, PTEN, ZFHX3
-
-
04546
CDAN4
anemia, dyserythropoietic, congenital, type IV (CDAN-4)
613673
AD
-
-
KLF1
-
-
01843
CHL
lymphoma, Hodgkin, classic (CHL)
236000
AR
1
1
KLHDC8B
-
-
03830
CWS4
Cowden syndrome, type 4 (CWS-4)
615107
-
-
-
KLLN
-
-
00067
DEE2
encephalopathy, developmental and epileptic, type 2
300672
XLD
62
56
CDKL5
-
-
06572
EBSSH
Epidermolysis bullosa simplex, generalized, with scarring and hair loss
617294
AD
-
-
KLHL24
-
-
03139
EPM1B
epilepsy, progressive myoclonic, type 1B (EPM1B)
612437
AR
8
7
PRICKLE1
-
-
03364
HBFQTL6
hemoglobin, fetal, quantitative trait locus 6 (HBFQTL-6)
613566
-
-
-
KLF1
-
-
04472
HFTC
calcinosis, tumoral, hyperphosphatemic, familial (HFTC)
211900
AR
-
-
FGF23, GALNT3, KL
-
-
06219
HFTC3
?Tumoral calcinosis, hyperphosphatemic, familial, 3
617994
-
-
-
KL
-
-
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
-
-
06547
IMD66
?Immunodeficiency 66
618847
AR
-
-
MKL1
-
-
01199
INLU
blood group system, Lutheran inhibitor (INLU)
111150
-
-
-
KLF1
-
-
06167
MCPH16
Microcephaly 16, primary, autosomal recessive
616681
AR
-
-
ANKLE2
-
-
05421
microcephaly
microcephaly
-
-
525
437
ASPM, CRNKL1, FAM178A, MCM7, SMC5
-
-
02954
MODY7
diabetes of the young, maturity-onset, type 7 (MODY-7)
610508
-
-
-
KLF11
-
-
04164
NEM
myopathy, nemaline (NEM)
-
-
471
470
CFL2, KLHL40, KLHL41, NEB
-
-
03901
NEM8
myopathy, nemaline, type 8 (NEM-8)
615348
AR
1
1
KLHL40
-
-
04068
NEM9
myopathy, nemaline, type 9 (NEM-9)
615731
AR
-
-
KLHL41
-
-
06737
PERCHING
PERCHING syndrome
617055
AR
-
-
KLHL7
-
-
03668
PHA2D
pseudohypoaldosteronism type 2D (PHA-2D)
614495
AD;AR
1
1
KLHL3
-
-
03138
PKKD
prekallikrein (Fletcher factor) deficiency
612423
AR
18
17
KLKB1
-
-
02045
pyr.kin. deficiency
pyruvate kinase deficiency
266200
AR
770
327
PKLR
-
-
02757
RP26
retinitis pigmentosa, type 26 (RP26)
608380
-
-
-
CERKL
-
-
03215
RP42
retinitis pigmentosa, type 42 (RP42)
612943
AD
-
-
KLHL7
-
-
03824
SPGF11
spermatogenic failure, type 11 (SPGF-11)
615081
AD
2
2
KLHL10
-
-
05927
SPOAN
paraplegia, spastic, optic atrophy, and neuropathy (SPOAN)
609541
AR
2
1
KLC2
-
-
05740
XLID103
intellectual developmental disorder, X-linked, type 103
300982
XLR
2
2
KLHL15
-
-
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