Global Variome shared LOVD
ZNF300P1 (zinc finger protein 300 pseudogene 1)
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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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55 entries on 1 page. Showing entries 1 - 55.
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ID
Abbreviation
Name
OMIM ID
Inheritance
Individuals
Phenotypes
Associated with genes
Associated tissues
Disease features
00536
-
angiopathy, amyloid, cerebral, CST3-related (Icelandic type, amyloidosis type VI)
105150
AD
1
1
CST3
-
-
01469
-
neutrophilia, hereditary
162830
-
-
-
CSF3R
-
-
01942
-
holocarboxylase synthetase deficiency
253270
AR
1
1
HLCS
-
-
01367
ACNINV1
acne inversa, familial, type 1 (ACNINV-1, hidradenitis suppurativa, familial)
142690
AD
3
3
NCSTN
-
-
00537
ARMD11
macular degeneration, age-related, type 11 (ARMD-11)
611953
-
-
-
CST3
-
-
05356
ataxia
ataxia
-
-
184
175
SACS
-
-
06679
BANDDOS
Brain abnormalities, neurodegeneration, and dysosteosclerosis
618476
AR
-
-
CSF1R
-
-
00036
BJS
Bjornstad syndrome (BJS)
262000
AR
-
-
BCS1L
-
-
03130
BMIQ12
body mass index quantitative trait locus 12 (BMIQ-12)
612362
-
-
-
PCSK1
-
-
03590
CMAMMA
aciduria, combined malonic and methylmalonic (CMAMMA)
614265
-
1
1
ACSF3
-
-
02663
CMD1M
cardiomyopathy, dilated, type 1M (CMD-1M)
607482
-
-
-
CSRP3
-
-
05553
CMD2C
cardiomyopathy, dialted, type 2C (CMD-2C)
618189
AR
-
-
PPCS
-
autosomal recessive
03091
CMH12
cardiomyopathy, hypertrophic, familial, type 12 (CMH-12)
612124
AD
-
-
CSRP3
-
-
05288
DIAR
diarrhea (DIAR)
-
-
91
91
ACSL5, WNT2B
-
-
07033
DIAR13
diarrhea, type 13
620357
AR
-
-
ACSL5
-
-
05728
ECTD
dysplasia, ectodermal (ECTD)
-
-
60
59
CST6, KRT85
-
-
06148
ECTD15
?Ectodermal dysplasia 15, hypohidrotic/hair type
618535
AR
-
-
CST6
-
-
05788
EIEE66
encephalopathy, epileptic, early infantile, type 66 (EIEE66)
618067
AD
1
-
PACS2
-
-
03454
EPM
epilepsy, myoclonic, progressive (EPM)
-
-
76
67
CSTB, GOSR2
-
-
00009
EPM1A
epilepsy, myoclonic, progressive, type 1A (EPM1A, Unverricht and Lundborg)
254800
AR
2
3
CSTB
-
-
02498
FASPS
sleep phase syndrome, advanced, familial
-
-
-
-
CSNK1D, PER2, PER3
-
-
03857
FASPS2
sleep phase syndrome, advanced, familial, type 2 (FASPS2)
615224
AD
-
-
CSNK1D
-
-
00164
FHCL3
hypercholesterolemia, familial, type 3
603776
AD
-
-
PCSK9
-
-
00035
GCE
encephalopathy, glycine (GCE)
-
-
588
588
AMT, GCSH, GLDC
-
-
01653
GDLD
dystrophy, corneal, gelatinous drop-like (GDLD)
204870
AR
-
-
TACSTD2
-
-
00039
GRACILE
GRACILE syndrome
603358
AR
-
-
BCS1L
-
-
01749
HDLS
leukoencephalopathy, diffuse hereditary, with spheroid (HDLS)
221820
AD
3
1
CSF1R
-
-
00170
HMGCS2D
3-hydroxy-3-methylglutaryl-CoA synthase deficiency, type 2D
605911
AR
14
14
HMGCS2
-
-
00139
ID
intellectual disability (ID)
-
-
2700
2382
AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 553 more
-
-
04039
JBTS21
Joubert syndrome, type 21 (JBTS-21)
615636
AR
1
1
CSPP1
-
-
00038
LS
Leigh syndrome (LS)
256000
AR;Mi
72
62
BCS1L, C17orf89, COX10, COX15, FASTKD5, FOXRED1, NDUFA12, NDUFA2, NDUFA9, NDUFAF2, NDUFAF6, NDUFS3, NDUFS4, NDUFS7, NDUFS8, SDHA, SURF1
-
-
02246
LSDMCA1
Linear skin defects with multiple congenital anomalies 1
309801
XLD
-
-
HCCS
-
-
05452
MC3DN
mitochondrial complex III deficiency, nuclear (MC3DN)]
-
-
4
4
BCS1L, C11orf83, CYC1, LYRM7, MNF1, TTC19, UQCRB, UQCRC2, UQCRFS1, UQCRQ
-
-
00037
MC3DN1
mitochondrial complex III deficiency, nuclear, type 1 (MC3DN-1)]
124000
AR
1
1
BCS1L
-
-
07138
MMDS7
mitochondrial dysfunctions, multiple, syndrome, type 7
620423
AR
-
-
GCSH
-
-
05759
MOCOD
deficiency, Molybdenum cofactor (MOCOD)
-
-
24
24
GPHN, MOCS1, MOCS2
-
-
01927
MOCODA
deficiency, Molybdenum cofactor, complementation group A (MOCODA)
252150
AR
-
-
MOCS1
-
-
01928
MOCODB
deficiency, Molybdenum cofactor, complementation group B (MOCODB)
252160
AR
-
-
MOCS2
-
-
01125
MRX63
mental retardation, X-linked, type 63 (MRX63)
300387
XLD
2
-
ACSL4
-
-
02325
obesity
obesity with impaired prohormone processing (proprotein convertase 1/3 deficiency)
600955
AR
1
1
PCSK1
-
-
06507
OCNDS
Okur-Chung neurodevelopmental syndrome
617062
AD
2
2
CSNK2A1
-
-
03443
PCH2D
hypoplasia, pontocerebellar, type 2D (PCH-2D)
613811
AR
-
-
SEPSECS
-
-
01512
PCLD
liver disease, polycystic (PCLD)
-
-
2
1
PRKCSH, SEC63
-
-
05344
PCLD1
liver disease, polycystic, type 1 (PCLD-1)
174050
AD
-
-
PRKCSH
-
-
06723
POBINDS
Poirier-Bienvenu neurodevelopmental syndrome
618732
AD
1
1
CSNK2B
-
-
02724
PSS4
skin, peeling, syndrome, type 4 (PSS-4, exfoliative ichthyosis)
607936
AR
-
-
CSTA
-
autosomal recessive
02076
SACS
ataxia, spastic, Charlevoix-Saguenay type (SACS)
270550
AR
100
99
SACS
-
-
06009
SCN7
Neutropenia, severe congenital, 7, autosomal recessive
617014
AR
-
-
CSF3R
-
-
06804
SDJLABA
Skeletal dysplasia, mild, with joint laxity and advanced bone age
618870
-
-
-
CSGALNACT1
-
-
00851
SHMS;MRD17
Schuurs-Hoeijmakers syndrome (SHMS, mental retardation, autosomal dominant, type 17 (MRD-17))
615009
AD
1
1
PACS1
-
-
04182
SMDP
surfactant metabolism dysfunction, pulmonary (SMDP)
-
-
-
-
CSF2RA
-
-
04181
SMDP4
surfactant metabolism dysfunction, pulmonary, type 4 (SMDP4)
300770
-
-
-
CSF2RA
-
-
03614
SMDP5
surfactant metabolism dysfunction, pulmonary, type 5 (SMDP-5)
614370
AR
-
-
CSF2RB
-
-
05355
spastic ataxia
ataxia, spastic
-
-
95
95
SACS
-
-
03077
THC4
thrombocytopenia, type 4 (THC-4)
612004
AD
-
-
CYCS
-
-
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