Global Variome shared LOVD
C9orf163 (chromosome 9 open reading frame 163)
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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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38 entries on 1 page. Showing entries 1 - 38.
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How to query
ID
Abbreviation
Name
OMIM ID
Inheritance
Individuals
Phenotypes
Associated with genes
Associated tissues
Disease features
02354
-
stroke, ischemic, susceptibility to
601367
Mu
2
2
ALOX5AP, F2, F5, NOS3, PRKCH
-
-
05557
ALS25
sclerosis, lateral, amyotrophic, type 25 (ALS25)
617921
AD
-
-
KIF5A
-
autosomal dominant
06885
AMD
dysplasia, acromesomelic
-
-
2
2
BMPR1B, GDF5, NPR2, PRKG2
-
-
00191
AMD2A
dysplasia, acromesomelic, type 2A, Grebe
200700
AR
3
3
GDF5
-
-
01034
AMD2B
dysplasia, acromesomelic, type 2B, Du Pan syndrome
228900
AR
-
-
GDF5
-
-
01032
AMD2C
dysplasia, acromesomelic, type 2C, Hunter-Thompson
201250
AR
-
-
GDF5
-
-
03821
BDA1C
brachydactyly, type A1, C (BD-A1C)
615072
AR
-
-
GDF5
-
-
00184
BDA2
brachydactyly, type A2 (BD-A2)
112600
AD
-
-
BMP2, BMPR1B, GDF5
-
-
01033
BDC
brachydactyly, type C (BD-C)
113100
AD
3
1
GDF5
-
-
02320
BDCHS
Budd-Chiari syndrome (BDCHS)
600880
AR
-
-
F5, JAK2
-
-
00332
CILD
dyskinesia, ciliary, primary (CILD)
-
-
219
211
C21orf59, CCDC164, CCDC39, DNAAF3, DNAH1, DNAH5, HEATR2, HYDIN, TTC12
-
-
03969
CILD26
dyskinesia, ciliary, primary, 26 (CILD-26)
615500
AR
-
-
C21orf59
-
-
07110
DENNED
Dentici-Novelli neurodevelopmental syndrome
619877
AR
1
1
ZNF526
-
-
06188
EORVA
Ophthalmoplegia, external, with rib and vertebral anomalies
618155
AR
-
-
MYF5
-
-
03105
IBD14
bowel disease, inflammatory, type 14 (IBD-14)
612245
-
-
-
IRF5
-
-
00139
ID
intellectual disability (ID)
-
-
2694
2376
AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 553 more
-
-
00201
INFM
infertility, male (INFM)
-
-
261
225
ACTL9, AKAP3, ARMC12, AURKC, C12orf55, CCDC34, CFAP61, CXorf59, DNHD1, DPY19L2, FKBP6, M1AP, MAATS1, MNS1, MSH4, MSH5, SSX1
-
-
02559
LORD
retinal degeneration, late-onset (LORD)
605670
AD
-
-
C1QTNF5
-
-
00611
MC1DN
mitochondrial complex I deficiency, nuclear (MC1DN)
252010
AR
31
29
ACAD9, FOXRED1, NDUFA1, NDUFA11, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFV1, NDUFV2, NUBPL, TIMMDC1
-
-
06517
MC1DN16
Mi complex I deficiency, nuclear type 16
618238
AR
-
-
NDUFAF5
-
-
05661
MRX107
mental retardation, X-linked, type 107 (MRX107)
301013
XL
-
-
CXorf56
-
-
00187
MRX;IDX
mental retardation, X-linked (MRX, intellectual disability (IDX))
-
-
1921
1900
ARX, CXorf56, IL1RAPL1
-
X-linked
05556
NEIMY
myoclonus, intractable, neonatal (NEIMY)
617235
AD
-
-
KIF5A
-
autosomal dominant
05296
OI
osteogenesis imperfecta
-
-
4591
1414
BMP1, CCDC134, COL1A1, COL1A2, CREB3L1, CRTAP, FAM46A, FKBP10, IFITM5, KDELR2, KIF5B, MBTPS2, MESDC2, P3H1, PHLDB1, SERPINF1, SERPINH1, SP7, SPARC, TMEM38B, WNT1
-
-
01036
OS5
sosteoarthritis, susceptibility 5 (OS-5)
612400
-
-
-
GDF5
-
-
01779
PARAHEMOPHILIA
deficiency, factor V (F5D)
227400
AR
121
121
F5
-
-
03371
RP58
retinitis pigmentosa, type 58 (RP58)
613617
AR
-
-
ZNF513
-
-
03625
RPRGL
pregnancy loss, recurrent, susceptibility to (RPRGL)
-
-
7
7
ANXA5, F2, F5
-
-
05456
RPRGL1
pregnancy loss, recurrent, susceptibility to, type 1 (RPRGL-1)
614389
AD
-
-
F5
-
-
03106
SLEB10
lupus erythematosus, systemic, type 10 (SLEB-10)
612251
-
-
-
IRF5
-
-
00213
SPG10
paraplegia, spastic, autosomal dominant, type 10 (SPG-10)
604187
AD
8
7
KIF5A
-
-
06940
SPGFX3
spermatogenic failure, X-linked, type 3
301059
XLR
-
-
CXorf59
-
-
00729
SYM
symphalangism, proximal (SYM)
-
-
12
11
GDF5, NOG
-
-
03892
SYM1B
symphalangism, proximal, type 1B (SYM1B)
615298
AD
-
-
GDF5
-
-
01035
SYNS2
synostoses syndrome, multiple, type 2 (SYNS-2)
610017
AD
1
-
GDF5
-
-
01590
TCMGLY
trichomegaly (TCMGLY)
190330
AR
3
2
FGF5
-
-
01727
TEMTYS
Temtamy syndrome
218340
AR
5
5
C12orf57
-
-
01582
THPH2
thrombophilia, due to activated protein C resistance (THPH2)
188055
AD
7
7
F5
-
-
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