Global Variome shared LOVD
TMEM67 (transmembrane protein 67)
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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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Date
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49 entries on 1 page. Showing entries 1 - 49.
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How to query
ID
Abbreviation
Name
OMIM ID
Inheritance
Individuals
Phenotypes
Associated with genes
Associated tissues
Disease features
00787
-
encephalopathy, neonatal, severe
300673
XLR
13
26
MECP2
-
-
01620
-
acid phosphatase deficiency
200950
AR
-
-
ACP2
-
-
01955
-
carnitine palmitoyltransferase II deficiency, late-onset
255110
AD;AR
2
2
CPT2
-
-
02308
-
CPT II deficiency, infantile
600649
AR
3
3
CPT2
-
-
02798
-
CPT II deficiency, lethal neonatal
608836
AR
-
-
CPT2
-
-
00122
ACEP
aceruloplasminemia
604290
AR
3
1
CP
-
-
06416
AI1J
Amelogenesis imperfecta, type IJ
617297
AR
-
-
ACPT
-
-
04439
ARS
Al-Raqad syndrome (ARS)
616459
AR
-
-
DCPS
-
-
00230
AS
Angelman syndrome (AS)
105830
AD
134
140
CDKL5, MECP2, UBE3A
-
-
06417
ASGD8
Anterior segment dysgenesis 8
617319
AR
-
-
CPAMD8
-
-
02161
AUTSX3
autism, susceptibility to, X-linked, type 3 (AUTSX-3)
300496
XL
-
-
MECP2
-
-
05062
BBS15
Bardet-Biedl syndrome?, type 15 (BBS-15)
615992
AR
-
-
WDPCP
-
-
06895
BDVS
Blakemore-Durmaz-Vasileiou syndrome
619326
AR
5
5
CPE
-
-
02655
BMIQ4
body mass index quantitative trait locus 4 (BMIQ-4)
607447
-
-
-
UCP2
-
-
05063
CHDTHP
heart defects, congential?, hamartomas of tongue, and polysyndactyly (CHDTHP)
217085
AR
-
-
WDPCP
-
-
06808
CMT2Y
Charcot-Marie-Tooth disease, type 2Y
616687
AD
-
-
VCP
-
-
01691
CPN1D
carboxypeptidase N deficiency (CPN1D)
212070
AR
10
8
CPN1
-
-
01848
CPSID
carbamoylphosphate synthetase I deficiency
237300
AR
238
94
CPS1
-
-
01956
CPTD1A
carnitine palmitoyltransferase deficiency, type IA
255120
AR
2
2
CPT1A
-
-
00841
EIEE
encephalopathy, epileptic, early infantile (EIEE)
-
-
155
158
CELSR3, CPLX1, HNRNPU, ITPA, PHACTR1, RHOBTB2
-
-
05799
EIEE63
encephalopathy, epileptic, early infantile, type 63 (EIEE63)
617976
AR
-
-
CPLX1
-
-
03637
ETL5
epilepsy, temporal lobe, familial, type 5 (ETL-5)
614417
AD;AR
4
3
CPA6
-
-
05979
FCAS1
FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1
-
AD
-
-
CPN1
-
-
03638
FEB11
Febrile seizures, familial, 11
614418
AR
4
4
CPA6
-
-
03493
FTDALS6;ALS14
dementia, frontotemporal, and/or amyotrophic lateral sclerosis, type 6 (ALS14)
613954
AD
-
-
VCP
-
-
01264
HCP
coproporphyria, hereditary
121300
AD;AR
7
6
CPOX
-
-
03812
HSAN9;SPG49
neuropathy, hereditary sensory and autonomic, type IX, with developmental delay (SPG49)
615031
AR
-
-
TECPR2
-
-
00218
IBMPFD1
myopathy, inclusion body, with early-onset Paget disease and frontotemporal dementia, type 1
167320
AD
62
20
VCP
-
-
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
-
-
03583
IIAE4
encephalopathy, acute, infection-induced, 4, susceptibility to (IIAE4)
614212
AD;AR
-
-
CPT2
-
-
03407
LKDMN
Leukoencephalopathy with dystonia and motor neuropathy
613724
AR
3
1
SCP2
-
-
01113
MCCRP1
microcephaly and chorioretinopathy, autosomal recessive, type 1 (MCCRP-1)
251270
AR
1
2
TUBGCP6
-
-
05053
MCCRP3
microcephaly and chorioretinopathy, autosomal recessive, type 3 (MCCRP-3)
616335
AR
-
-
TUBGCP4
-
-
05153
MCPH
microcephaly, primary, autosomal recessive (MCPH)
-
-
8
8
CEP152, MCPH1, MFSD2A, WDFY3
-
-
00393
MCPH1
microcephaly, type 1, primary, autosomal recessive (MCPH-1)
251200
AR
5
5
MCPH1
-
-
04572
MRXS13
mental retardation, X-linked, syndromic, type 13 (MRX13)
300055
XLR
1
-
MECP2
-
-
00788
MRXSL
mental retardation, X-linked syndromic, Lubs type (MRXSL)
300260
XLR
1
-
MECP2
-
-
06803
MYP27
Myopia 27
618827
AD
-
-
CPSF1
-
-
05611
NDD
neurodevelopmental disorder (NDD)
-
-
3539
3354
ACBD6, ADARB1, AP1G1, ARFGEF1, ATP9A, CAMSAP1, CAPRIN1, CASP2, CHASERR, CPSF3L, DDB1, DENND5B, DHX30, DHX9, DOHH, DOT1L, EEFSEC, EIF2C1, EIF2C2, EIF4A2, 72 more
-
-
07057
NEDMLOB
neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities
620428
AR
-
-
CPSF3L
-
-
06101
PAMDDFS
Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures
618737
AR
-
-
TUBGCP2
-
-
03913
PHN
hypertension, pulmonary, neonatal, susceptibility to (PHN)
615371
-
2
2
CPS1
-
-
04187
POF
ovarian failure, premature (POF)
-
-
37
22
C14orf39, FOXL2, HFM1, MCM8, NOBOX, STAG3, SYCP2L
-
-
00066
RTT
Rett syndrome (RTT)
312750
XLD
42
1405
MECP2
-
-
02726
SPENCDI
Spondyloenchondrodysplasia, with immune dysregulation (SPENCDI)
607944
AR
10
10
ACP5
-
-
00325
SPG
paraplegia, spastic (SPG)
-
-
127
121
AMFR, CAPN1, DDHD2, HPDL, RNF170, SPAST, SPG11, TECPR2, TMEM63C
-
-
04430
SPG73
paraplegia, spastic?, autosomal dominant, type 73 (SPG-73)
616282
AD
-
-
CPT1C
-
-
05800
SPGF1
spermatogenic failure, type 1 (SPGF1)
258150
AR
-
-
SYCP2
-
-
02079
SPGF4
Pregnancy loss, recurrent, 4
270960
AD
1
1
SYCP3
-
-
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