Global Variome shared LOVD
TAF1 (TAF1 RNA polymerase II, TATA box binding prot...)
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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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Date
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Date
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Date
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Numeric
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59 entries on 1 page. Showing entries 1 - 59.
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How to query
ID
Abbreviation
Name
OMIM ID
Inheritance
Individuals
Phenotypes
Associated with genes
Associated tissues
Disease features
01310
-
epidermolysis bullosa, simplex, simplex, Weber-Cockayne type
131800
AD
-
-
ITGB4, KRT14, KRT5
-
-
01670
-
asthma, nasal polyps, and aspirin intolerance
208550
AR
-
-
PTGER2, TBX21
-
-
01774
-
epidermolysis bullosa, junctional, non-Herlitz type
226650
AR
1
1
COL17A1, ITGB4, LAMA3, LAMB3, LAMC2
-
-
01777
-
epidermolysis bullosa, junctional, with pyloric atresia
226730
AR
1
1
ITGA6, ITGB4
-
-
03281
-
dystrophy, muscular, congenital, due to integrin alpha-7 deficiency
613204
AR
-
-
ITGA7
-
-
04527
AI1H
amelogenesis imperfecta, type IH (AI1H)
616221
AR
-
-
ITGB6
-
-
02740
AITD
thyroid disease, autoimmune, susceptibility to (AITD)
608175
-
-
-
TG, ZFAT
-
susceptibility
00190
ARCI1
ichthyosis, congenital, autosomal recessive, type 1 (ARCI-1)
242300
AR
155
140
TGM1
-
-
00192
ARCI2
ichthyosis, congenital, autosomal recessive, type 2 (ARCI-2)
242100
AR
3
3
ALOX12B, TGM1
-
-
01182
ARVD1
dysplasia, arrhythmogenic right ventricular, type 1 (ARVD-1)
107970
AD
-
-
TGFB3
-
-
02645
ASRT1
asthma-related traits, susceptibility to, type 1 (ASRT-1)
607277
-
-
-
PTGDR
-
-
01576
BDPLT16
bleeding disorder, platelet, type 16
187800
AD
-
-
ITGA2B
-
-
07096
BDPLT24
bleeding disorder, platelet, type 24
619271
AD
-
-
ITGB3
-
-
03579
BDPLT9
bleeding disorder, platelet type 9 (BDPLT-9)
614200
-
-
-
ITGA2
-
-
05692
BRWS
Baraitser-Winter syndrome (BRWS)
-
-
42
42
ACTB, ACTG1
-
-
01012
BRWS2
Baraitser-Winter syndrome, type 2 (BRWS2)
614583
AD
4
4
ACTG1
-
-
01305
CAEND;DPD1
Camurati-Engelmann disease (CAEND, dysplasia, diaphyseal, progressive type 1 (DPD-1))
131300
AD
-
-
TGFB1
-
-
00882
cancer, esophageal
cancer, esophageal
133239
-
9
1
DCC, DEC1, DLEC1, LZTS1, RNF6, TGFBR2, WWOX
-
-
05031
CATMANS
Catel-Manzke syndrome (CATMANS)
616145
AR
4
4
KYNU, TGDS
-
-
00462
CDA
dystrophy, cornea, Avellino type (CDA)
607541
AD
8
8
TGFBI
-
-
00460
CDGG1
dystrophy, corneal, Groenouw type I (CDGG-1)
121900
AD
5
5
TGFBI
-
-
00465
CDL3A
dystrophy, corneal, lattice type IIIA (CDL-3A)
608471
AD
18
18
TGFBI
-
-
00464
CDRB;CDB1
dystrophy, corneal, Reis-Bucklers type (CDRB, corneal dystrophy of Bowman layer type 1 (CDB-1))
608470
-
10
9
TGFBI
-
-
00463
CDTB;CDB2
dystrophy, corneal, Thiel-Behnke type (CDTB, corneal dystrophy of Bowman layer type2 (CDB-2))
602082
AD
5
4
TGFBI
-
-
00128
CF
cystic fibrosis (CF)
219700
AR
562
554
CFTR, FCGR2A, TGFB1
-
-
01011
DFNA20;DFNA26
deafness, autosomal dominant, type 20/26 (DFNA-20;DFNA-26)
604717
AD
14
5
ACTG1
-
-
01266
EBMD
dystrophy, corneal, epithelial basement membrane (EBMD)
121820
AD
1
1
TGFBI
-
-
00104
EHT
hypertension, essential, susceptibility to (EHT)
145500
Mu
2
388
ADD1, AGT, AGTR1, ATP1B1, CYP3A5, ECE1, GNB3, NOS2, NOS3, PTGIS, RGS5, SELE
-
-
07095
GT1
thrombasthenia, Glanzmann's, type 1
273800
AR
-
-
ITGA2B
-
-
02093
GT2;BDPLT23
thrombasthenia, Glanzmann's, type 2
619267
AR
2
2
ITGB3
-
-
05464
HNPCC (Lynch)
cancer, colorectal, nonpolyposis, hereditary (Lynch syndrome)
-
-
1602
629
EPCAM, MLH1, MLH3, MSH2, MSH6, PMS2, TGFBR2
-
-
00881
HNPCC6
cancer, colorectal, nonpolyposis, hereditary, type 6 (HNPCC-6)
614331
-
-
-
TGFBR2
-
-
00438
HPE
holoprosencephaly (HPE)
236100
-
15
14
GLI2, SHH, SIX3, TGIF1, ZIC2
-
-
01369
HPE4
holoprosencephaly, type 4 (HPE-4)
142946
AD
-
-
TGIF1
-
-
03008
IBD10
bowel disease, inflammatory, type 10 (IBD-10)
611081
-
-
-
ATG16L1
-
-
06431
IBDIMDE
Inflammatory bowel disease, immunodeficiency, and encephalopathy
618213
AR
-
-
TGFB1
-
-
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
-
-
03722
ILNEB
lung disease, interstitial, nephrotic syndrome, and epidermolysis bullosa, congenital (ILNEB)
614748
AR
2
2
ITGA3
-
-
06956
LAD
leukocyte adhesion deficiency
-
-
432
432
FERMT3, ITGB2
-
-
01240
LAD1
leukocyte adhesion deficiency, type I
116920
AR
1
1
ITGB2
-
-
00461
LCD1
dystrophy, corneal, lattice type I (LCD-1)
122200
AD
24
24
TGFBI
-
-
00884
LDS
Loeys-Dietz syndrome (LDS)
-
-
54
53
SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
-
-
02831
LDS1
Loeys-Dietz syndrome, type 1 (LDS-1)
609192
AD
16
13
TGFBR1
-
-
00883
LDS2
Loeys-Dietz syndrome, type 2 (LDS-2)
610168
AD
12
11
TGFBR2
-
autosomal dominant
00203
LDS4
Loeys-Dietz syndrome, type 4 (LDS_4)
614816
AD
4
3
TGFB2
-
hypertelorism (HP:0000316); bifid uvula (HP:0000193)/cleft palate (HP:0000175); exotropia (HP:0000577); no craniosynostosis (-HP:0001363); no cervical spine instability (-HP:0010646); retrognathia (HP:0000278); scoliosis (HP:0002650); club foot (HP:0001762); osteoarthritis (HP:0002758); dural ectasia (HP:0100775); pneumothorax (HP:0002107); hernia (HP:0100790); dissection at young age; arterial tortuosity (HP:0005116)
04015
LDS5;RNHF
Loeys-Dietz syndrome, type 5 (LDS-5, Rienhoff syndrome (RNHF))
615582
AD
2
2
TGFB3
-
hypertelorism (HP:0000316); bifid uvula (HP:0000193)/cleft palate (HP:0000175); exotropia (HP:0000577); no craniosynostosis (-HP:0001363); cervical spine instability (HP:0010646); retrognathia (HP:0000278); scoliosis (HP:0002650); club foot (HP:0001762); osteoarthritis (HP:0002758); no pneumothorax (-HP:0002107); hernia (HP:0100790); no arterial tortuosity (-HP:0005116)
02760
MCI1
myocardial infarction, susceptibility to, type 1 (MCI-1)
608446
-
41
2
ESR1, F13A1, F7, GCLC, GCLM, ITGB3, LGALS2, LTA, MIAT, OLR1, PSMA6, TNFSF4
-
-
05446
ML
mucolipidosis (ML)
-
-
10
10
GNPTAB, GNPTG
-
-
01931
ML3C
mucolipidosis, type III, gamma (ML-3C)
252605
AR
8
8
GNPTG
-
-
01319
MSSE
epithelioma, squamous, multiple self healing (MSSE)
132800
AD
-
-
TGFBR1
-
-
02876
PSS2
skin, peeling, syndrome, type 2 (PSS-2)
609796
AR
-
-
TGM5
-
-
01593
RHDA1
hypodysplasia/aplasia, renal, type 1 (RHDA1)
191830
AR
1
1
ITGA8
-
-
00216
SCA35
ataxia, spinocerebellar, type 35 (SCA-35)
613908
AD
1
1
TGM6
-
-
06705
SCAR25
?Spinocerebellar ataxia, autosomal recessive 25
617584
AR
-
-
ATG5
-
-
02887
SLEB6
lupus erythematosus, systemic, type 6 (SLEB-6)
609939
-
-
-
ITGAM
-
-
02099
TDH3
thyroid dyshormonogenesis, type 3 (TDH-3)
274700
AR
-
-
TG
-
-
05273
UHS
hair, uncombable syndrome (UHS)
-
-
11
11
PADI3, TCHH, TGM3
hair
-
05275
UHS2
hair, uncombable syndrome, type 2 (UHS-2)
617251
AR
-
-
TGM3
hair
-
01430
VSCM
myopathy, visceral (VSCM; megaduodenum and/or megacystis)
155310
AD
68
68
ACTG2
-
autosomal dominant
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