Global Variome shared LOVD
FOXE3 (forkhead box E3)
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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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6839 entries on 69 pages. Showing entries 1 - 100.
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ID
Abbreviation
Name
OMIM ID
Inheritance
Individuals
Phenotypes
Associated with genes
Associated tissues
Disease features
00069
-
Efavirenz, poor metabolism of
614546
-
-
-
CYP2B6
-
-
00250
-
rickets, hypophosphatemic, X-linked recessive
300554
XLR
2
2
CLCN5
-
-
00252
-
proteinuria, hypercalciuria, nephrocalcinosis
308990
XLR
4
4
CLCN5
-
-
00284
-
epilepsy, myoclonic, dystonia, hemiparesis, autonomic signs, lethargy, progressive diffuse cerebral atrophy
-
-
3
2
TBC1D24
-
-
00285
-
epilepsy, focal, dysarthria, intellectual disability, cortical thickening, cerebellar atrophy
-
-
7
5
TBC1D24
-
-
00423
-
cancer, endometrial
608089
AD;SMu
227
192
CDH1, MLH3, MSH3, MSH6, PTEN
-
-
00457
-
afibrinogenemia, congenital
202400
AR
3
3
FGA, FGB, FGG
-
-
00511
-
asthma, susceptibility to
600807
AD
1
1
ADRB2, ALOX5, CCL11, HLA-G, HNMT, IL13, MUC7, PHF11, PLA2G7, SCGB3A2, TNF
-
-
00521
-
meconium ileus
614665
AR
1
1
GUCY2C
-
-
00522
-
amyloidosis, visceral (type VIII)
105200
AD
3
2
APOA1, APOA2, B2M, FGA, LYZ
-
-
00536
-
angiopathy, amyloid, cerebral, CST3-related (Icelandic type, amyloidosis type VI)
105150
AD
1
1
CST3
-
-
00557
-
Cousin syndrome
260660
AR
-
-
TBX15
-
-
00566
-
Wolcott-Rallison syndrome
226980
AR
1
1
EIF2AK3
-
-
00593
-
RIDDLE syndrome
611943
AR
4
5
RNF168
-
-
00598
-
cancer, cervical, somatic
603956
-
5
5
FGFR3
-
-
00600
-
nevus, epidermal
162900
-
1
1
FGFR3, HRAS, NRAS, PIK3CA
-
-
00606
-
mitochondrial respiratory chain complex II deficiency
252011
AR
1
1
SDHA, SDHAF1, SDHD
-
-
00631
-
Guttmacher syndrome
176305
AD
-
-
HOXA13
-
-
00633
-
steroidogenesis, disordered, due to cytochrome P450 oxidoreductase deficiency
613571
-
-
-
POR
-
-
00649
-
SC phocomelia syndrome
269000
AR
3
3
ESCO2
-
-
00673
-
Scaphocephaly, maxillary retrusion, and mental retardation
609579
-
-
-
FGFR2
-
-
00698
-
Stickler sydrome, type I, nonsyndromic ocular
609508
AD
10
10
COL2A1
-
-
00699
-
dysplasia, Czech
609162
AD
5
4
COL2A1
-
-
00732
-
Stapes ankylosis with broad thumb and toes
184460
AD
6
6
NOG
-
-
00736
-
myotonia congenita, atypical, acetazolamide-responsive
608390
AD
11
4
SCN4A
-
-
00757
-
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
609528
AR
1
1
SNAP29
-
-
00787
-
encephalopathy, neonatal, severe
300673
XLR
13
26
MECP2
-
-
00808
-
Growth retardation with deafness and mental retardation due to IGF1 deficiency
608747
AR
9
9
IGF1
-
-
00862
-
Vohwinkel syndrome with ichthyosis
604117
AD
-
-
LOR
-
-
00879
-
ulna and fibula, absence of, with severe limb deficiency
276820
AR
-
-
WNT7A
-
-
00880
-
Fuhrmann syndrome
228930
AR
-
-
WNT7A
-
-
00889
-
C syndrome
211750
AD
-
-
CD96
-
-
00917
-
Oculodentodigital dysplasia, autosomal recessive
257850
AR
-
-
GJA1
-
-
00918
-
Hallermann-Streiff syndrome
234100
AR
-
-
GJA1
-
-
00927
-
cancer, colorectal, somatic
-
-
15
14
BRAF
-
-
00931
-
mesomelia-synostoses syndrome
-
XLD
-
-
SLCO5A1, SULF1
-
-
00933
-
leukemia, acute, lymphoblastic
-
-
30
30
PTPN11
-
-
00935
-
Birk-Barel mental retardation dysmorphism syndrome
612292
-
2
1
KCNK9
-
-
00938
-
Bamforth-Lazarus syndrome
241850
AR
-
-
FOXE1
-
-
00943
-
De Sanctis-Cacchione syndrome
278800
AR
-
-
ERCC6
-
-
00946
-
cardiomyopathy, hypertrophic, early-onset fatal
-
-
8
9
COX15
-
-
00950
-
dysplasia, craniofacial-skeletal-dermatologic
-
-
-
-
FGFR2
-
-
00951
-
Scaphocephaly and Axenfeld-Rieger anomaly
-
-
-
-
FGFR2
-
-
00959
-
dysplasia, otodental, chromsome deletion syndrome
-
-
-
-
FADD, FGF3
-
-
00967
-
Bowen-Conradi syndrome
211180
AR
-
-
EMG1
-
-
00968
-
Leukemia, acute myelogenous
-
-
-
-
KRAS
-
-
00971
-
vitreoretinopathy, with phalangeal epiphyseal dysplasia
-
-
-
-
COL2A1
-
-
00973
-
Melorheostosis with osteopoikilosis
155950
-
-
-
LEMD3
-
-
00980
-
hyperornithinemia-hyperammonemia-homocitrullinemia syndrome (HHH)
238970
AR
15
15
SLC25A15
-
-
00998
-
Miller-Dieker lissencephaly syndrome
-
-
-
-
PAFAH1B1
-
-
01005
-
melanoma, desmoplastic neurotrophic
-
-
-
-
NF1
-
-
01043
-
bleeding time, prolonged, brachydactyly and mental retardation
-
-
-
-
GNAS
-
-
01058
-
Proud syndrome
300004
XL
-
-
ARX
-
-
01076
-
Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis
-
-
3
5
COL4A5
-
-
01103
-
Leukemia, acute promyelocytic, PL2F/RARA type
-
-
-
-
ZBTB16
-
-
01104
-
Skeletal defects, genital hypoplasia, and mental retardation
612447
AR
2
1
ZBTB16
-
-
01117
-
mental retardation, X-linked syndromic, Fried type
300630
-
-
1
AP1S2
-
-
01121
-
agenesis, corpus callosum, with mental retardation, ocular coloboma and micrognathia
300472
XLR
-
-
IGBP1
-
-
01124
-
mental retardation, X-linked, syndromic, Martin-Probst type
300519
-
-
-
RAB40AL
-
-
01127
-
mental retardation, X-linked, with isolated growth hormone deficiency
300123
-
-
-
SOX3
-
-
01164
-
adenosine triphosphate, elevated
102900
AD
1
1
PKLR
-
-
01173
-
amyloidosis, hereditary, transthyretin-related
105210
AD
613
613
TTR
-
-
01175
-
sclerosis, lateral, amyotrophic/Parkinsonism/dementia complex 1
105500
AD
-
-
TRPM7
-
-
01206
-
blood group system, Rhesus system and polypeptide
111690
-
-
-
RHCE
-
-
01210
-
blood group system, antigen in Cartwright
112100
-
-
-
ACHE
-
-
01218
-
Burkitt lymphoma
113970
-
63
63
MYC
-
-
01222
-
tumor, carcinoid, intestinal
114900
-
1
-
SDHD
-
-
01242
-
dementia, familial, Danish
117300
AD
-
-
ITM2B
-
-
01254
-
Digital clubbing, isolated congenital
119900
AR
1
1
HPGD
-
-
01258
-
Coloboma of optic disc
120430
AD
-
-
PAX6
-
-
01282
-
Dermatopathia pigmentosa reticularis
125595
AD
-
-
KRT14
-
-
01283
-
diabetes insipidus, neurohypophyseal
125700
AD
-
-
AVP
-
-
01310
-
epidermolysis bullosa, simplex, simplex, Weber-Cockayne type
131800
AD
-
-
ITGB4, KRT14, KRT5
-
-
01311
-
epidermolysis bullosa, pretibial
131850
AD;AR
6
6
COL7A1
-
-
01312
-
Epidermolysis bullosa simplex, Koebner type
131900
AD
-
-
KRT14, KRT5
-
-
01315
-
epidermolysis bullosa, congenital localized absence of skin and nail deformity (EBD Bart type)
132000
AD
7
7
COL7A1
-
-
01318
-
Cylindromatosis, familial
132700
AD
-
-
CYLD
-
-
01321
-
erythromelalgia, primary
133020
AD
31
31
SCN9A
-
-
01339
-
fundus albipunctatus (retinitis punctata albescens (RPA))
136880
AD;AR
110
110
PRPH2, RDH5, RHO, RLBP1
-
-
01342
-
lymphoma, MALT, somatic
137245
-
-
-
BCL10
-
-
01358
-
hawkinsinuria
140350
AD
-
-
HPD
-
-
01364
-
hepatic adenoma, somatic
142330
-
-
-
HNF1A
-
-
01381
-
Hyperchylomicronemia, late-onset
144650
-
-
-
APOA5
-
-
01383
-
hyperostosis, endosteal (Worth disease)
144750
AD
2
-
LRP5
-
-
01395
-
ichthyosis vulgaris
146700
AD;AR
2
1
FLG
-
-
01401
-
sarcoma, Kaposi, susceptibility to
148000
AD
-
-
IL6
-
-
01404
-
keratoderma palmoplantar, deafness
148350
AD
1
1
GJB2
-
-
01421
-
anemia, macrocytic, refractory, due to 5q deletion, somatic
153550
-
-
-
RPS14
-
-
01433
-
melanoma astrocytoma syndrome
155755
AD
-
-
CDKN2A
-
-
01438
-
dysplasia, metatrophic
156530
AD
4
-
TRPV4
-
-
01444
-
Mullerian aplasia and hyperandrogenism
158330
AD
-
-
WNT4
-
-
01469
-
neutrophilia, hereditary
162830
-
-
-
CSF3R
-
-
01478
-
hypoplasia, optic nerve, bilateral
165550
AD
2
1
PAX6
-
-
01484
-
osteoporosis
166710
AD
36
6
CALCR, COL1A1, COL1A2, LRP5, PDLIM4, VDR
-
-
01490
-
dwarfism, parastremmatic
168400
AD
-
-
TRPV4
-
-
01498
-
Prolidase deficiency
170100
AR
-
-
PEPD
-
-
01499
-
Andersen syndrome
170390
AD
111
110
KCNJ2
-
-
01501
-
periodontitis 1, juvenile
170650
AR
-
-
CTSC
-
-
01520
-
Leydig cell adenoma, somatic, with precocious puberty
176410
-
-
-
LHCGR
-
-
01522
-
dementia, familial, British
176500
AD
-
-
ITM2B
-
-
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