Global Variome shared LOVD
RNASET2 (ribonuclease T2)
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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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1559 entries on 16 pages. Showing entries 1 - 100.
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ID
Abbreviation
Name
OMIM ID
Inheritance
Individuals
Phenotypes
Associated with genes
Associated tissues
Disease features
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
226
191
CDH1, MLH3, MSH3, MSH6, PTEN
-
-
00511
-
asthma, susceptibility to
600807
AD
1
1
ADRB2, ALOX5, CCL11, HLA-G, HNMT, IL13, MUC7, PHF11, PLA2G7, SCGB3A2, TNF
-
-
00536
-
angiopathy, amyloid, cerebral, CST3-related (Icelandic type, amyloidosis type VI)
105150
AD
1
1
CST3
-
-
00557
-
Cousin syndrome
260660
AR
-
-
TBX15
-
-
00879
-
ulna and fibula, absence of, with severe limb deficiency
276820
AR
-
-
WNT7A
-
-
00880
-
Fuhrmann syndrome
228930
AR
-
-
WNT7A
-
-
00933
-
leukemia, acute, lymphoblastic
-
-
30
30
PTPN11
-
-
01103
-
Leukemia, acute promyelocytic, PL2F/RARA type
-
-
-
-
ZBTB16
-
-
01104
-
Skeletal defects, genital hypoplasia, and mental retardation
612447
AR
2
1
ZBTB16
-
-
01173
-
amyloidosis, hereditary, transthyretin-related
105210
AD
613
613
TTR
-
-
01175
-
sclerosis, lateral, amyotrophic/Parkinsonism/dementia complex 1
105500
AD
-
-
TRPM7
-
-
01242
-
dementia, familial, Danish
117300
AD
-
-
ITM2B
-
-
01282
-
Dermatopathia pigmentosa reticularis
125595
AD
-
-
KRT14
-
-
01310
-
epidermolysis bullosa, simplex, simplex, Weber-Cockayne type
131800
AD
-
-
ITGB4, KRT14, KRT5
-
-
01312
-
Epidermolysis bullosa simplex, Koebner type
131900
AD
-
-
KRT14, KRT5
-
-
01438
-
dysplasia, metatrophic
156530
AD
4
-
TRPV4
-
-
01444
-
Mullerian aplasia and hyperandrogenism
158330
AD
-
-
WNT4
-
-
01490
-
dwarfism, parastremmatic
168400
AD
-
-
TRPV4
-
-
01501
-
periodontitis 1, juvenile
170650
AR
-
-
CTSC
-
-
01522
-
dementia, familial, British
176500
AD
-
-
ITM2B
-
-
01562
-
myopathy, spheroid body
182920
AD
-
-
MYOT
-
-
01566
-
dysplasia, spondyloepiphyseal, Maroteaux type
184095
AD
-
-
TRPV4
-
-
01568
-
Steatocystoma multiplex
184500
AD
-
-
KRT17
-
-
01643
-
aciduria, alpha-methylacetoacetic
203750
AR
2
2
ACAT1
-
-
01670
-
asthma, nasal polyps, and aspirin intolerance
208550
AR
-
-
PTGER2, TBX21
-
-
01673
-
atransferrinemia
209300
AR
3
3
TF
-
-
01675
-
SCID due to absent class II HLA antigens
209920
AR
-
-
CIITA, RFX5, RFXANK, RFXAP
-
-
01735
-
cystathioninuria
219500
AR
-
-
CTH
-
-
01736
-
Cystinosis, ocular nonnephropathic
219750
-
-
-
CTNS
-
-
01738
-
cystinosis, late-onset juvenile or adolescent nephropathic
219900
-
2
1
CTNS
-
-
01742
-
aciduria, D-glyceric
220120
AR
-
-
GLYCTK
-
-
01765
-
ectopia lentis et pupillae
225200
AR
7
1
ADAMTSL4
-
-
01771
-
Enterokinase deficiency
226200
AR
1
1
TMPRSS15
-
-
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
-
-
01791
-
glutamate formiminotransferase deficiency
229100
AR
-
-
FTCD
-
-
01845
-
homocysteinemia, due to deficiency of MTHFR
236250
AR
-
-
MTHFR
-
-
01876
-
Slow acetylator due to N-acetyltransferase enzyme variant
243400
AR
-
-
NAT2
-
-
01890
-
growth hormone insensitivity with immunodeficiency
245590
-
8
8
STAT5B
-
-
01892
-
deficiency, lecithin:cholesterol acyltransferase (Norum disease)
245900
AR
-
-
LCAT
-
-
01917
-
methionine adenosyltransferase deficiency
250850
AD;AR
1
1
MAT1A
-
-
01955
-
carnitine palmitoyltransferase II deficiency, late-onset
255110
AD;AR
2
2
CPT2
-
-
02002
-
Parkinson-dementia syndrome
260540
AR
-
-
MAPT
-
-
02041
-
anemia, hemolytic , due to uridine 5-prime monophosphate hydrolase deficiency
266120
AR
-
-
NT5C3
-
-
02052
-
acidosis, tubular, renal, with progressive nerve deafness
267300
AR
-
-
ATP6V1B1
-
-
02103
-
hormone deficiency, thyrotropin-releasing
275120
AR
-
-
TRH
-
-
02105
-
dermopathy, restrictive, lethal
275210
AR
-
-
LMNA, ZMPSTE24
-
-
02106
-
Transcobalamin II deficiency
275350
AR
-
-
TCN2
-
-
02149
-
HPRT-related gout
300323
XLR
1
1
HPRT1
-
-
02206
-
Olmsted syndrome, X-linked
300918
XLR
-
-
MBTPS2
-
-
02279
-
deafness, aminoglycoside-induced
580000
Mi
-
-
TRMU
-
-
02297
-
Helicobacter pylori infection, susceptibility to
600263
-
-
-
IFNGR1, PTPRZ1
-
-
02308
-
CPT II deficiency, infantile
600649
AR
3
3
CPT2
-
-
02450
-
hyperthyroidism, familial gestational
603373
-
-
-
TSHR
-
-
02511
-
Pyogenic arthritis, pyoderma gangrenosum and acne
604416
AD
-
-
PSTPIP1
-
-
02519
-
Bare lymphocyte syndrome type 1
604571
AR
-
-
TAP1, TAP2, TAPBP
-
-
02540
-
macrocephaly/autism syndrome
605309
AD
2
1
PTEN
-
-
02570
-
transaldolase deficiency
606003
AR
1
1
TALDO1
-
-
02593
-
Glycine N-methyltransferase deficiency
606664
AR
-
-
GNMT
-
-
02669
-
arthritis, psoriatic, susceptibility to
607507
-
-
-
LTA
-
-
02727
-
Mycobacterium tuberculosis, susceptibility to
607948
-
-
-
CCL2, CD209, CISH, IFNG, IFNGR1, IRGM, MC3R, SLC11A1, SP110, TIRAP, TLR2
-
-
02763
-
Legionellosis
608556
-
-
-
TLR5
-
-
02782
-
AICA-ribosiduria due to ATIC deficiency
608688
AR
-
-
ATIC
-
-
02785
-
Spondyloepimetaphyseal dysplasia Matrilin-3 related
608728
AR
1
1
MATN3
-
-
02798
-
CPT II deficiency, lethal neonatal
608836
AR
-
-
CPT2
-
-
02827
-
Hyperthyroidism, nonautoimmune
609152
AD
-
-
TSHR
-
-
02848
-
Epidermolysis bullosa simplex with migratory circinate erythema
609352
-
-
-
KRT5
-
-
02982
-
Immunodeficiency due to defect in mapbp-interacting protein
610798
AR
-
-
LAMTOR2
-
-
03217
-
Leukoencephalopathy, cystic, without megalencephaly
612951
AR
-
-
RNASET2
-
-
03260
-
macrothrombocytopenia, autosomal dominant, TUBB1-related
613112
AD
2
2
TUBB1
-
-
03281
-
dystrophy, muscular, congenital, due to integrin alpha-7 deficiency
613204
AR
-
-
ITGA7
-
-
03345
-
liposarcoma, myxoid
613488
-
-
-
DDIT3
-
-
03455
-
Multisystemic smooth muscle dysfunction syndrome
613834
-
-
-
ACTA2
-
-
03464
-
Inosine triphosphatase deficiency
613850
-
-
-
ITPA
-
-
03465
-
Fucosyltransferase 6 deficiency
613852
-
-
-
FUT6
-
-
03525
-
Leukotriene c4 synthase deficiency
614037
AR
-
-
LTC4S
-
-
03526
-
Emberger syndrome
614038
AD
8
8
GATA2
-
-
03564
-
Thromboxane synthetase deficiency
614158
-
-
-
TBXAS1
-
-
03700
-
fever, periodic, menstrual cycle-dependent
614674
AD
-
-
HTR1A
-
-
04006
-
Melioidosis, susceptibility to
615557
-
-
-
TLR5
-
-
04158
-
alpha-actinin-3 deficiency
102574
AR
2
2
ACTN3
-
-
04159
-
anhidrosis
-
-
1
1
ITPR2
-
-
04214
-
retinal disease
-
-
48178
45681
ADAM9, AGBL5, ARL2BP, BBS2, C8orf37, IFT43, KIF3B, MERTK, PDE6G, REEP6, SCAPER, USH2A, ZNF408
-
-
04551
-
cirrhosis, cryptogenic, susceptibility to
215600
AR
-
-
KRT18, KRT8
-
-
05233
-
lipodystrophy, congenital, and fatty liver disease
-
-
2
2
PCYT1A
-
-
06409
-
[Bombay phenotype]
616754
AR
-
-
FUT1
-
-
06858
-
?Hemolytic anemia, congenital, X-linked
301015
XLR
-
-
ATP11C
-
-
00969
AAAS
achalasia-addisonianism-alacrimia syndrome
231550
AR
20
20
AAAS, TMEM48
cerebellum
adrenal insufficiency, dysphagia/achalasia, no hyporeflexia, developmental delay, alacrima
07104
AAAS2
achalasia-addisonianism-alacrimia syndrome, type 2
-
AR
-
-
TMEM48
-
no adrenal insufficiency, dysphagia/achalasia, polyneuropathy, hyporeflexia, developmental delay, alacrima, no postural hypotension, no sexual dysfunction
03057
AAT6
aneurysm, aortic, thoracic, familial, type 6 (AAT6)
611788
AD
4
1
ACTA2
-
autosomal dominant
02220
ABERS
Abruzzo Erickson syndrome (ABERS)
302905
XL
-
-
TBX22
-
-
01617
ABL
abetalipoproteinaemia (ABL)
200100
AR
49
49
MTTP
-
-
03533
ACAT2D
acetyl-CoA acetyltransferase-2 deficiency (ACAT2D)
614055
IC
-
-
ACAT2
-
-
03547
ACATALASIA
acatalasemia
614097
-
-
-
CAT
-
-
05479
ACG
achondrogenesis (ACG)
-
-
1
1
COL2A1, SLC26A2, TRIP11
-
-
01619
ACG1A
achondrogenesis, type IA (ACG1A)
200600
AR
1
1
TRIP11
-
-
04230
ACHM
achromatopsia (ACHM)
-
-
105
104
ATF6, CNGA3, CNGB3, GNAT2, PDE6C, PDE6H
-
-
03469
ACHM4
achromatopsia, type 4 (ACHM-4)
613856
-
-
-
GNAT2
-
-
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