Global Variome shared LOVD
NPPA (natriuretic peptide A)
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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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^p.(Arg
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Date
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Date
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Date
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Date
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Date
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combination
Date
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Numeric
23
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Numeric
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Numeric
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62 entries on 1 page. Showing entries 1 - 62.
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How to query
ID
Abbreviation
Name
OMIM ID
Inheritance
Individuals
Phenotypes
Associated with genes
Associated tissues
Disease features
00600
-
nevus, epidermal
162900
-
1
1
FGFR3, HRAS, NRAS, PIK3CA
-
-
02450
-
hyperthyroidism, familial gestational
603373
-
-
-
TSHR
-
-
02827
-
Hyperthyroidism, nonautoimmune
609152
AD
-
-
TSHR
-
-
03730
-
CFHR5 deficiency
614809
AD
-
-
CFHR5
-
-
01838
AHUS1
hemolytic-uremic syndrome, atypical, type 1 (AHUS1)
235400
AD;AR
-
-
CFH, CFHR1, CFHR3
-
-
01640
ALUNC
alopecia universalis
203655
AR
-
-
HR
-
-
01674
APL
atrichia with papular lesions
209500
AR
-
-
HR
-
-
00395
ARMD1
macular degeneration, age-related, type 1 (ARMD-1)
603075
AD
-
-
APOE, CFHR1, CFHR3, HMCN1, PLEKHA1
-
-
06255
BAIPRCK
Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT
191800
AR
-
-
CHRNA3
-
-
03591
Barrett esophagus
Barrett esophagus / esophageal adenocarcinoma
614266
-
4
4
ASCC1, CTHRC1, MSR1
-
-
05342
CAKUT
kidney and urinary tract, anomalies, congenital (CAKUT)
-
-
212
212
CHRNA3, DSTYK, FOXD2, SLIT3, TBX18
-
-
00315
cancer, bladder
cancer, bladder
109800
-
63
63
FGFR3, HRAS, KRAS, RB1
-
-
05461
CDG
glycosylation, congenital disorder of (CDG)
-
-
86
82
CAMLG, DHRSX, EDEM3, MAN2C1, MOGS, NUS1, SLC39A8, STT3A, STT3B, UGGT1
-
-
07130
CDG1DD
glycosylation, congenital disorder of, type 1DD
301133
-
-
-
DHRSX
-
-
02104
CHNG1
hypothyroidism, congenital, nongoitrous, type 1 (CHNG1)
275200
AR
-
-
TSHR
-
-
03651
CHNG6
hypothyroidism, congenital, nongoitrous, type 6 (CHNG6)
614450
AD
-
-
THRA
-
-
05906
CHNG7
hypothyroidism, congenital, nongoitrous, type 7 (CHNG7)
618573
AR
-
-
TRHR
-
-
04412
CHRNA7
schizophrenia, neurophysiologic defect in (CHRNA-7)
118511
-
-
-
CHRNA7
-
-
01343
CMNS
nevus syndrome, melanocytic, congenital, somatic
137550
-
-
-
HRAS, NRAS
-
-
00570
CMS1A
myasthenic syndrome, congenital, type 1A, slow-channel (CMS-1A)
601462
AD
1
1
CHRNA1
-
-
00571
CMS1B
myasthenic syndrome, congenital, type 1B, fast-channel (CMS-1B)
608930
AD;AR
-
-
CHRNA1
-
-
04313
CMS2A
myasthenic syndrome, congenital, type 2A, slow-channel (CMS-2A)
616313
AD
1
-
CHRNB1
-
-
04314
CMS2C
myasthenic syndrome, congenital, type 2C, associated with acetylcholine receptor deficiency (CMS-2C)
616314
AR
1
1
CHRNB1
-
-
04315
CMS3A
myasthenic syndrome, congenital, type 3A, slow-channel (CMS-3A)
616321
AD
-
-
CHRND
-
-
04316
CMS3B
myasthenic syndrome, congenital, type 3B, fast-channel (CMS-3B)
616322
AR
-
-
CHRND
-
-
04317
CMS3C
myasthenic syndrome, congenital, type 3C, associated with acetylcholine receptor deficiency (CMS-3C)
616323
AR
-
-
CHRND
-
-
04318
CMS4A
myasthenic syndrome, congenital, type 4A, slow-channel (CMS-4A)
605809
AD;AR
2
2
CHRNE
-
-
04319
CMS4B
myasthenic syndrome, congenital, type 4B, fast-channel (CMS-4B)
616324
AR
-
-
CHRNE
-
-
01002
CMS4C
myasthenic syndrome, congenital, type 4C, associated with acetylcholine receptor deficiency (CMS-4C)
608931
AR
11
-
CHRNE
-
-
03382
CORD15
dystrophy, cone-rod, type 15 (CORD-15)
613660
AR
-
-
CDHR1
-
-
01725
CSTLO
Costello syndrome (CSTLO, myopathy with excess of muscle spindles )
218040
AD
5
5
HRAS
-
-
04411
ENFL1
epilepsy, frontal lobe, nocturnal, type 1 (ENFL-1)
600513
AD
1
1
CHRNA4
-
-
02545
ENFL3
epilepsy, frontal lobe, nocturnal, type 3 (ENFL-3)
605375
-
-
-
CHRNB2
-
-
02931
ENFL4
epilepsy, frontal lobe, nocturnal, type 4 (ENFL-4)
610353
AD
1
1
CHRNA2
-
-
00875
EVMPS
pterygium syndrome, multiple, Escobar type (EVMPS)
265000
AR
21
21
CHRNG
-
-
00174
FH
hypercholesterolemia, familial (FH)
-
AD
2962
2944
ABCA1, APOA2, EPHX2, GHR, ITIH4, LDLR, PPP1R17
-
-
05708
FHCL1
hypercholesterolemia, familial, type 1 (FHCL1)
143890
AD
1
1
APOA2, EPHX2, GHR, LDLR
-
-
02489
GHIP
hormomen, growth, insensitivity, partial (GHIP)
604271
AD
-
-
GHR, GHSR
-
-
01584
GRTH
Thyroid hormone resistance, generalized, autosomal dominant
188570
AD
1
-
THRB
-
-
02095
GRTH
Thyroid hormone resistance, generalized, autosomal recessive
274300
AR
-
-
THRB
-
-
01388
HH7
hypogonadism, hypogonadotropic, type 7 (HH7)
146110
AR
4
4
FGFR1, FSHB, GNRH1, GNRHR, WDR11
-
-
01393
HYPT4
hypotrichosis, type 4 ((HYPT-4) Marie Unna hereditary hypotrichosis)
146550
AD
-
-
HR
-
-
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
-
-
01008
IGHD1B
growth hormone deficiency, isolated, type IB (IGHD-1B)
612781
-
21
-
GH1, GHRHR
-
-
06761
IGHD4
Growth hormone deficiency, isolated, type IV
618157
AR
-
-
GHRHR
-
-
02017
Laron
Laron syndrome
262500
AR
46
46
GHR
-
-
00572
LMPS
multiple pterygium syndrome, lethal type (LMPS )
253290
AR
16
16
CHRNA1, CHRND, CHRNG
-
-
04410
MGC1
megalocornea, type 1, X-linked (MGC-1)
309300
XLR
-
-
CHRDL1
-
-
01586
nicotine
addiction, nicotine, susceptibility to
188890
-
13
-
CHRNA4, CYP2A6, GABBR2, SLC6A3
-
-
00554
NMTC2
cancer, thyroid, nonmedullary, type 2 (NMTC-2, follicular)
188470
AD;SMu
-
-
HRAS, MINPP1, NRAS, PTEN, SRGAP1
-
-
00030
ODG1
dysgenesis, ovarian, type 1
233300
AR
16
15
FSHR
-
-
02737
OHSS
ovarian hyperstimulation syndrome
608115
AD
1
1
FSHR
-
-
00868
PBS;EGBRS
Prune belly syndrome (PBS, Eagle-Barrett syndrome)
100100
AR
-
-
CHRM3
-
-
02007
PMDS
Mullerian duct syndrome. persistent, types I and II (PMDS)
261550
AR
1
1
AMH, AMHR2
-
-
01384
PRTH
Thyroid hormone resistance, selective pituitary
145650
AD
-
-
THRB
-
-
05704
RP85
retinitis pigmentosa, type 85 (RP85)
618345
AR
-
-
AHR
-
-
01067
SDSX
Stocco dos Santos X-linked mental retardation syndrome (SDSX)
300434
XL
106
106
SHROOM4
-
-
00684
SFM
Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic
163200
-
-
-
HRAS, KRAS, NRAS
-
-
05259
SQTL
smoking, quantitative trait locus (SQTL)
-
-
2
2
CHRNA3
-
-
03083
SQTL3
smoking, quantitative trait locus 3 (SQTL-3)
612052
-
-
-
CHRNA3, CHRNA5
-
-
03262
THPH11
Thrombophilia due to HRG deficiency
613116
AD
-
-
HRG
-
-
02110
twinning
twinning, dizygotic
276400
AR
-
-
FSHR
-
-
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