SI Results

RYR2

ryanodine receptor 2
07/19/2019

SIX1

SIX homeobox 1
02/01/2018

ZEB2

zinc finger E-box binding homeobox 2
08/13/2019

LITAF

lipopolysaccharide induced TNF factor
02/05/2018

AP1S2

adaptor related protein complex 1 subunit sigma 2
08/22/2019

SLC17A5

solute carrier family 17 member 5
10/17/2018

SIX4

SIX homeobox 4
05/31/2017

ST3GAL5

ST3 beta-galactoside alpha-2,3-sialyltransferase 5
12/06/2017

SIM1

SIM bHLH transcription factor 1
05/31/2017

PEG10

paternally expressed 10
06/01/2017

SERPINB7

serpin family B member 7
06/01/2017

SIX3

SIX homeobox 3
08/13/2019

SIN3A

SIN3 transcription regulator family member A
01/13/2020

SIX6

SIX homeobox 6
05/31/2017

SIX5

SIX homeobox 5
08/23/2018

SIK1

salt inducible kinase 1
10/02/2018

KLHL41

kelch like family member 41
11/05/2019

01/10/2018

SI

sucrase-isomaltase
10/16/2018

C14orf39

chromosome 14 open reading frame 39

hereditary nonpolyposis colon cancer

MONDO_0018630 Condition
Familial nonpolyposis colon cancer
10/12/2018

peroxisome biogenesis disorder

MONDO_0019234 Condition
Zellweger spectrum
02/14/2020

autosomal recessive nonsyndromic deafness

MONDO_0019588 Condition
Autosomal recessive non-syndromic neurosensory deafness type DFNB
12/09/2018

08/13/2019

autosomal recessive limb-girdle muscular dystrophy

MONDO_0015152 Condition
limb-girdle muscular dystrophy, autosomal recessive
05/01/2020

multiple endocrine neoplasia type 1

MONDO_0007540 Condition
Multiple Endocrine Neoplasia, Type I
05/14/2020

BAP1-related tumor predisposition syndrome

MONDO_0013692 Condition
Tumor susceptibility linked to germline BAP1 mutations
12/27/2019

neurofibromatosis type 2

MONDO_0007039 Condition
Bilateral acoustic neurofibromatosis
08/14/2019

hereditary leiomyomatosis and renal cell cancer

MONDO_0007888 Condition
Familial leiomyomatosis and renal cell cancer
05/14/2020

MUTYH-related attenuated familial adenomatous polyposis

MONDO_0012041 Condition
MUTYH-related attenuated familial polyposis coli
05/08/2018

08/28/2019

congenital brain dysgenesis due to glutamine synthetase deficiency

MONDO_0012393 Condition
Inherited glutamine synthetase deficiency
06/29/2020

autosomal recessive nonsyndromic deafness 102

MONDO_0014428 Condition
DFNB102
02/06/2020

09/30/2019

classic homocystinuria

MONDO_0009352 Condition
Cystathionine beta-synthase deficiency
04/12/2019

vitamin B12-responsive methylmalonic acidemia type cblB

MONDO_0009614 Condition
methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type
03/21/2018

oligodontia-cancer predisposition syndrome

MONDO_0012075 Condition
Autosomal dominant ectodermal dysplasia-cancer predisposition syndrome
08/28/2019

vitamin B12-responsive methylmalonic acidemia type cblA

MONDO_0009613 Condition
methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cb1A type
03/21/2018

01/10/2018

intrinsic cardiomyopathy

MONDO_0000591 Condition
08/06/2018