TRA Results

RAD51D

RAD51 paralog D
10/09/2019

MED12

mediator complex subunit 12
10/10/2018

TRAPPC10

trafficking protein particle complex 10
05/31/2017

TRAPPC9

trafficking protein particle complex 9
09/11/2017

CD40LG

CD40 ligand
04/08/2020

ACP5

acid phosphatase 5, tartrate resistant
10/22/2018

MED13L

mediator complex subunit 13 like
08/22/2019

TRAPPC2

trafficking protein particle complex 2
08/22/2019

SLC36A2

solute carrier family 36 member 2
03/13/2020

HTRA3

HtrA serine peptidase 3

HTRA2

HtrA serine peptidase 2

HTRA1

HtrA serine peptidase 1

CAPN5

calpain 5

HTRA4

HtrA serine peptidase 4

ARHGEF11

Rho guanine nucleotide exchange factor 11

EAF2

ELL associated factor 2

COA3

cytochrome c oxidase assembly factor 3

ATRAID

all-trans retinoic acid induced differentiation factor

MED1

mediator complex subunit 1

KNSTRN

kinetochore localized astrin (SPAG5) binding protein

ornithine carbamoyltransferase deficiency

MONDO_0010703 Condition
Ornithine carbamoyltransferase deficiency
10/29/2019

creatine transporter deficiency

MONDO_0010305 Condition
CEREBRAL CREATINE DEFICIENCY SYNDROME 1
02/10/2020

carnitine palmitoyl transferase 1A deficiency

MONDO_0009705 Condition
hepatic carnitine palmitoyl transferase 1 deficiency
10/25/2018

guanidinoacetate methyltransferase deficiency

MONDO_0012999 Condition
Cerebral Creatine Deficiency Syndrome type 2
01/25/2019

intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome

MONDO_0014606 Condition
Mental Retardation, Autosomal Dominant type 37
03/09/2020

Kleefstra syndrome

MONDO_0012455 Condition
9q-syndrome
06/07/2018

transcobalamin II deficiency

MONDO_0010149 Condition
Transcobalamin II deficiency
05/31/2017

carnitine palmitoyltransferase II deficiency

MONDO_0015515 Condition
CPTII
03/27/2018

carnitine-acylcarnitine translocase deficiency

MONDO_0008918 Condition
CACT deficiency
05/22/2018

cholestasis, progressive familial intrahepatic, 4

MONDO_0014381 Condition
Cholestasis, Progressive Familial Intrahepatic, type 4
10/15/2018

06/01/2017

severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome

MONDO_0014034 Condition
Mental Retardation, Autosomal Dominant type 18
08/28/2019

congenital anomaly of kidney and urinary tract

MONDO_0019719 Condition
Congenital anomalies of kidney and urinary tract
11/18/2016

ornithine translocase deficiency

MONDO_0009393 Condition
Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) syndrome
12/04/2019

lethal congenital contracture syndrome 3

MONDO_0012656 Condition
Lethal Congenital Contracture Syndrome type 3
05/31/2017

glycine N-methyltransferase deficiency

MONDO_0011698 Condition
Glycine N-methyltransferase deficiency
05/10/2019

09/13/2019

succinyl-CoA:3-ketoacid CoA transferase deficiency

MONDO_0009492 Condition
OXCT1 deficiency
05/31/2017

transient infantile hypertriglyceridemia and hepatosteatosis

MONDO_0013771 Condition
Transient infantile hypertriglyceridemia and fatty liver
10/17/2018

06/18/2019