Cp Results

MET

MET proto-oncogene, receptor tyrosine kinase
01/04/2019

CP

ceruloplasmin
03/28/2019

CPT1A

carnitine palmitoyltransferase 1A
10/25/2018

MECP2

methyl-CpG binding protein 2
05/02/2018

MCPH1

microcephalin 1
05/31/2017

CYP21A2

cytochrome P450 family 21 subfamily A member 2
07/17/2018

ACP5

acid phosphatase 5, tartrate resistant
10/22/2018

CPA4

carboxypeptidase A4
06/01/2017

ADAMTS2

ADAM metallopeptidase with thrombospondin type 1 motif 2
11/12/2018

BTRC

beta-transducin repeat containing E3 ubiquitin protein ligase
06/01/2017

TP63

tumor protein p63
05/31/2017

TECPR2

tectonin beta-propeller repeat containing 2
10/25/2018

SLX4

SLX4 structure-specific endonuclease subunit
03/08/2017

SH2D1A

SH2 domain containing 1A
06/01/2017

MFN2

mitofusin 2
05/31/2017

CPS1

carbamoyl-phosphate synthase 1
10/25/2018

CPN1

carboxypeptidase N subunit 1
10/18/2018

CPLANE1

ciliogenesis and planar polarity effector 1
10/16/2018

FBXW11

F-box and WD repeat domain containing 11
05/31/2017

EBP

EBP, cholestenol delta-isomerase
05/31/2017

hyperinsulinism due to UCP2 deficiency

MONDO_0017183 Condition
Hyperinsulinemic hypoglycemia due to UCP2 deficiency

obsolete T-complex locus TCP10B

MONDO_0008531 Condition

microcephaly 17, primary, autosomal recessive; MCPH17

MONDO_0014908 Condition
Microcephaly 17, Primary, Autosomal Recessive

portal hypertension, noncirrhotic; NCPH

MONDO_0014897 Condition
Portal Hypertension, Noncirrhotic

cerebral palsy, spastic quadriplegic, 3; CPSQ3

MONDO_0014862 Condition
Cerebral Palsy, Spastic Quadriplegic, 3

microcephaly 16, primary, autosomal recessive; MCPH16

MONDO_0014730 Condition
Microcephaly 16, Primary, Autosomal Recessive

CPD2

MONDO_0008942 Condition

atypical hemolytic-uremic syndrome with MCP/CD46 anomaly

MONDO_0013040 Condition
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, type 2

mcpherson robertson cammarano syndrome

MONDO_0043125 Condition