CAT Results

CATSPER2

cation channel sperm associated 2
06/01/2017

TBX1

T-box 1
12/05/2017

IGHMBP2

immunoglobulin mu DNA binding protein 2
09/11/2017

TYRP1

tyrosinase related protein 1
06/01/2017

KHDC3L

KH domain containing 3 like, subcortical maternal complex member
05/31/2017

ACAT1

acetyl-CoA acetyltransferase 1
06/19/2018

ACAT2

acetyl-CoA acetyltransferase 2

ACOT9

acyl-CoA thioesterase 9

BCAT1

branched chain amino acid transaminase 1

BCAT2

branched chain amino acid transaminase 2

CAT

catalase

CATIP

ciliogenesis associated TTC17 interacting protein

CATSPER1

cation channel sperm associated 1

CATSPER3

cation channel sperm associated 3

CATSPER4

cation channel sperm associated 4

CATSPERB

cation channel sperm associated auxiliary subunit beta

CATSPERD

cation channel sperm associated auxiliary subunit delta

CATSPERE

catsper channel auxiliary subunit epsilon

CATSPERG

cation channel sperm associated auxiliary subunit gamma

CATSPERZ

catsper channel auxiliary subunit zeta

catecholaminergic polymorphic ventricular tachycardia 1

MONDO_0011484 Condition
catecholaminergic polymorphic ventricular tachycardia type 1
01/11/2018

cataract 18

MONDO_0012395 Condition
cataract 18 autosomal recessive
06/01/2017

05/31/2017

06/01/2017

congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome

MONDO_0013116 Condition
Congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome
06/01/2017

chondrodysplasia with joint dislocations, gPAPP type

MONDO_0013561 Condition
gPAPP deficiency
05/31/2017

Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome

MONDO_0009268 Condition
Cardiovascular Gaucher disease
01/10/2018

06/01/2017

catecholaminergic polymorphic ventricular tachycardia 2

MONDO_0012762 Condition
Ventricular Tachycardia, Catecholaminergic Polymorphic, type 2
05/31/2017

cataract 33

MONDO_0012665 Condition
cataract type 33

chromosome 3 duplication syndrome

MONDO_0022761 Condition

cataract 11 multiple types

MONDO_0012527 Condition
CTRCT11

partial duplication of the long arm of chromosome 2

MONDO_0016953 Condition
Partial duplication of chromosome 2q

cataract 21 multiple types

MONDO_0012437 Condition
cataract 21 multiple types with or without microcornea

obsolete cicatricial pemphigoid

MONDO_0006535 Condition

7q11.23 microduplication syndrome

MONDO_0012342 Condition
Dup(7)(q11.23)

cataract 22 multiple types

MONDO_0012336 Condition
CTRCT22

pramoxine Medicated Pad [Prax]

RXNORM:999721 Drug

chloroxylenol Medicated Bar Soap

RXNORM:1038960 Drug