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Variant Pathogenicity
Th Results
Genes
181 Matches
Conditions
4731 Matches
Drugs
18926 Matches
CTH
/kb/genes/HGNC:2501
Gene
cystathionine gamma-lyase
11/12/2018
GLI2
/kb/genes/HGNC:4318
Gene
GLI family zinc finger 2
05/31/2017
SLC6A1
/kb/genes/HGNC:11042
Gene
solute carrier family 6 member 1
10/08/2018
PTHLH
/kb/genes/HGNC:9607
Gene
parathyroid hormone like hormone
01/10/2019
NAA15
/kb/genes/HGNC:30782
Gene
N(alpha)-acetyltransferase 15, NatA auxiliary subunit
02/27/2019
YTHDC1
/kb/genes/HGNC:30626
Gene
YTH domain containing 1
04/24/2019
TTC21B
/kb/genes/HGNC:25660
Gene
tetratricopeptide repeat domain 21B
10/18/2018
THRA
/kb/genes/HGNC:11796
Gene
thyroid hormone receptor alpha
05/31/2017
ACAT1
/kb/genes/HGNC:93
Gene
acetyl-CoA acetyltransferase 1
05/22/2018
SCN9A
/kb/genes/HGNC:10597
Gene
sodium voltage-gated channel alpha subunit 9
06/15/2018
MC2R
/kb/genes/HGNC:6930
Gene
melanocortin 2 receptor
05/31/2017
TTC37
/kb/genes/HGNC:23639
Gene
tetratricopeptide repeat domain 37
11/09/2018
NTHL1
/kb/genes/HGNC:8028
Gene
nth like DNA glycosylase 1
06/08/2017
ETHE1
/kb/genes/HGNC:23287
Gene
ETHE1, persulfide dioxygenase
04/08/2019
TH
/kb/genes/HGNC:11782
Gene
tyrosine hydroxylase
03/22/2019
MTHFR
/kb/genes/HGNC:7436
Gene
methylenetetrahydrofolate reductase
10/16/2018
SLC19A3
/kb/genes/HGNC:16266
Gene
solute carrier family 19 member 3
01/14/2019
AADACL3
/kb/genes/HGNC:32037
Gene
arylacetamide deacetylase like 3
AADACL4
/kb/genes/HGNC:32038
Gene
arylacetamide deacetylase like 4
ACOT11
/kb/genes/HGNC:18156
Gene
acyl-CoA thioesterase 11
Additional Gene Matches
hypertrophic cardiomyopathy
MONDO_0005045
Condition
Obstructive hypertrophic cardiomyopathy
familial thoracic aortic aneurysm and aortic dissection
MONDO_0019625
Condition
Familial TAAD
04/10/2017
Noonan syndrome with multiple lentigines
MONDO_0007893
Condition
Cardiomyopathic lentiginosis
07/25/2018
Noonan syndrome-like disorder with loose anagen hair
MONDO_0011899
Condition
Tosti syndrome
07/25/2018
undetermined early-onset epileptic encephalopathy
MONDO_0018614
Condition
Undetermined EOEE
01/17/2019
aneurysm-osteoarthritis syndrome
MONDO_0013426
Condition
Loeys-Dietz Syndrome type 3
01/07/2019
hypertrophic cardiomyopathy 10
MONDO_0012112
Condition
Cardiomyopathy, Familial Hypertrophic, type 10
01/11/2018
hyperparathyroidism-jaw tumor syndrome
MONDO_0007768
Condition
Hyperparathyroidism-2
04/19/2019
arrhythmogenic right ventricular dysplasia 9
MONDO_0012180
Condition
arrhythmogenic right ventricular cardiomyopathy 9
10/23/2017
hypertrophic cardiomyopathy 1
MONDO_0008647
Condition
hypertrophic cardiomyopathy type 1
01/11/2018
glycine encephalopathy
MONDO_0011612
Condition
Non-ketotic hyperglycinemia
12/12/2018
hypertrophic cardiomyopathy 3
MONDO_0007267
Condition
Cardiomyopathy, Familial Hypertrophic, type 3
01/11/2018
split hand-foot malformation 1 with sensorineural hearing loss
MONDO_0009080
Condition
SHFM1D
06/01/2017
Charcot-Marie-Tooth disease type 1A
MONDO_0007309
Condition
Microduplication 17p12
02/05/2018
hypertrophic cardiomyopathy 8
MONDO_0012111
Condition
cardiomyopathy hypertrophic mid-left ventricular chamber type 1
01/11/2018
2-methylbutyryl-CoA dehydrogenase deficiency
MONDO_0012392
Condition
SBCAD deficiency
03/22/2019
early infantile epileptic encephalopathy
MONDO_0016021
Condition
Early Infantile Epileptic Encephalopathy with Burst-Suppression
10/02/2018
arrhythmogenic right ventricular dysplasia 11
MONDO_0012506
Condition
Arrhythmogenic Right Ventricular Dysplasia, Familial, type 11
01/07/2019
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
MONDO_0009612
Condition
Methylmalonyl-CoA mutase deficiency
03/21/2018
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
Additional Condition Matches
potassium nitrate 0.05 MG/MG / Sodium Fluoride 0.011 MG/MG Toothpaste [Prevident 5000 Sensitive]
RXNORM:999717
Drug
Capsaicin 0.25 MG/ML / Menthol 100 MG/ML / methyl salicylate 150 MG/ML Topical Cream
RXNORM:283270
Drug
Guaifenesin 6 MG/ML / Theophylline 10 MG/ML [Theomar G.G.]
RXNORM:567156
Drug
Menthol 84 MG/ML / methyl salicylate 6 MG/ML / methylnicotinate 150 MG/ML Topical Spray
RXNORM:283267
Drug
Erythromycin / Zinc Acetate Topical Solution
RXNORM:379342
Drug
Menthol 0.08 MG/MG Topical Gel
RXNORM:283257
Drug
Aspirin / Promethazine / Pseudoephedrine
RXNORM:689540
Drug
Acetaminophen / Chlorpheniramine / Dextromethorphan / Pseudoephedrine Oral Product
RXNORM:1155230
Drug
Acetaminophen / Chlorpheniramine / Dextromethorphan Oral Product
RXNORM:1155233
Drug
Acetaminophen / Chlorpheniramine / Dextromethorphan Pill
RXNORM:1155234
Drug
Acetaminophen / Atropine / ethaverine / salicylamide
RXNORM:689557
Drug
Edetic Acid Ophthalmic Solution
RXNORM:379362
Drug
AK-Con-A Ophthalmic Product
RXNORM:1165910
Drug
Bendroflumethiazide 2.5 MG Oral Tablet
RXNORM:308614
Drug
Polyvinyl Alcohol Ophthalmic Solution [Tears Again Eye Drops]
RXNORM:1089800
Drug
Horse antihuman thymocyte gamma globulin Injectable Solution
RXNORM:379370
Drug
Anthralin / Coal Tar / Salicylic Acid Topical Ointment
RXNORM:379371
Drug
Clarithromycin Injectable Suspension
RXNORM:379375
Drug
Capsaicin 0.25 MG/ML / Menthol 10 MG/ML / methyl salicylate 120 MG/ML Topical Cream
RXNORM:283224
Drug
Piperonyl Butoxide 10 MG/ML / Pyrethrins 2 MG/ML Topical Spray
RXNORM:283223
Drug
Additional Drug Matches
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