Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	7276
Gene name Gene Name - the full gene name approved by the HGNC.	Transthyretin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	TTR
Synonyms (NCBI Gene) Gene synonyms aliases	ATTR, CTS, CTS1, HEL111, HsT2651, PALB, TBPA, TTN
Chromosome Chromosome number	18
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	18q12.1
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes one of the three prealbumins, which include alpha-1-antitrypsin, transthyretin and orosomucoid. The encoded protein, transthyretin, is a homo-tetrameric carrier protein, which transports thyroid hormones in the plasma and cerebrospinal f

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SNP ID	Visualize variation	Clinical significance	Consequence
rs11541790	C>T	Pathogenic	Missense variant, coding sequence variant
rs11541795	C>A,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs11541796	A>G	Pathogenic	Missense variant, coding sequence variant
rs11541797	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance, benign-likely-benign	Synonymous variant, coding sequence variant
rs28933979	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs28933981	C>T	Conflicting-interpretations-of-pathogenicity, benign-likely-benign, likely-benign, risk-factor	Coding sequence variant, missense variant
rs76992529	G>A	Pathogenic	Coding sequence variant, missense variant
rs79977247	T>C,G	Pathogenic	Coding sequence variant, missense variant
rs104894664	G>A	Pathogenic	Coding sequence variant, missense variant
rs104894665	T>C	Pathogenic	Coding sequence variant, missense variant
rs121918068	T>A,C	Pathogenic	Missense variant, coding sequence variant
rs121918069	T>A,G	Pathogenic	Missense variant, coding sequence variant
rs121918070	A>G	Pathogenic	Missense variant, coding sequence variant
rs121918071	C>A	Pathogenic	Missense variant, coding sequence variant
rs121918072	T>G	Pathogenic	Missense variant, coding sequence variant
rs121918073	C>A	Pathogenic	Missense variant, coding sequence variant
rs121918074	C>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign, benign	Missense variant, coding sequence variant
rs121918075	A>G	Pathogenic	Missense variant, coding sequence variant
rs121918076	T>A,C,G	Pathogenic	Missense variant, synonymous variant, coding sequence variant
rs121918077	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs121918079	T>C	Pathogenic	Missense variant, coding sequence variant
rs121918080	G>A,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs121918081	A>G	Pathogenic	Missense variant, coding sequence variant
rs121918082	G>C	Pathogenic	Missense variant, coding sequence variant
rs121918083	T>C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs121918084	T>C	Pathogenic	Missense variant, coding sequence variant
rs121918085	A>T	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs121918086	G>A	Pathogenic	Missense variant, coding sequence variant
rs121918087	C>G	Pathogenic	Missense variant, coding sequence variant
rs121918088	T>C	Pathogenic	Missense variant, coding sequence variant
rs121918089	A>G	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs121918090	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs121918091	T>C	Pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs121918092	C>T	Uncertain-significance, affects	Missense variant, coding sequence variant
rs121918093	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs121918094	T>C	Pathogenic	Missense variant, coding sequence variant
rs121918095	G>A	Benign-likely-benign, pathogenic, benign	Missense variant, coding sequence variant
rs121918096	GTC>-	Pathogenic	Inframe deletion, coding sequence variant
rs121918097	G>A	Pathogenic	Missense variant, coding sequence variant
rs121918098	A>G	Pathogenic	Missense variant, coding sequence variant
rs121918100	T>C	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs138657343	G>A	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs143906738	C>T	Benign-likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs267607160	A>C	Pathogenic	Missense variant, coding sequence variant
rs267607161	G>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs377052919	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs386134269	A>C,G	Likely-pathogenic	Missense variant, coding sequence variant
rs387906523	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs730881163	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs730881167	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs730881169	C>A,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs876658108	G>T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1254341785	C>T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs1555631387	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1555631390	->AGTCTG	Pathogenic	Inframe insertion, coding sequence variant
rs1555631393	G>A,C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1555631402	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1567945632	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1567945684	G>T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs1598844112	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1598844184	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1598844213	A>C	Pathogenic	Coding sequence variant, missense variant
rs1598845097	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1598845164	A>G	Likely-pathogenic	Coding sequence variant, missense variant

Show/Hide all(62)

miRTarBase ID	miRNA	Experiments	Reference
MIRT650579	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT650578	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT650577	hsa-miR-1976	HITS-CLIP	23824327
MIRT650576	hsa-miR-4279	HITS-CLIP	23824327
MIRT650575	hsa-miR-6869-5p	HITS-CLIP	23824327
MIRT650574	hsa-miR-512-5p	HITS-CLIP	23824327
MIRT626946	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT626945	hsa-miR-6777-3p	HITS-CLIP	23824327
MIRT626944	hsa-miR-1915-3p	HITS-CLIP	23824327
MIRT626943	hsa-miR-6764-5p	HITS-CLIP	23824327
MIRT626942	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT626941	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT626940	hsa-miR-2355-5p	HITS-CLIP	23824327
MIRT626946	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT626945	hsa-miR-6777-3p	HITS-CLIP	23824327
MIRT626944	hsa-miR-1915-3p	HITS-CLIP	23824327
MIRT626943	hsa-miR-6764-5p	HITS-CLIP	23824327
MIRT626942	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT626941	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT626940	hsa-miR-2355-5p	HITS-CLIP	23824327
MIRT532339	hsa-miR-590-3p	PAR-CLIP	22012620
MIRT532332	hsa-miR-411-5p	PAR-CLIP	22012620
MIRT532338	hsa-miR-6890-5p	PAR-CLIP	22012620
MIRT532337	hsa-miR-6872-3p	PAR-CLIP	22012620
MIRT532336	hsa-miR-4735-5p	PAR-CLIP	22012620
MIRT532335	hsa-miR-1273f	PAR-CLIP	22012620
MIRT532334	hsa-miR-6832-5p	PAR-CLIP	22012620
MIRT532333	hsa-miR-4775	PAR-CLIP	22012620
MIRT532332	hsa-miR-411-5p	PAR-CLIP	22012620
MIRT532331	hsa-miR-2113	PAR-CLIP	22012620
MIRT532330	hsa-miR-5010-3p	PAR-CLIP	22012620
MIRT650579	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT650578	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT650577	hsa-miR-1976	HITS-CLIP	23824327
MIRT650576	hsa-miR-4279	HITS-CLIP	23824327
MIRT650575	hsa-miR-6869-5p	HITS-CLIP	23824327
MIRT650574	hsa-miR-512-5p	HITS-CLIP	23824327
MIRT626946	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT626945	hsa-miR-6777-3p	HITS-CLIP	23824327
MIRT626944	hsa-miR-1915-3p	HITS-CLIP	23824327
MIRT626943	hsa-miR-6764-5p	HITS-CLIP	23824327
MIRT626942	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT626941	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT626940	hsa-miR-2355-5p	HITS-CLIP	23824327
MIRT626946	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT626945	hsa-miR-6777-3p	HITS-CLIP	23824327
MIRT626944	hsa-miR-1915-3p	HITS-CLIP	23824327
MIRT626943	hsa-miR-6764-5p	HITS-CLIP	23824327
MIRT626942	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT626941	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT626940	hsa-miR-2355-5p	HITS-CLIP	23824327
MIRT532339	hsa-miR-590-3p	PAR-CLIP	22012620
MIRT532332	hsa-miR-411-5p	PAR-CLIP	22012620
MIRT532338	hsa-miR-6890-5p	PAR-CLIP	22012620
MIRT532337	hsa-miR-6872-3p	PAR-CLIP	22012620
MIRT532336	hsa-miR-4735-5p	PAR-CLIP	22012620
MIRT532335	hsa-miR-1273f	PAR-CLIP	22012620
MIRT532334	hsa-miR-6832-5p	PAR-CLIP	22012620
MIRT532333	hsa-miR-4775	PAR-CLIP	22012620
MIRT532332	hsa-miR-411-5p	PAR-CLIP	22012620
MIRT532331	hsa-miR-2113	PAR-CLIP	22012620
MIRT532330	hsa-miR-5010-3p	PAR-CLIP	22012620

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GO ID	Ontology	Definition	Evidence	Reference
GO:0001523	Process	Retinoid metabolic process	IEA
GO:0003105	Process	Negative regulation of glomerular filtration	IEA
GO:0005179	Function	Hormone activity	IEA
GO:0005515	Function	Protein binding	IPI	986177, 16189514, 16716307, 18272491, 20646067, 21777382, 21900206, 25416956, 29892012, 29997244, 30213975, 31515488, 32296183, 32814053, 33961781
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	NAS	14718574
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	HDA	16502470
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0006144	Process	Purine nucleobase metabolic process	IBA
GO:0007603	Process	Phototransduction, visible light	IEA
GO:0032991	Component	Protein-containing complex	IEA
GO:0035578	Component	Azurophil granule lumen	TAS
GO:0042562	Function	Hormone binding	IEA
GO:0042802	Function	Identical protein binding	IPI	19861125, 21422279, 21740906, 21777382, 23792159, 23850452
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0140313	Function	Molecular sequestering activity	IEA

MIM	HGNC	e!Ensembl
176300	12405	ENSG00000118271

Protein

UniProt ID

P02766

Protein name

Transthyretin (ATTR) (Prealbumin) (TBPA)

Protein function

Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain.

PDB

1BM7 , 1BMZ , 1BZ8 , 1BZD , 1BZE , 1DVQ , 1DVS , 1DVT , 1DVU , 1DVX , 1DVY , 1DVZ , 1E3F , 1E4H , 1E5A , 1ETA , 1ETB , 1F41 , 1F86 , 1FH2 , 1FHN , 1G1O , 1GKO , 1ICT , 1III , 1IIK , 1IJN , 1QAB , 1QWH , 1RLB , 1SOK , 1SOQ , 1THA , 1THC , 1TLM , 1TSH , 1TT6 , 1TTA , 1TTB , 1TTC , 1TTR , 1TYR , 1TZ8 , 1U21 , 1X7S , 1X7T , 1Y1D , 1Z7J , 1ZCR , 1ZD6 , 2B14

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00576	Transthyretin	32 → 139	HIUase/Transthyretin family	Domain

Tissue specificity

TISSUE SPECIFICITY: Detected in serum and cerebrospinal fluid (at protein level). Highly expressed in choroid plexus epithelial cells. Detected in retina pigment epithelium and liver. {ECO:0000269|PubMed:10328977, ECO:0000269|PubMed:3714052}.

Sequence

MASHRLLLLCLAGLVFVSEAGPTGTGESKCPLMVKVLDAVRGSPAINVAVHVFRKAADDT
WEPFASGKTSESGELHGLTTEEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDS
GPRRYTIAALLSPYSYSTTAVVTNPKE

Sequence length

147

Interactions

View interactions

	KEGG		Reactome
	Thyroid hormone synthesis		Retinoid cycle disease events The canonical retinoid cycle in rods (twilight vision) Non-integrin membrane-ECM interactions Neutrophil degranulation Retinoid metabolism and transport Amyloid fiber formation

Show/Hide Causal Diseases (3)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
cardiomyopathy	Cardiomyopathy	rs28933979, rs121918070, rs76992529	N/A
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	rs76992529, rs2073510805, rs28933979, rs121918070, rs121918071	N/A
Carpal Tunnel Syndrome	Carpal tunnel syndrome 1	rs121918088	N/A

Show/Hide Unknown Diseases (7)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Amyloidosis	amyloidosis, hereditary systemic 1, hereditary ATTR amyloidosis	N/A	N/A	GenCC
Brugada Syndrome	brugada syndrome	N/A	N/A	ClinVar
Conduction Disorder Of The Heart	conduction disorder of the heart	N/A	N/A	ClinVar
Heart Failure	heart failure	N/A	N/A	ClinVar
Hypertrophic Cardiomyopathy	Primary familial hypertrophic cardiomyopathy	N/A	N/A	ClinVar
Hypertrophic cardiomyopathy	hypertrophic cardiomyopathy	N/A	N/A	ClinVar
Neuropathy	familial amyloid neuropathy	N/A	N/A	GenCC

Show/Hide Text Mining Associations (255)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
AA amyloidosis	Associate	10455100, 10551861, 10854214, 10854215, 10998371, 11106758, 11518707, 12876326, 1321563, 1362222, 15377697, 15816901, 16219761, 17029284, 17076759 View all (53 more)
AA amyloidosis	Inhibit	29087319, 36328502, 8938268
AA amyloidosis	Stimulate	40429650
Abnormalities Multiple	Associate	30170966
Abortion Habitual	Stimulate	25096020
Abortion Spontaneous	Inhibit	37968664
Adenomatous Polyposis Coli	Associate	15115956, 17061984, 23993291, 24781992, 27793437, 30810593, 33373035, 3457802, 8095018
Alcoholic Neuropathy	Associate	35279758, 36366846
Alzheimer Disease	Inhibit	16716350, 29087319, 9559653
Alzheimer Disease	Associate	19328595, 23028965, 23133543, 24528201, 24756957, 26627638, 27249223, 34151536, 36633448
Amyloid Neuropathies	Associate	1321563, 1644201, 19089844, 20373457, 24030042, 25471118, 25557530, 28943540, 3379433, 34343569, 36204920, 7914929, 8509786
Amyloid Neuropathies Familial	Associate	10226117, 10465115, 10551861, 10627502, 10854215, 11468357, 11567048, 12200779, 12900507, 1300167, 1362222, 14625827, 15281912, 15485482, 15496172 View all (100 more)
Amyloid Neuropathies Familial	Inhibit	19065297
Amyloidosis	Associate	10226117, 10455100, 10854214, 11752443, 1350083, 14578606, 16115295, 17116243, 17251346, 1729888, 17522146, 18318779, 18474516, 18825272, 19188365 View all (95 more)
Amyloidosis	Stimulate	40016044
Amyloidosis Familial	Associate	10455100, 11518707, 11849445, 12050338, 12649341, 14604984, 14968122, 15377697, 1644839, 17317215, 18318779, 2015890, 20840742, 21822203, 22607976 View all (22 more)
Amyloidosis familial visceral	Associate	20951486
Amyloidosis Hereditary Transthyretin Related	Associate	10854215, 12876326, 16155157, 16219761, 16971399, 18326041, 18984591, 20211733, 20937937, 22464102, 23185504, 24286032, 24601850, 24767411, 25367359 View all (88 more)
Amyloidosis Hereditary Transthyretin Related	Inhibit	35869634
Amyotrophic Lateral Sclerosis	Associate	16313519
Amyotrophic Lateral Sclerosis	Inhibit	20583124
Anemia Hemolytic	Associate	32994444
Arrhythmias Cardiac	Associate	21280184, 9068139
Arthritis Rheumatoid	Stimulate	24714506
Arthritis Rheumatoid	Associate	34458379
Ascites	Associate	9798666
Ataxia	Associate	16971399, 26156087, 8579098
Atherosclerosis	Associate	33299376
Atrial Fibrillation	Associate	36941075, 37212191
Atrioventricular Block	Associate	28882124
Atrophy	Associate	19328595
Autistic Disorder	Associate	36199823
Autoimmune Diseases	Associate	26339445
Autonomic Nervous System Diseases	Associate	27422051, 28882124, 34668655, 35730447, 36204920, 36261369, 39521178
Blood Coagulation Disorders	Associate	36224755
Breast Neoplasms	Inhibit	39195217
Carcinoma Hepatocellular	Inhibit	17828420
Carcinoma Hepatocellular	Associate	36091935, 36378050
Carcinoma Ovarian Epithelial	Associate	21708402, 30917846
Carcinoma Skin Appendage	Associate	28335735
Cardiomegaly	Associate	16115295, 33928732
Cardiomyopathies	Associate	10854215, 12351683, 12649341, 1570831, 21865539, 22382560, 24358189, 25367359, 25551524, 25557530, 26193961, 28460244, 28563699, 28625364, 28904227 View all (19 more)
Cardiomyopathies	Stimulate	31521469, 33827635
Cardiomyopathy Dilated	Associate	35438637
Cardiomyopathy Hypertrophic	Associate	16115295, 24412190, 28475415, 32150461, 36380086, 37335747, 37466024, 39260623, 40495216
Cardiomyopathy Restrictive	Associate	24030042
Cardiovascular Diseases	Associate	26752631, 34634447, 35377943, 36930136
Carpal Tunnel Syndrome	Associate	17443043, 17466336, 20132088, 21733562, 31178489, 32749600, 33428857, 33739616, 34024775, 34079032, 34935565, 36772971, 36941075, 8095301
Central Nervous System Diseases	Associate	12649341, 33348885, 3479441, 39423596, 8579098
Central Nervous System Infections	Associate	15377697
Cerebellar Ataxia	Associate	15377697
Cerebrovascular Disorders	Associate	32425064
Charcot Marie Tooth disease Type 1C	Associate	20815953
Chediak Higashi Syndrome	Associate	20435197
Chest Pain	Associate	28882124
Cholangiocarcinoma	Associate	24586698, 36224755, 37688511
Clinical Deterioration	Associate	35283385
Cognition Disorders	Associate	30241302
Colorectal Neoplasms	Associate	36101808
Constipation	Associate	31826067
Conversion Disorder	Associate	20826058
Corneal Opacity	Associate	1350083, 15930086, 17466336, 24113303
Coronary Artery Disease	Associate	33299376
Death	Associate	17061984, 18326041, 20209591, 25551524, 32000831, 37212191
Deglutition Disorders	Associate	28882124
Dementia	Associate	16971399, 26156087, 8579098
Depressive Disorder	Inhibit	16716350
Depressive Disorder	Associate	16971399
Depressive Disorder Major	Associate	33451315
Diabetes Complications	Associate	37884923
Diabetes Gestational	Stimulate	38354646
Diabetes Mellitus	Associate	25415563, 31504048
Diabetes Mellitus	Stimulate	37884923
Diabetes Mellitus Type 1	Associate	37537394, 37886648
Diabetes Mellitus Type 2	Associate	18825272, 32235466
Diabetic Retinopathy	Associate	28950253
Diabetic Retinopathy	Inhibit	31615521
Diarrhea	Associate	31826067, 32000831, 7849393, 8095302
Disease	Associate	22053176, 28920684, 30793974, 36198883, 36835140
Drug Hypersensitivity	Associate	16236163
Drug Related Side Effects and Adverse Reactions	Associate	14981241, 23028965, 25395306, 30414409
Drug Related Side Effects and Adverse Reactions	Inhibit	23028965, 32011129
Drug Related Side Effects and Adverse Reactions	Stimulate	25940564, 36219173
Dysbiosis	Associate	27894337
Dyspnea	Associate	17251346, 28882124
Early Onset Glaucoma	Associate	24767411, 31517333
Edema	Associate	33428857
Epilepsy Tonic Clonic	Associate	20209591
Episodic Ataxia	Associate	16971399
Fabry Disease	Associate	28957343, 40495216
familial dilated cardiomyopathy	Associate	11752443, 22329529, 28335735, 33348885, 7867637
Fecal Incontinence	Associate	31826067
Fibrosis	Associate	19477948, 29999587, 34018852
Fractures Bone	Associate	34935565
Frontotemporal Dementia	Associate	30292090
Gait Disorders Neurologic	Associate	15496172
Gallstones	Stimulate	25671835
Gastrointestinal Diseases	Associate	24030042, 34668655, 34935565
Gastrointestinal Diseases	Stimulate	31517333
Genetic Diseases Inborn	Associate	1644839
Glaucoma	Associate	26096568
Glaucoma Open Angle	Associate	21203405
Glioma	Associate	40617935
Gonorrhea	Associate	15972520, 36321833
Guillain Barre Syndrome	Inhibit	18343991, 20801190
Headache	Associate	16971399
Hearing Loss Sensorineural	Associate	15377697
Heart Block	Associate	17443043
Heart Diseases	Associate	12649341, 17061984, 17251346, 20209591, 21822203, 21945954, 23400849, 25793032, 26286619, 26849806, 29153245, 30284755, 31139689, 31521469, 31864976 View all (10 more)
Heart Diseases	Stimulate	34018852
Heart Failure	Associate	20435197, 25551524, 28460244, 31932463, 32789836, 33237279, 33428857, 33715921, 33928732, 33963812, 34079032, 34634447, 35095067, 35115086, 35216460 View all (5 more)
Heart Failure	Stimulate	34018852, 34145794
Heart Neoplasms	Associate	31666456
Hepatomegaly	Associate	32999221
Hereditary Myopathy with Early Respiratory Failure	Associate	24142783
Hereditary Sensory and Autonomic Neuropathies	Associate	35730447
Heterotaxy Syndrome	Associate	33928732
Hodgkin Disease	Associate	32235718
Huntington Disease	Inhibit	33247616
Hypersensitivity Immediate	Associate	26645624
Hyperthyroxinemia	Associate	1644839, 1979335, 8428916
Hypertrophy Left Ventricular	Stimulate	31521469, 34145794
Hypertrophy Left Ventricular	Associate	31521469
Hypesthesia	Associate	27386769
Hypomagnesemia 5 Renal with Ocular Involvement	Associate	34668655
Hypotension Orthostatic	Associate	28882124, 30333406, 36644836, 8095302
Hypothyroidism	Associate	31178489
Hypoxia	Associate	28950253
Immunoglobulin Light chain Amyloidosis	Associate	19808299, 21917755, 28338000, 37439769
Infections	Inhibit	29087319
Infections	Associate	36321833
Inflammation	Associate	16649161, 23844025, 32113117
Inflammation	Stimulate	28484271, 34018852
Insulin Resistance	Associate	38354646
Iris Diseases	Associate	26096568
Iron Overload	Associate	24601850
Ischemia	Associate	20826058
Kidney Diseases	Associate	1729893, 28272196, 31932463, 35216460
Kidney Failure Chronic	Stimulate	32994444
Kidney Failure Chronic	Associate	38090549
Lead Poisoning Nervous System	Associate	37335747
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	28117336
Leukemia Myeloid Chronic Phase	Associate	28117336
Leukemic Infiltration	Associate	37953725
Lewy Body Disease	Associate	23133543, 26627638
Liver Failure	Associate	28025641
Lumbar Stenosis Familial	Stimulate	30856118
Lung Neoplasms	Inhibit	17683510
Lupus Erythematosus Systemic	Associate	28675715, 30170966
Lymphoma Non Hodgkin	Associate	19188365
Malnutrition	Associate	27894337
Marijuana Abuse	Inhibit	34500744
Mastocytosis Systemic	Associate	26156087
Median Neuropathy	Associate	36772971
Meningeal Neoplasms	Associate	16971399, 25488473, 26656838, 28478513, 32324953, 39423596
Meningioma	Associate	23111736
Molybdenum cofactor deficiency	Stimulate	12385777
Monoclonal Gammopathy of Undetermined Significance	Associate	29424556
Motor neuropathy peripheral with dysautonomia	Associate	33373035
Multiple Myeloma	Associate	12050338, 12649341, 12900507, 14968122, 15146166, 15281912, 15816901, 16386248, 18326041, 19065297, 19808299, 19937650, 2015890, 21733562, 21822203 View all (20 more)
Multiple Organ Failure	Associate	18326041
Multiple Pterygium Syndrome Autosomal Dominant	Associate	32999234
Multiple Sclerosis	Associate	18061280, 35135578
Muscle Neoplasms	Associate	36222831
Muscle Spasticity	Associate	8579098
Muscle Weakness	Stimulate	27422051
Muscular Atrophy	Associate	28882124, 36517414
Muscular Diseases	Associate	36222831
Muscular dystrophy congenital with central nervous system involvement	Associate	32000831, 34047656
Mycosis Fungoides	Associate	17401465
Myopia	Associate	18334949
Nausea	Associate	31826067
Neointima	Associate	19937650, 22053176, 27589730, 34935565
Neoplasms	Associate	22294182, 30396341, 37688511, 40617935
Neoplasms	Inhibit	23374291
Neoplastic Syndromes Hereditary	Associate	31178489, 32789836
Nervous System Diseases	Associate	14578606, 23240369, 25471118, 25973863, 28802308, 30169969, 30478886, 31502419, 31932463, 32500375, 34047656, 34755769, 35095067, 35730447, 36772971, 36941075, 37768671, 8095302 View all (3 more)
Neural crest tumor	Associate	28460244
Neuralgia	Associate	27793437, 28904227, 33373035
Neurobehavioral Manifestations	Associate	39423596
Neuroblastoma	Associate	11518707
Neurologic Manifestations	Associate	16971399, 27386769, 28635949, 35283385, 36198883, 36343383
Neuropathy Painful	Associate	24030042
Neurosarcoidosis	Inhibit	28751284
Neurotoxicity Syndromes	Inhibit	27099354
Obesity	Stimulate	25096020
Obesity Maternal	Associate	20826058
Optic Atrophy Hereditary Leber	Associate	18061280
Optic Nerve Diseases	Associate	21203405, 24014585
Osteoarthritis	Associate	25940564, 34935565
Ovarian Neoplasms	Associate	21372036, 28683725, 30396341
Overweight	Stimulate	25096020
Pain	Associate	27386769
Pancreatic Neoplasms	Inhibit	24349355
Papilledema	Associate	25282612
Paresthesia	Associate	27386769, 31517333, 36261369
Pericardial Effusion	Associate	28882124
Peripheral Nervous System Diseases	Associate	11567048, 12649341, 16971399, 17076759, 22843282, 24368466, 27422051, 30333406, 35751086, 35903975, 36204920, 36941075, 38281068, 8579098
Plaque Amyloid	Associate	10455100, 10854214, 10998371, 11752443, 1321563, 15281912, 17029284, 18606975, 2015890, 20175953, 21733562, 21945954, 24480837, 25245430, 25471118 View all (11 more)
Plaque Amyloid	Stimulate	25550818
Pneumonia Aspiration	Associate	28460244
Poikiloderma with Neutropenia	Associate	33283548, 37059440
Polymicrogyria Asymmetric	Associate	36543209
Polyneuropathies	Associate	10854215, 16115295, 20209591, 24113303, 26291275, 27793437, 29972637, 31521469, 33212063, 33373035, 33739616, 34079032, 34668655, 34755769, 36204920, 37266816, 37768671, 38537102, 8692810 View all (4 more)
Polyradiculopathy	Stimulate	30856118
Porphyria Acute Intermittent	Associate	19570056
Portal Vein Cavernous Transformation Of	Associate	17828420
Pre Eclampsia	Associate	20826058
Prediabetic State	Associate	31504048
Prodromal Symptoms	Associate	39242501
Propionic Acidemia	Associate	25046265
Prostatic Neoplasms	Associate	22740474
Prune Belly Syndrome	Associate	20815953
Purine Nucleoside Phosphorylase Deficiency	Associate	34658264
Renal Insufficiency	Associate	25973863, 28272196, 37953725
Renal Insufficiency Chronic	Associate	35325889
Retinal Degeneration	Associate	37884923
Retinal Diseases	Associate	26096568, 40296025
Retinitis	Associate	25282612, 35627273
Schizophrenia	Associate	17090210
Scotoma	Associate	25686071
Sepsis	Associate	20209591
Shy Drager Syndrome	Associate	36543209
Siderosis	Associate	15377697
Signs and Symptoms Digestive	Associate	24767411, 28635949, 28882124, 31826067, 35095067, 36941075
Skin Manifestations	Associate	31826067
Small Fiber Neuropathy	Associate	31178489
Somnambulism	Associate	27386769
Squamous Cell Carcinoma of Head and Neck	Associate	20957082
ST Elevation Myocardial Infarction	Associate	34360827
Stroke	Associate	32789836, 36198883
Subarachnoid Hemorrhage	Associate	15377697
Syncope	Associate	28882124, 34047656, 37335747
Syndrome	Stimulate	31521469
Syndrome	Associate	31521469
Synovitis	Associate	17251346
TDP 43 Proteinopathies	Inhibit	36633448
Teratoma	Associate	32858486
Thrombosis	Associate	40429650
Tram track sign brain	Associate	27992035
Trigger Finger Disorder	Associate	17443043, 37353960
Trisomy 18 Syndrome	Associate	26752631
Upper Extremity Deformities Congenital	Stimulate	20132088
Upper Extremity Deformities Congenital	Associate	20132088
Urinary Bladder Neoplasms	Associate	23374291
Urinary Retention	Associate	27477961
Venous Insufficiency	Associate	1729893
Venous Thromboembolism	Associate	29964323
Ventricular Dysfunction Left	Associate	27992035, 33928732, 34145794, 37610765
Ventricular Fibrillation	Associate	10854214, 12900507, 31167790, 36835140, 7867637, 9789022
Ventricular Remodeling	Associate	35115086, 36128649
Vision Disorders	Associate	25282612, 33373035
Vomiting	Associate	28272196
Weight Loss	Associate	24767411
Wounds and Injuries	Associate	35115086

TTR (transthyretin)