Renal Tubular Transport Disease disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: RNL021 MIFTS: 26	Renal Tubular Transport Disease Categories: Nephrological diseases
Genes Related diseases Pathways Expand all tables

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Aliases & Classifications for Renal Tubular Transport Disease

MalaCards integrated aliases for Renal Tubular Transport Disease:

Name: Renal Tubular Transport Disease ¹² ¹⁵ ¹⁷

Renal Tubular Transport, Inborn Errors ⁴⁴ ⁷⁰

Inborn Renal Tubular Transport Disorder ¹²

Classifications:

MalaCards categories:
Anatomical: Nephrological diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:447

MeSH ⁴⁴ D015499

EFO ¹⁷ EFO_1000647

UMLS ⁷⁰ C0035091

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Summaries for Renal Tubular Transport Disease

MalaCards based summary : Renal Tubular Transport Disease, also known as renal tubular transport, inborn errors, is related to fanconi syndrome and dent disease 1. An important gene associated with Renal Tubular Transport Disease is SLC12A3 (Solute Carrier Family 12 Member 3), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Ion channel transport. Related phenotypes are Decreased viability and Decreased viability

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Related Diseases for Renal Tubular Transport Disease

Diseases related to Renal Tubular Transport Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 68)

#	Related Disease	Score	Top Affiliating Genes
1	fanconi syndrome	32.1	SLC4A4 OCRL CTNS CLCN5
2	dent disease 1	31.8	SLC12A1 OCRL KCNJ1 CTNS CLCNKB CLCNKA
3	renal tubular acidosis	31.8	SLC4A4 SLC4A1 SCNN1G REN OCRL ATP6V1B1
4	gitelman syndrome	31.5	WNK4 WNK1 STK39 SLC12A3 SLC12A1 REN
5	liddle syndrome 1	31.4	WNK4 WNK1 STK39 SLC12A3 SLC12A1 SCNN1G
6	iminoglycinuria	11.2
7	nephrogenic syndrome of inappropriate antidiuresis	11.2
8	x-linked nephrolithiasis type i	11.2
9	bartter syndrome, type 1, antenatal	10.4	SLC12A3 SLC12A1 KCNJ1
10	bartter syndrome, type 4a, neonatal, with sensorineural deafness	10.4	KCNJ1 CLCNKB BSND
11	hypomagnesemia 5, renal, with or without ocular involvement	10.4	SLC12A1 KCNJ1 BSND
12	orofaciodigital syndrome x	10.4	CLCNKA BSND
13	miliaria rubra	10.4	SCNN1G SCNN1B
14	miliaria	10.4	SCNN1G SCNN1B
15	infantile bartter syndrome with sensorineural deafness	10.4	CLCNKB CLCNKA BSND
16	apparent mineralocorticoid excess	10.4	WNK4 REN KCNJ1
17	medullary sponge kidney	10.4	CLCN5 ATP6V1B1 ATP6V0A4
18	proteinuria, chronic benign	10.4	REN CLCNKB CLCN5
19	hypercalciuria, absorptive, 2	10.4	KCNJ1 CLCN5
20	nephrolithiasis, calcium oxalate	10.3	SLC12A1 CLCN5 ATP6V1B1
21	hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome	10.3	SLC4A4 SLC12A1
22	osteopetrosis, autosomal recessive 1	10.3	ATP6V1B1 ATP6V0A4
23	hyperaldosteronism, familial, type i	10.3	WNK4 WNK1 REN
24	myotonia congenita	10.3	CLCNKB CLCNKA CLCN5
25	pseudohypoaldosteronism, type i, autosomal dominant	10.3	SCNN1G SCNN1B REN
26	bartter syndrome, type 4b, neonatal, with sensorineural deafness	10.3	CLCNKB CLCNKA
27	antenatal bartter syndrome	10.3	SLC12A1 REN KCNJ1 BSND
28	idiopathic hypercalciuria	10.3	REN CLCN5
29	bartter syndrome, type 2, antenatal	10.3	SLC12A1 SCNN1G SCNN1B KCNJ1
30	hereditary distal renal tubular acidosis	10.3	SLC4A1 ATP6V1B1 ATP6V0A4
31	distal renal tubular acidosis	10.3	SLC4A1 ATP6V1B1 ATP6V0A4
32	renal tubular acidosis, distal, 3, with or without sensorineural hearing loss	10.3	SLC4A1 ATP6V1B1 ATP6V0A4
33	placenta disease	10.3	SLC12A1 REN KCNJ1
34	auditory system disease	10.3	BSND ATP6V1B1 ATP6V0A4
35	familial hypertension	10.3	WNK4 WNK1 REN KLHL3
36	diabetes insipidus	10.3	SLC12A1 REN CLCNKB CLCNKA
37	autosomal recessive distal renal tubular acidosis	10.3	SLC4A1 ATP6V1B1 ATP6V0A4
38	pseudohypoaldosteronism, type iie	10.3	WNK4 WNK1 KLHL3
39	neuropathy, hereditary sensory and autonomic, type iib	10.3	WNK1 STK39
40	corneal dystrophy, band-shaped	10.3	SLC4A4 CTNS
41	mineral metabolism disease	10.3	SLC12A3 SLC12A1 REN KCNJ1 CLCNKB
42	agenesis of the corpus callosum with peripheral neuropathy	10.3	STK39 SLC12A1
43	polyhydramnios	10.3	SLC12A3 SLC12A1 KCNJ1 CLCNKB BSND
44	hereditary elliptocytosis	10.3	SLC4A1 ATP6V1B1 ATP6V0A4
45	primary hypomagnesemia	10.2	SLC12A1 KCNJ1
46	pseudohypoaldosteronism, type i, autosomal recessive	10.2	SCNN1G SCNN1B REN KCNJ1 ATP6V1B1
47	osteopetrosis, autosomal recessive 4	10.2	SLC4A4 SLC4A1 ATP6V1B1 ATP6V0A4
48	osteopetrosis, autosomal recessive 7	10.2	SLC4A4 SLC4A1 ATP6V1B1 ATP6V0A4
49	osteopetrosis, autosomal recessive 6	10.2	SLC4A4 SLC4A1 ATP6V1B1 ATP6V0A4
50	sensorineural hearing loss	10.2	SLC12A1 KCNJ1 BSND ATP6V1B1 ATP6V0A4

Graphical network of the top 20 diseases related to Renal Tubular Transport Disease:

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Symptoms & Phenotypes for Renal Tubular Transport Disease

GenomeRNAi Phenotypes related to Renal Tubular Transport Disease according to GeneCards Suite gene sharing:

²⁶

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased viability	GR00107-A-1	9.64	STK39
2	Decreased viability	GR00221-A-1	9.64	WNK4
3	Decreased viability	GR00221-A-2	9.64	STK39 WNK4
4	Decreased viability	GR00221-A-3	9.64	WNK1
5	Decreased viability	GR00221-A-4	9.64	WNK1 WNK4
6	Decreased viability	GR00240-S-1	9.64	STK39
7	Decreased viability	GR00249-S	9.64	KCNJ1 SLC12A1 SLC12A3 STK39 WNK1
8	Decreased viability	GR00301-A	9.64	STK39
9	Decreased viability	GR00386-A-1	9.64	CTNS SCNN1G SLC4A4 WNK1
10	Decreased viability	GR00402-S-2	9.64	SLC12A1 SLC12A3 WNK1

MGI Mouse Phenotypes related to Renal Tubular Transport Disease:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cardiovascular system	MP:0005385	10.17	ATP6V1B1 BSND CLCNKA KCNJ1 KLHL3 REN
2	homeostasis/metabolism	MP:0005376	10.16	ATP6V0A4 ATP6V1B1 BSND CLCN5 CLCNKA CLCNKB
3	growth/size/body region	MP:0005378	10.1	ATP6V0A4 ATP6V1B1 BSND CLCN5 CLCNKA KCNJ1
4	mortality/aging	MP:0010768	9.77	ATP6V0A4 BSND CLCNKA KCNJ1 OCRL REN
5	renal/urinary system	MP:0005367	9.62	ATP6V0A4 ATP6V1B1 BSND CLCN5 CLCNKA CLCNKB

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Drugs & Therapeutics for Renal Tubular Transport Disease

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Metabolic Screening in Patients With Donnai-Barrow Syndrome	Unknown status	NCT01509287

Search NIH Clinical Center for Renal Tubular Transport Disease

Cochrane evidence based reviews: renal tubular transport, inborn errors

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Genetic Tests for Renal Tubular Transport Disease

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Anatomical Context for Renal Tubular Transport Disease

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Publications for Renal Tubular Transport Disease

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Genes for Renal Tubular Transport Disease

Genes related to Renal Tubular Transport Disease (0 elite genes):

(show all 37)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	SLC12A3	Solute Carrier Family 12 Member 3	Protein Coding	9.52	DISEASES inferred ¹⁵
2	CLCN5	Chloride Voltage-Gated Channel 5	Protein Coding	9.5	DISEASES inferred ¹⁵
3	WNK4	WNK Lysine Deficient Protein Kinase 4	Protein Coding	9.26	DISEASES inferred ¹⁵
4	KCNJ1	Potassium Inwardly Rectifying Channel Subfamily J Member 1	Protein Coding	9.24	DISEASES inferred ¹⁵
5	CLCNKB	Chloride Voltage-Gated Channel Kb	Protein Coding	9.17	DISEASES inferred ¹⁵
6	SLC12A1	Solute Carrier Family 12 Member 1	Protein Coding	9.11	DISEASES inferred ¹⁵
7	BSND	Barttin CLCNK Type Accessory Subunit Beta	Protein Coding	8.92	DISEASES inferred ¹⁵
8	SCNN1G	Sodium Channel Epithelial 1 Subunit Gamma	Protein Coding	8.88	DISEASES inferred ¹⁵
9	WNK1	WNK Lysine Deficient Protein Kinase 1	Protein Coding	8.79	DISEASES inferred ¹⁵
10	ATP6V1B1	ATPase H+ Transporting V1 Subunit B1	Protein Coding	8.61	DISEASES inferred ¹⁵
11	OCRL	OCRL Inositol Polyphosphate-5-Phosphatase	Protein Coding	8.6	DISEASES inferred ¹⁵
12	REN	Renin	Protein Coding	8.54	DISEASES inferred ¹⁵
13	KLHL3	Kelch Like Family Member 3	Protein Coding	8.41	DISEASES inferred ¹⁵
14	SCNN1B	Sodium Channel Epithelial 1 Subunit Beta	Protein Coding	8.4	DISEASES inferred ¹⁵
15	STK39	Serine/Threonine Kinase 39	Protein Coding	8.38	DISEASES inferred ¹⁵
16	ATP6V0A4	ATPase H+ Transporting V0 Subunit A4	Protein Coding	8.36	DISEASES inferred ¹⁵
17	CTNS	Cystinosin, Lysosomal Cystine Transporter	Protein Coding	8.3	DISEASES inferred ¹⁵
18	CLCNKA	Chloride Voltage-Gated Channel Ka	Protein Coding	8.23	DISEASES inferred ¹⁵
19	SLC4A1	Solute Carrier Family 4 Member 1 (Diego Blood Group)	Protein Coding	8.18	DISEASES inferred ¹⁵
20	SLC4A4	Solute Carrier Family 4 Member 4	Protein Coding	8.1	DISEASES inferred ¹⁵
21	OSGEP	O-Sialoglycoprotein Endopeptidase	Protein Coding	7.89	DISEASES inferred ¹⁵
22	NEDD4L	NEDD4 Like E3 Ubiquitin Protein Ligase	Protein Coding	7.87	DISEASES inferred ¹⁵
23	NR3C2	Nuclear Receptor Subfamily 3 Group C Member 2	Protein Coding	7.85	DISEASES inferred ¹⁵
24	LRP2	LDL Receptor Related Protein 2	Protein Coding	7.78	DISEASES inferred ¹⁵
25	SCNN1A	Sodium Channel Epithelial 1 Subunit Alpha	Protein Coding	7.75	DISEASES inferred ¹⁵
26	CA2	Carbonic Anhydrase 2	Protein Coding	7.62	DISEASES inferred ¹⁵
27	WNK3	WNK Lysine Deficient Protein Kinase 3	Protein Coding	7.56	DISEASES inferred ¹⁵
28	CASR	Calcium Sensing Receptor	Protein Coding	7.53	DISEASES inferred ¹⁵
29	CUBN	Cubilin	Protein Coding	7.5	DISEASES inferred ¹⁵
30	STK24	Serine/Threonine Kinase 24	Protein Coding	7.4	DISEASES inferred ¹⁵
31	XRN2	5'-3' Exoribonuclease 2	Protein Coding	7.33	DISEASES inferred ¹⁵
32	PTH	Parathyroid Hormone	Protein Coding	7.32	DISEASES inferred ¹⁵
33	CLCN4	Chloride Voltage-Gated Channel 4	Protein Coding	7.25	DISEASES inferred ¹⁵
34	NEDD4	NEDD4 E3 Ubiquitin Protein Ligase	Protein Coding	7.24	DISEASES inferred ¹⁵
35	SLC12A2	Solute Carrier Family 12 Member 2	Protein Coding	7.24	DISEASES inferred ¹⁵
36	AQP2	Aquaporin 2	Protein Coding	7.23	DISEASES inferred ¹⁵
37	SLC26A4	Solute Carrier Family 26 Member 4	Protein Coding	7.21	DISEASES inferred ¹⁵

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Variations for Renal Tubular Transport Disease

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Expression for Renal Tubular Transport Disease

Search GEO for disease gene expression data for Renal Tubular Transport Disease.

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Pathways for Renal Tubular Transport Disease

Pathways related to Renal Tubular Transport Disease according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds ⁶⁵ Show member pathways Bicarbonate transporters ⁶⁵ Cation-coupled Chloride cotransporters ⁶⁵ Class II GLUTs ⁶⁵ Facilitative Na+-independent glucose transporters ⁶⁵ Inositol transporters ⁶⁵ Multifunctional anion exchangers ⁶⁵ Na+/Cl- dependent neurotransmitter transporters ⁶⁵ Na+-dependent glucose transporters ⁶⁵ Organic anion transport ⁶⁵ Organic anion transporters ⁶⁵ Organic cation transport ⁶⁵ Organic cation/anion/zwitterion transport ⁶⁵ Proton/oligopeptide cotransporters ⁶⁵ Proton-coupled monocarboxylate transport ⁶⁵ Rhesus glycoproteins mediate ammonium transport. ⁶⁵ SLC-mediated transmembrane transport ⁶⁵ Sodium/Calcium exchangers ⁶⁵ Sodium/Proton exchangers ⁶⁵ Sodium-coupled phosphate cotransporters ⁶⁵ Sodium-coupled sulphate, di- and tri-carboxylate transporters ⁶⁵ Transmembrane transport of small molecules ⁶⁵ Transport of inorganic cations/anions and amino acids/oligopeptides ⁶⁵ Type II Na+/Pi cotransporters ⁶⁵	12.96	WNK4 WNK1 SLC4A4 SLC4A1 SLC12A3 SLC12A1
2	Ion channel transport ⁶⁵ Show member pathways Stimuli-sensing channels ⁶⁵	12.35	WNK4 WNK1 SCNN1G SCNN1B CLCNKB CLCNKA
3	Neuropathic Pain-Signaling in Dorsal Horn Neurons ⁶³ Show member pathways Aldosterone Signaling in Epithelial Cells ⁶³ Cholera Infection ⁶³	12.31	SLC12A3 SLC12A1 SCNN1G SCNN1B CLCN5
4	Insulin receptor recycling ⁶⁵ Show member pathways Collecting duct acid secretion ³⁶ Epithelial cell signaling in Helicobacter pylori infection ³⁶ Iron uptake and transport ⁶⁵ ROS, RNS production in phagocytes ⁶⁵ Transferrin endocytosis and recycling ⁶⁵ Vibrio cholerae infection ³⁶	12.15	SLC4A1 CLCNKB ATP6V1B1 ATP6V0A4
5	Hepatic ABC Transporters ⁶³ Show member pathways MODY (Maturity-Onset Diabetes of Young) ⁶³	11.7	CLCNKB CLCNKA CLCN5
6	Aldosterone-regulated sodium reabsorption ³⁶	11	SCNN1G SCNN1B KCNJ1
7	Diuretics Pathway, Pharmacodynamics ⁶⁰	10.83	WNK4 WNK1 STK39 SLC12A3 SLC12A1 SCNN1G
8	NO-dependent CFTR activation (normal and CF) ²³	10.48	SCNN1G SCNN1B

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GO Terms for Renal Tubular Transport Disease

Cellular components related to Renal Tubular Transport Disease according to GeneCards Suite gene sharing:

(show all 11)

#	Name	GO ID	Score	Top Affiliating Genes
1	integral component of membrane	GO:0016021	10.25	SLC4A4 SLC4A1 SLC12A3 SLC12A1 SCNN1G SCNN1B
2	plasma membrane	GO:0005886	10.03	SLC4A4 SLC4A1 SLC12A3 SLC12A1 SCNN1G SCNN1B
3	extracellular exosome	GO:0070062	10.02	SLC4A4 SLC4A1 SLC12A3 SLC12A1 SCNN1G SCNN1B
4	membrane	GO:0016020	9.93	WNK4 WNK1 STK39 SLC4A4 SLC4A1 SLC12A3
5	integral component of plasma membrane	GO:0005887	9.91	SLC4A4 SLC4A1 SLC12A3 SCNN1G SCNN1B CLCNKB
6	basolateral plasma membrane	GO:0016323	9.72	STK39 SLC4A4 SLC4A1 BSND ATP6V1B1
7	apical part of cell	GO:0045177	9.65	REN CLCN5 ATP6V0A4
8	vacuolar proton-transporting V-type ATPase complex	GO:0016471	9.49	ATP6V1B1 ATP6V0A4
9	plasma membrane protein complex	GO:0098797	9.46	SCNN1G SCNN1B
10	sodium channel complex	GO:0034706	9.4	SCNN1G SCNN1B
11	apical plasma membrane	GO:0016324	9.17	STK39 SLC12A3 SLC12A1 SCNN1G SCNN1B ATP6V1B1

Biological processes related to Renal Tubular Transport Disease according to GeneCards Suite gene sharing:

(show all 27)

#	Name	GO ID	Score	Top Affiliating Genes
1	transmembrane transport	GO:0055085	10.06	SLC4A4 SLC4A1 SLC12A3 SLC12A1 CTNS CLCNKB
2	ion transmembrane transport	GO:0034220	9.96	SLC12A1 SCNN1G SCNN1B KCNJ1 CLCNKB CLCNKA
3	sodium ion transport	GO:0006814	9.89	SLC4A4 SLC12A3 SLC12A1 SCNN1G SCNN1B
4	sodium ion transmembrane transport	GO:0035725	9.88	SLC4A4 SLC12A3 SLC12A1 SCNN1G SCNN1B
5	chloride transmembrane transport	GO:1902476	9.87	SLC4A1 SLC12A3 SLC12A1 CLCNKB CLCNKA CLCN5
6	chloride transport	GO:0006821	9.85	WNK4 SLC4A1 CLCNKB CLCNKA CLCN5 BSND
7	proton transmembrane transport	GO:1902600	9.81	CLCN5 ATP6V1B1 ATP6V0A4
8	potassium ion import across plasma membrane	GO:1990573	9.74	SLC12A3 SLC12A1 KCNJ1
9	sodium ion homeostasis	GO:0055078	9.71	SLC12A3 SLC12A1 SCNN1G SCNN1B
10	potassium ion homeostasis	GO:0055075	9.7	SLC12A3 SLC12A1 ATP6V1B1
11	chloride ion homeostasis	GO:0055064	9.69	SLC12A3 SLC12A1 ATP6V1B1
12	regulation of pH	GO:0006885	9.63	ATP6V1B1 ATP6V0A4
13	ion homeostasis	GO:0050801	9.63	WNK4 WNK1 STK39 SLC4A4 SLC4A1 KLHL3
14	cell volume homeostasis	GO:0006884	9.62	SLC12A3 SLC12A1
15	cellular response to chemokine	GO:1990869	9.62	WNK1 STK39
16	positive regulation of T cell chemotaxis	GO:0010820	9.61	WNK1 STK39
17	multicellular organismal water homeostasis	GO:0050891	9.61	SCNN1G SCNN1B
18	negative regulation of pancreatic juice secretion	GO:0090188	9.61	WNK4 WNK1 STK39
19	positive regulation of sodium ion transmembrane transporter activity	GO:2000651	9.6	WNK4 WNK1
20	positive regulation of potassium ion import	GO:1903288	9.59	WNK4 WNK1
21	negative regulation of sodium ion transport	GO:0010766	9.58	WNK4 WNK1
22	renal sodium ion absorption	GO:0070294	9.58	WNK4 KLHL3
23	cellular response to aldosterone	GO:1904045	9.56	SCNN1G SCNN1B
24	excretion	GO:0007588	9.56	SCNN1G SCNN1B KCNJ1 CLCNKB CLCNKA CLCN5
25	distal tubule morphogenesis	GO:0072156	9.55	WNK4 KLHL3
26	regulation of cellular process	GO:0050794	9.54	WNK4 WNK1
27	ion transport	GO:0006811	9.5	WNK4 WNK1 SLC4A4 SLC4A1 SLC12A3 SLC12A1

Molecular functions related to Renal Tubular Transport Disease according to GeneCards Suite gene sharing:

(show all 12)

#	Name	GO ID	Score	Top Affiliating Genes
1	symporter activity	GO:0015293	9.69	SLC4A4 SLC12A3 SLC12A1
2	transmembrane transporter activity	GO:0022857	9.62	SLC4A4 SLC4A1 SLC12A3 SLC12A1
3	anion transmembrane transporter activity	GO:0008509	9.49	SLC4A4 SLC4A1
4	inorganic anion exchanger activity	GO:0005452	9.48	SLC4A4 SLC4A1
5	ligand-gated sodium channel activity	GO:0015280	9.46	SCNN1G SCNN1B
6	chloride channel inhibitor activity	GO:0019869	9.43	WNK4 WNK1
7	potassium channel inhibitor activity	GO:0019870	9.4	WNK4 WNK1
8	potassium:chloride symporter activity	GO:0015379	9.37	SLC12A3 SLC12A1
9	cation:chloride symporter activity	GO:0015377	9.26	SLC12A3 SLC12A1
10	chloride channel activity	GO:0005254	9.26	CLCNKB CLCNKA CLCN5 BSND
11	sodium:potassium:chloride symporter activity	GO:0008511	9.16	SLC12A3 SLC12A1
12	voltage-gated chloride channel activity	GO:0005247	8.8	CLCNKB CLCNKA CLCN5

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Sources for Renal Tubular Transport Disease

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