Horseshoe Kidney disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: HRS011 MIFTS: 34	Horseshoe Kidney Categories: Nephrological diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Drugs Expand all tables

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Aliases & Classifications for Horseshoe Kidney

MalaCards integrated aliases for Horseshoe Kidney:

Name: Horseshoe Kidney ⁵² ²⁹ ⁶

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Nephrological diseases

See all MalaCards categories (disease lists)

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Summaries for Horseshoe Kidney

MalaCards based summary : Horseshoe Kidney is related to angiomyolipoma and transitional cell carcinoma. An important gene associated with Horseshoe Kidney is PACS1 (Phosphofurin Acidic Cluster Sorting Protein 1). The drugs Fludarabine and alemtuzumab have been mentioned in the context of this disorder. Affiliated tissues include kidney, colon and bone, and related phenotypes are cardiovascular system and cellular

Wikipedia : ⁷⁴ Horseshoe kidney, also known as ren arcuatus (in Latin), renal fusion or super kidney, is a congenital... more...

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Related Diseases for Horseshoe Kidney

Diseases related to Horseshoe Kidney via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 615)

#	Related Disease	Score	Top Affiliating Genes
1	angiomyolipoma	30.2	TSC2 KRT7 ACTC1
2	transitional cell carcinoma	30.2	KRT7 KRT20 ENO2 EGFR
3	hepatoid adenocarcinoma	29.9	KRT7 EGFR CDX2
4	papillary cystadenocarcinoma	29.9	KRT7 KRT20
5	pneumothorax	29.9	NKX2-1 CALB2 ACTC1
6	mucinous cystadenocarcinoma	29.9	KRT7 KRT20 ACTC1
7	cystitis	29.9	KRT7 KRT20 CDX2
8	pseudomyxoma peritonei	29.8	KRT7 KRT20 CDX2
9	ureteral benign neoplasm	29.8	SYP KRT7
10	intestinal obstruction	29.8	KRT7 KRT20 CDX2
11	adenocarcinoma	29.8	NKX2-1 KRT7 KRT20 EGFR CDX2
12	polycystic kidney disease	29.7	TSC2 REN HNF1B EGFR
13	carcinosarcoma	29.7	KRT7 EGFR CALB2 ACTC1
14	chromophobe renal cell carcinoma	29.6	KRT7 KRT20 HNF1B CHGA
15	papilloma	29.5	KRT7 KRT20 EGFR ACTC1
16	neurofibroma	29.5	SYP EGFR ACTC1
17	intrahepatic cholangiocarcinoma	29.5	KRT7 KRT20 EGFR CDX2
18	cholangiocarcinoma	29.5	KRT7 KRT20 EGFR CDX2
19	autosomal dominant polycystic kidney disease	29.4	TSC2 REN HNF1B EGFR
20	wilms tumor 1	29.4	SYP KRT7 ENO2 EGFR CALB2
21	paraganglioma	29.3	SYP ENO2 CHGA
22	mature teratoma	29.3	SYP KRT7 ENO2
23	mucinous adenocarcinoma	29.3	NKX2-1 KRT7 KRT20 EGFR CDX2
24	oncocytoma	29.2	SYP NKX2-1 KRT7 KRT20
25	rhabdomyosarcoma	29.1	SYP ENO2 EGFR ACTC1
26	tuberous sclerosis	29.1	TSC2 SYP ENO2 CHGA
27	cystadenoma	29.0	SYP KRT7 KRT20 CHGA CALB2
28	appendix adenocarcinoma	29.0	SYP KRT7 KRT20 CHGA CDX2
29	carcinoid tumors, intestinal	28.9	SYP NKX2-1 ENO2 CHGA
30	polycystic liver disease 1 with or without kidney cysts	28.8	TSC2 KRT7 KRT20 HNF1B CALB2 ACTC1
31	renal cell carcinoma, nonpapillary	28.7	TSC2 NKX2-1 KRT7 KRT20 HNF1B ENO2
32	neuroendocrine tumor	28.6	SYP NKX2-1 KRT20 ENO2 CHGA CDX2
33	adrenal cortical carcinoma	28.6	SYP REN CHGA CALB2 ACTC1
34	neuroblastoma	28.5	TSC2 SYP PHF6 ENO2 EGFR CHGA
35	endometrial cancer	28.4	NKX2-1 KRT7 KRT20 EGFR CDX2 CALB2
36	papillary carcinoma	28.0	SYP NKX2-1 KRT7 KRT20 CHGA CALB2
37	neuroendocrine carcinoma	27.9	SYP NKX2-1 KRT7 KRT20 ENO2 CHGA
38	adenoma	27.9	SYP REN KRT7 KRT20 CHGA CDX2
39	cystic teratoma	27.9	SYP NKX2-1 KRT7 KRT20 ENO2 CDX2
40	teratoma	27.7	SYP NKX2-1 KRT7 KRT20 ENO2 CHGA
41	hemangioma	27.5	TSC2 SYP NKX2-1 KRT7 ENO2 CHGA
42	sacral defect with anterior meningocele	11.6
43	renal cysts and diabetes syndrome	11.4
44	cleft-limb-heart malformation syndrome	11.2
45	ritscher-schinzel syndrome 1	11.2
46	faciocardiorenal syndrome	11.2
47	lathosterolosis	11.2
48	joubert syndrome 18	11.2
49	anophthalmos with limb anomalies	11.2
50	aortic aneurysm	10.9

Graphical network of the top 20 diseases related to Horseshoe Kidney:

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Symptoms & Phenotypes for Horseshoe Kidney

MGI Mouse Phenotypes related to Horseshoe Kidney:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cardiovascular system	MP:0005385	10.02	ACTC1 CDX2 CHGA EGFR GJB2 NKX2-1
2	cellular	MP:0005384	10.02	ACTC1 CDX2 EGFR ENO2 GJB2 HNF1B
3	growth/size/body region	MP:0005378	10	ACTC1 CDX2 CHGA EGFR ENO2 GJB2
4	mortality/aging	MP:0010768	9.93	ACTC1 CDX2 CHGA EGFR GJB2 HNF1B
5	nervous system	MP:0003631	9.73	ACTC1 CALB2 CHGA EGFR ENO2 GJB2
6	normal	MP:0002873	9.28	ACTC1 CALB2 CDX2 EGFR GJB2 NKX2-1

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Drugs & Therapeutics for Horseshoe Kidney

Drugs for Horseshoe Kidney (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Fludarabine

Approved

Phase 1

21679-14-1, 75607-67-9

30751

Synonyms:

(2R,3S,4S,5R)-2-(6-amino-2-fluoro-9H-purin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol

(2R,3S,4S,5R)-2-(6-amino-2-fluoropurin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol

21679-14-1

2-F-ara-A

2-F-ARAA

2F-Ara-AMP

2-fluoro ARA-A

2-Fluoro Ara-A

2-Fluoro-9-beta-D-arabinofuranosyladenine

2-Fluoroadenine arabinoside 5'-monophosphate

2-Fluoroadenine arabinoside 5'-monophosphoric acid

2-fluoro-ARA AMP

9 beta-D-Arabinofuranosyl-2-fluoroadenine monophosphate

9-b-Arabinofuranosyl-2-fluoroadenine-5'-phosphate

9-b-Arabinofuranosyl-2-fluoroadenine-5'-phosphoric acid

9-b-D-Arabinofuranosyl-2-fluoroadenine 5'-(dihydrogen phosphate)

9-b-D-Arabinofuranosyl-2-fluoroadenine 5'-(dihydrogen phosphoric acid)

9-b-D-Arabinofuranosyl-2-fluoroadenine 5'-monophosphate

9-b-D-Arabinofuranosyl-2-fluoroadenine 5'-monophosphoric acid

9-beta-Arabinofuranosyl-2-fluoroadenine-5'-phosphate

9-beta-Arabinofuranosyl-2-fluoroadenine-5'-phosphoric acid

9-beta-D-arabinofuranosyl-2-fluoro-9H-purin-6-amine

9-beta-D-Arabinofuranosyl-2-fluoroadenine

9-beta-D-Arabinofuranosyl-2-fluoroadenine 5'-(dihydrogen phosphate)

9-beta-D-Arabinofuranosyl-2-fluoroadenine 5'-(dihydrogen phosphoric acid)

9-beta-D-Arabinofuranosyl-2-fluoroadenine 5'-monophosphate

9-beta-D-Arabinofuranosyl-2-fluoroadenine 5'-monophosphoric acid

9H-Purin-6-amine, 9-beta-D-arabinofuranosyl-2-fluoro- (9CI)

9-β-arabinofuranosyl-2-fluoroadenine-5'-phosphate

9-β-arabinofuranosyl-2-fluoroadenine-5'-phosphoric acid

9-β-D-arabinofuranosyl-2-fluoroadenine 5'-(dihydrogen phosphate)

9-β-D-arabinofuranosyl-2-fluoroadenine 5'-(dihydrogen phosphoric acid)

9-β-D-arabinofuranosyl-2-fluoroadenine 5'-monophosphate

9-β-D-arabinofuranosyl-2-fluoroadenine 5'-monophosphoric acid

AC1LCW8I

AC1Q51CF

Beneflur

C10H12FN5O4

CCRIS 3382

CHEMBL1568

CID657237

CPD000058874

D07966

EINECS 244-525-5

FAMP

FaraA

F-Ara-A

FaraAMP

F-Ara-AMP

Fludara

Fludara, Fludarabine

Fludarabina

Fludarabina [Spanish]

Fludarabine

Fludarabine (INN)

Fludarabine [INN]

Fludarabine 5'-monophosphate

Fludarabine 5'-monophosphoric acid

Fludarabine monophosphate

Fludarabine monophosphoric acid

Fludarabine phosphate

Fludarabinum

Fludarabinum [Latin]

Fludura

fluoro-Ara-AMP

Fluradosa

Fluradosa (TN)

FT-0082766

HSDB 6964

I14-4978

LS-15061

MLS000028687

NSC 118218

NSC 118218H

NSC-118218

S1491_Selleck

SAM002548956

SMR000058874

SQ Fludarabine

UNII-1X9VK9O1SC

UNII-P2K93U8740

ZINC04216238

alemtuzumab

Approved, Investigational

Phase 1

216503-57-0

Antineoplastic Agents, Immunological

Phase 1

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	A Phase I Study Evaluating The Use Of Rft5-Dga To Deplete Alloreactive Cells For Patients With Fanconi Anemia After Haploidentical Stem Cell Transplantation	Terminated	NCT00586274	Phase 1	Fludarabine
2	Impact of Low Dose Fluoroscopy in Ureteroscopy	Unknown status	NCT02704949

Search NIH Clinical Center for Horseshoe Kidney

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Genetic Tests for Horseshoe Kidney

Genetic tests related to Horseshoe Kidney:

#	Genetic test	Affiliating Genes
1	Horseshoe Kidney ²⁹

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Anatomical Context for Horseshoe Kidney

MalaCards organs/tissues related to Horseshoe Kidney:

⁴⁰

Kidney, Colon, Bone, Lung, Pancreas, Lymph Node, Spleen

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Publications for Horseshoe Kidney

Articles related to Horseshoe Kidney:

(show top 50) (show all 1498)

#	Title	Authors	PMID	Year
1	CHARGE syndrome associated with de novo (I1460Rfs*15) frameshift mutation of CHD7 gene in a patient with arteria lusoria and horseshoe kidney. ⁶¹	Gug C...Stoicanescu D	32509017	2020
2	Identification of a possible association of JAK2 in development of microphthalmia, anophthalmia, and coloboma (MAC) complex in a child with 9p deletion and duplication. ⁶¹	Leung KCP...Ko TCS	32506980	2020
3	Laparoscopic nephron-sparing surgery for a tumor near the isthmus of a horseshoe kidney with a complicated blood supply. ⁶¹	Shao Z...Gao J	32489122	2020
4	Two applications for laparoscopic combined ventral and dorsal side approach in the lateral decubitus position: 1) right-modified retroperitoneal lymph node dissection, 2) nephrectomy for horseshoe kidney. ⁶¹	Fujiwara H...Ito N	32505619	2020
5	Renal transplantation using vascular conduit reconstruction in deceased kidneys with multiple renal arteries and short renal veins. ⁶¹	Alexander A...Ciancio G	32534829	2020
6	Upper Urinary Tract Adenocarcinoma Arising in Tubular Adenoma-A Rare Entity: Report of 2 Cases and Review of Literature. ⁶¹	Nambiyar K...Mavuduru RS	31594436	2020
7	Upper Tract Urothelial Carcinoma in a Patient With Horseshoe Kidney. ⁶¹	Brant A...Russo P	32389816	2020
8	The rupture of an abdominal aortic aneurysm at the level of horseshoe kidney: A case report. ⁶¹	Yesildal C...Albayrak A	32181142	2020
9	Outcomes of ureteroscopy for stone disease in anomalous kidneys: a systematic review. ⁶¹	Lavan L...Somani BK	31101967	2020
10	Horseshoe adrenal gland associated with spinal and vascular anomalies. ⁶¹	Romano N...Rollandi GA	31686130	2020
11	Supernumerary kidney forming isthmus of horseshoe kidney: A rare presentation. ⁶¹	Vakade AD...Jayasudha S	32549668	2020
12	Retrograde intrarenal surgery as a tool for lithiasis management in renal anomalies. Four cases description. ⁶¹	Lopez-Fontana G...Lopez-Fontana R	32240110	2020
13	Case Report of a Pelvic Crossed Fused Renal Ectopic Kidney. ⁶¹	Simonds E...Tubbs RS	32336732	2020
14	Management of staghorn stones in special situations. ⁶¹	Gao X...Sun Y	32257806	2020
15	Robotic-assisted Laparoscopic Simple Enucleation in a Horseshoe Kidney. A Case Report and Review of the Literature. ⁶¹	Bottero D...de Cobelli O	32283171	2020
16	Screening for Renal and Urinary Tract Anomalies in Asymptomatic First Degree Relatives of Children with Congenital Anomalies of the Kidney and Urinary Tract (CAKUT). ⁶¹	Manoharan A...Jindal B	32198693	2020
17	Colon perforation after PCNL in reverse rotation anomalous kidney: A very rare case report and literature review. ⁶¹	Guler Y	31867217	2020
18	Fenestrated endovascular aneurysm repair with concomitant horseshoe kidney. ⁶¹	Peters D...Mariner D	32025598	2020
19	Horseshoe Kidney Isthmus Infarction After Percutaneous Endovascular Aortic Aneurysm Repair. ⁶¹	Melmer PD...Borowicz MR	32300499	2020
20	[Single-Incision Laparoscopic Colectomy for Descending Colon Cancer in a Patient with a Horseshoe Kidney]. ⁶¹	Tamaoka K...Akamatsu H	32381969	2020
21	Horseshoe Kidney Protection with Histidine-Tryptophan-Ketoglutarate Solution during Surgical Abdominal Aortic Aneurysm Repair. ⁶¹	Tinelli G...Tshomba Y	31622767	2020
22	Presacral Anatomy in Women With a Horseshoe Kidney. ⁶¹	Ortega MV...Weinstein MM	31990798	2020
23	Laparoscopic Nephrolithotomy in a Horseshoe Kidney. ⁶¹	Breish MO...Hamdoon M	32190520	2020
24	Curious case of myxoid adipocytic tumour with ureteropelvic junction obstruction in horseshoe kidney: dilemma in management. ⁶¹	Nayyar R...Saini S	31980472	2020
25	Diagnostic Capability of Next-Generation Sequencing Fusion Analysis in Identifying a Rare CASE of TRAF1-ALK-Associated Anaplastic Large Cell Lymphoma. ⁶¹	Agarwal I...Alikhan MB	32457846	2020
26	Laparoscopy-Assisted Transperitoneal Percutaneous Nephrolithotomy for the Treatment of Renal Stones in a Horseshoe Kidney. ⁶¹	Haghighi R...Teimouri A	32110553	2020
27	[Ultrasound screening and follow-up study of congenital anomalies of the kidney and urinary tract in neonates]. ⁶¹	Li NN...Zhang HB	31848505	2019
28	Retroperitoneal Aortobifemoral Bypass by a Combination of Horseshoe Kidney and Aortoiliac Occlusive Disease with Stent Thrombosis. ⁶¹	Govedarski V...Vassileva Z	31813899	2019
29	Kidney transplantation utilizing a horseshoe kidney. ⁶¹	Kagan I...Yabu JM	31759493	2019
30	Renal Neuroendocrine Neoplasms: A Single-center Experience. ⁶¹	McGarrah PW...Halfdanarson TR	31911122	2019
31	Robot-assisted vs laparoscopic pyeloplasty in children with uretero-pelvic junction obstruction (UPJO): technical considerations and results. ⁶¹	Esposito C...Escolino M	31734119	2019
32	Renal outcomes in adult patients with horseshoe kidney. ⁶¹	Kang M...Han SS	31697372	2019
33	A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants. ⁶¹	Mancini C...Brussino A	30445150	2019
34	A Novel Nonsense Mutation of PHF6 in a Female with Extended Phenotypes of Borjeson-Forssman-Lehmann Syndrome ⁶¹	Zhang X...Yu Y	30630810	2019
35	Role of the three-dimensional printing technology incomplex laparoscopic renal surgery: a renal tumor in a horseshoe kidney. ⁶¹	Mercader C...Alcaraz A	31808400	2019
36	Transplantation of a horseshoe kidney from a living donor using stapler for transsection. ⁶¹	Sozener U	31737244	2019
37	Successful para-aortic lymph node dissection for endometrial cancer with horseshoe kidney: A case report and review of the literature. ⁶¹	Murakami A...Murakami T	31293032	2019
38	Ruptured Abdominal Aortic Aneurysm and Horseshoe Kidney: Isthmus Sectioning By Endo GIA. ⁶¹	Gabriele P...Luciano C	31262229	2019
39	Robot-assisted laparoscopic pyeloplasty (RALP) in children with horseshoe kidneys: results of a multicentric study. ⁶¹	Esposito C...Escolino M	30643972	2019
40	Left lateral retroperitoneoscopic total nephrectomy of a horseshoe kidney in a 3-year-old boy. ⁶¹	Lottmann H...Blanc T	31477414	2019
41	Struggle in struggle: Surgical treatment of Leriche syndrome in a horseshoe kidney patient. ⁶¹	Depboylu BC...Arslan K	32082932	2019
42	[3D-technologies in planning and navigation for laparoscopic interventions in patients with renal and ureteric stones]. ⁶¹	Alyaev YG...Ali SH	31535798	2019
43	EVAR Approach for Abdominal Aortic Aneurysm with Horseshoe Kidney: A Multicenter Experience. ⁶¹	Fabiani MA...Maldonado TS	30731220	2019
44	Renal cell carcinoma in a horseshoe kidney treated with robot-assisted partial nephrectomy. ⁶¹	Yamamichi G...Tsujihata M	31193168	2019
45	Low Dose Fluoroscopy During Ureteroscopy Does Not Compromise Surgical Outcomes. ⁶¹	Danilovic A...Mazzucchi E	30793920	2019
46	[A comparative analysis of the results of percutaneous nephrolithotomy and laparoscopic pyelolithotomy]. ⁶¹	Guliev BG...Zaikin AY	31162897	2019
47	Endovascular stent graft repair with chimney technique of an abdominal aortic aneurysm with concomitant horseshoe kidney. ⁶¹	Boyacioglu K...Ketenciler S	32551171	2019
48	A deadly trap for para-aortic lymph node dissection in patients with horseshoe kidney as a complication: a case report. ⁶¹	Zhou Q...Chen X	31109221	2019
49	[Acute urine retention due to herlyn-Werner-Wunderlinch syndrome.] ⁶¹	Garcia Penalver C...Verger Kuhnke AB	31223131	2019
50	SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypes. ⁶¹	Kim JH...Ahn EE	31005274	2019

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Genes for Horseshoe Kidney

Genes related to Horseshoe Kidney (1 elite genes):

(show all 17)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	PACS1	Phosphofurin Acidic Cluster Sorting Protein 1	Protein Coding	407.12	Pathogenic ⁶ GeneCards inferred via : Variants (show sections)
2	HNF1B	HNF1 Homeobox B	Protein Coding	15.84	GeneCards inferred via : Disorders Publications (show sections)
3	TCTN3	Tectonic Family Member 3	Protein Coding	7.66	GeneCards inferred via : Disorders (show sections)
4	GJB2	Gap Junction Protein Beta 2	Protein Coding	7.12	GeneCards inferred via : Variants (show sections)
5	PHF6	PHD Finger Protein 6	Protein Coding	7.12	GeneCards inferred via : Variants (show sections)
6	ACTC1	Actin Alpha Cardiac Muscle 1	Protein Coding	6.44	GeneCards inferred via : Publications (show sections)
7	CALB2	Calbindin 2	Protein Coding	6.44	GeneCards inferred via : Publications (show sections)
8	CDX2	Caudal Type Homeobox 2	Protein Coding	6.44	GeneCards inferred via : Publications (show sections)
9	CHGA	Chromogranin A	Protein Coding	6.44	GeneCards inferred via : Publications (show sections)
10	EGFR	Epidermal Growth Factor Receptor	Protein Coding	6.44	GeneCards inferred via : Publications (show sections)
11	ENO2	Enolase 2	Protein Coding	6.44	GeneCards inferred via : Publications (show sections)
12	KRT20	Keratin 20	Protein Coding	6.44	GeneCards inferred via : Publications (show sections)
13	KRT7	Keratin 7	Protein Coding	6.44	GeneCards inferred via : Publications (show sections)
14	NKX2-1	NK2 Homeobox 1	Protein Coding	6.44	GeneCards inferred via : Publications (show sections)
15	REN	Renin	Protein Coding	6.44	GeneCards inferred via : Publications (show sections)
16	SYP	Synaptophysin	Protein Coding	6.44	GeneCards inferred via : Publications (show sections)
17	TSC2	TSC Complex Subunit 2	Protein Coding	6.44	GeneCards inferred via : Publications (show sections)

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Variations for Horseshoe Kidney

ClinVar genetic disease variations for Horseshoe Kidney:

⁶ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	PACS1	NM_018026.4(PACS1):c.607C>T (p.Arg203Trp)	SNV	Pathogenic	39581	rs398123009	11:65978677-65978677	11:66211206-66211206
2		46;XY;inv(6)(p22q13)dn	inversion	Pathogenic	267941
3	GJB2	NM_004004.6(GJB2):c.269T>C (p.Leu90Pro)	SNV	Conflicting interpretations of pathogenicity	17016	rs80338945	13:20763452-20763452	13:20189313-20189313
4	PHF6	NM_001015877.2(PHF6):c.956G>C (p.Arg319Pro)	SNV	Uncertain significance	523390	rs1556019449	X:133551320-133551320	X:134417290-134417290

Sources

Expression for Horseshoe Kidney

Search GEO for disease gene expression data for Horseshoe Kidney.

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Pathways for Horseshoe Kidney

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GO Terms for Horseshoe Kidney

Biological processes related to Horseshoe Kidney according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	cerebral cortex cell migration	GO:0021795	8.62	NKX2-1 EGFR

Sources

Sources for Horseshoe Kidney

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia