Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0025269
Disease: Multiple Endocrine Neoplasia Type 2b
Multiple Endocrine Neoplasia Type 2b 		1.000 GermlineCausalMutation ORPHANET Multiple endocrine neoplasia type 2. 20833330

2010
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		0.800 GermlineCausalMutation ORPHANET Multiple endocrine neoplasia type 2. 20833330

2010
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
Familial medullary thyroid carcinoma 		0.800 GermlineCausalMutation ORPHANET Multiple endocrine neoplasia type 2. 20833330

2010
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
Familial medullary thyroid carcinoma 		0.800 GermlineCausalMutation ORPHANET Mutation analysis reveals novel sequence variants in NTRK1 in sporadic human medullary thyroid carcinoma. 10443680

1999
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C1609433
Disease: Congenital absence of kidneys syndrome
Congenital absence of kidneys syndrome 		0.740 GermlineCausalMutation ORPHANET Mutations in RET were found in 7 of 19 fetuses with bilateral renal agenesis (37%) and 2 of 10 fetuses (20%) with unilateral agenesis. 18252215

2008
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		0.600 FusionGene ORPHANET Our data reveal that both multiplex qPCR and FISH assays are equally applicable for detection of RET/PTC rearrangements. 25407564

2015
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		0.600 FusionGene ORPHANET Molecular genetics of papillary thyroid carcinoma: great expectations. 17891228

2007
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C1859049
Disease: CCHS WITH HIRSCHSPRUNG DISEASE
CCHS WITH HIRSCHSPRUNG DISEASE 		0.510 GermlineCausalMutation ORPHANET A 5-year-old girl with congenital central hypoventilation syndrome associated with Hirschsprung's disease (Ondine-Hirschsprung syndrome) representing a missense mutation in exon 12 of the receptor tyrosine kinase (RET) proto-oncogene is reported. 9565426

1998
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0266294
Disease: Unilateral agenesis of kidney
Unilateral agenesis of kidney 		0.310 GermlineCausalMutation ORPHANET Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract. 24429398

2014
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0266294
Disease: Unilateral agenesis of kidney
Unilateral agenesis of kidney 		0.310 GermlineCausalMutation ORPHANET Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis. 21900877

2012