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

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	2668
Gene name Gene Name - the full gene name approved by the HGNC.	Glial cell derived neurotrophic factor
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	GDNF
Synonyms (NCBI Gene) Gene synonyms aliases	ATF, ATF1, ATF2, HFB1-GDNF, HSCR3
Disease Acronyms (UniProt) Disease acronyms from UniProt database	HSCR3
Chromosome Chromosome number	5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	5p13.2
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate

Show/Hide all(4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs36119840	G>A	Pathogenic, risk-factor, likely-benign	Coding sequence variant, missense variant
rs104893891	T>A,C	Risk-factor	Coding sequence variant, missense variant
rs121918536	G>C	Risk-factor	Coding sequence variant, missense variant
rs375385439	C>A,T	Conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, synonymous variant

Show/Hide all(215)

miRTarBase ID	miRNA	Experiments	Reference
MIRT019438	hsa-miR-148b-3p	Microarray	17612493
MIRT022032	hsa-miR-128-3p	Microarray	17612493
MIRT025911	hsa-miR-7-5p	Microarray	17612493
MIRT630717	hsa-miR-3129-3p	HITS-CLIP	23824327
MIRT630716	hsa-miR-5583-5p	HITS-CLIP	23824327
MIRT630715	hsa-miR-8485	HITS-CLIP	23824327
MIRT630714	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT630713	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT630712	hsa-miR-603	HITS-CLIP	23824327
MIRT630711	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT630710	hsa-miR-410-3p	HITS-CLIP	23824327
MIRT630709	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT630708	hsa-miR-3941	HITS-CLIP	23824327
MIRT630707	hsa-miR-4672	HITS-CLIP	23824327
MIRT630706	hsa-miR-466	HITS-CLIP	23824327
MIRT630705	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT572238	hsa-miR-1295b-5p	PAR-CLIP	20371350
MIRT572237	hsa-miR-1912	PAR-CLIP	20371350
MIRT572236	hsa-miR-4724-5p	PAR-CLIP	20371350
MIRT572235	hsa-miR-4499	PAR-CLIP	20371350
MIRT572233	hsa-miR-499b-5p	PAR-CLIP	20371350
MIRT572234	hsa-miR-4304	PAR-CLIP	20371350
MIRT572232	hsa-miR-3124-3p	PAR-CLIP	20371350
MIRT395981	hsa-miR-129-5p	PAR-CLIP	20371350
MIRT559413	hsa-miR-19a-3p	PAR-CLIP	20371350
MIRT559412	hsa-miR-19b-3p	PAR-CLIP	20371350
MIRT559411	hsa-miR-548e-5p	PAR-CLIP	20371350
MIRT559410	hsa-miR-548an	PAR-CLIP	20371350
MIRT559409	hsa-miR-8066	PAR-CLIP	20371350
MIRT559408	hsa-miR-548aj-5p	PAR-CLIP	20371350
MIRT559407	hsa-miR-548f-5p	PAR-CLIP	20371350
MIRT559406	hsa-miR-548g-5p	PAR-CLIP	20371350
MIRT559405	hsa-miR-548x-5p	PAR-CLIP	20371350
MIRT559404	hsa-miR-1468-3p	PAR-CLIP	20371350
MIRT568436	hsa-miR-548aw	PAR-CLIP	20371350
MIRT559403	hsa-miR-153-3p	PAR-CLIP	20371350
MIRT559402	hsa-miR-448	PAR-CLIP	20371350
MIRT559401	hsa-miR-450b-5p	PAR-CLIP	20371350
MIRT559400	hsa-miR-507	PAR-CLIP	20371350
MIRT559399	hsa-miR-557	PAR-CLIP	20371350
MIRT559398	hsa-miR-3680-3p	PAR-CLIP	20371350
MIRT568435	hsa-miR-409-3p	PAR-CLIP	20371350
MIRT568434	hsa-miR-33a-3p	PAR-CLIP	20371350
MIRT568433	hsa-miR-4255	PAR-CLIP	20371350
MIRT568432	hsa-miR-4307	PAR-CLIP	20371350
MIRT568431	hsa-miR-302b-5p	PAR-CLIP	20371350
MIRT568430	hsa-miR-302d-5p	PAR-CLIP	20371350
MIRT568429	hsa-miR-2116-5p	PAR-CLIP	20371350
MIRT568428	hsa-miR-22-5p	PAR-CLIP	20371350
MIRT559413	hsa-miR-19a-3p	PAR-CLIP	21572407
MIRT559412	hsa-miR-19b-3p	PAR-CLIP	21572407
MIRT559411	hsa-miR-548e-5p	PAR-CLIP	21572407
MIRT559410	hsa-miR-548an	PAR-CLIP	21572407
MIRT559409	hsa-miR-8066	PAR-CLIP	21572407
MIRT559408	hsa-miR-548aj-5p	PAR-CLIP	21572407
MIRT559407	hsa-miR-548f-5p	PAR-CLIP	21572407
MIRT559406	hsa-miR-548g-5p	PAR-CLIP	21572407
MIRT559405	hsa-miR-548x-5p	PAR-CLIP	21572407
MIRT559404	hsa-miR-1468-3p	PAR-CLIP	21572407
MIRT559403	hsa-miR-153-3p	PAR-CLIP	21572407
MIRT559402	hsa-miR-448	PAR-CLIP	21572407
MIRT559401	hsa-miR-450b-5p	PAR-CLIP	21572407
MIRT559400	hsa-miR-507	PAR-CLIP	21572407
MIRT559399	hsa-miR-557	PAR-CLIP	21572407
MIRT559398	hsa-miR-3680-3p	PAR-CLIP	21572407
MIRT539075	hsa-miR-4282	PAR-CLIP	22012620
MIRT539074	hsa-miR-140-3p	PAR-CLIP	22012620
MIRT734622	hsa-miR-96-5p	In situ hybridization, Luciferase reporter assay	26681446
MIRT734622	hsa-miR-96-5p	Microarray	31751571
MIRT630717	hsa-miR-3129-3p	HITS-CLIP	23824327
MIRT630716	hsa-miR-5583-5p	HITS-CLIP	23824327
MIRT630715	hsa-miR-8485	HITS-CLIP	23824327
MIRT630714	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT630713	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT630712	hsa-miR-603	HITS-CLIP	23824327
MIRT630711	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT630710	hsa-miR-410-3p	HITS-CLIP	23824327
MIRT630709	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT630708	hsa-miR-3941	HITS-CLIP	23824327
MIRT630707	hsa-miR-4672	HITS-CLIP	23824327
MIRT630706	hsa-miR-466	HITS-CLIP	23824327
MIRT630705	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT572238	hsa-miR-1295b-5p	PAR-CLIP	20371350
MIRT572237	hsa-miR-1912	PAR-CLIP	20371350
MIRT572236	hsa-miR-4724-5p	PAR-CLIP	20371350
MIRT572235	hsa-miR-4499	PAR-CLIP	20371350
MIRT572233	hsa-miR-499b-5p	PAR-CLIP	20371350
MIRT572234	hsa-miR-4304	PAR-CLIP	20371350
MIRT572232	hsa-miR-3124-3p	PAR-CLIP	20371350
MIRT395981	hsa-miR-129-5p	PAR-CLIP	20371350
MIRT559413	hsa-miR-19a-3p	PAR-CLIP	20371350
MIRT559412	hsa-miR-19b-3p	PAR-CLIP	20371350
MIRT559411	hsa-miR-548e-5p	PAR-CLIP	20371350
MIRT559410	hsa-miR-548an	PAR-CLIP	20371350
MIRT559409	hsa-miR-8066	PAR-CLIP	20371350
MIRT559408	hsa-miR-548aj-5p	PAR-CLIP	20371350
MIRT559407	hsa-miR-548f-5p	PAR-CLIP	20371350
MIRT559406	hsa-miR-548g-5p	PAR-CLIP	20371350
MIRT559405	hsa-miR-548x-5p	PAR-CLIP	20371350
MIRT559404	hsa-miR-1468-3p	PAR-CLIP	20371350
MIRT568436	hsa-miR-548aw	PAR-CLIP	20371350
MIRT559403	hsa-miR-153-3p	PAR-CLIP	20371350
MIRT559402	hsa-miR-448	PAR-CLIP	20371350
MIRT559401	hsa-miR-450b-5p	PAR-CLIP	20371350
MIRT559400	hsa-miR-507	PAR-CLIP	20371350
MIRT559399	hsa-miR-557	PAR-CLIP	20371350
MIRT559398	hsa-miR-3680-3p	PAR-CLIP	20371350
MIRT568435	hsa-miR-409-3p	PAR-CLIP	20371350
MIRT568434	hsa-miR-33a-3p	PAR-CLIP	20371350
MIRT568433	hsa-miR-4255	PAR-CLIP	20371350
MIRT568432	hsa-miR-4307	PAR-CLIP	20371350
MIRT568431	hsa-miR-302b-5p	PAR-CLIP	20371350
MIRT568430	hsa-miR-302d-5p	PAR-CLIP	20371350
MIRT568429	hsa-miR-2116-5p	PAR-CLIP	20371350
MIRT568428	hsa-miR-22-5p	PAR-CLIP	20371350
MIRT559413	hsa-miR-19a-3p	PAR-CLIP	21572407
MIRT559412	hsa-miR-19b-3p	PAR-CLIP	21572407
MIRT559411	hsa-miR-548e-5p	PAR-CLIP	21572407
MIRT559410	hsa-miR-548an	PAR-CLIP	21572407
MIRT559409	hsa-miR-8066	PAR-CLIP	21572407
MIRT559408	hsa-miR-548aj-5p	PAR-CLIP	21572407
MIRT559407	hsa-miR-548f-5p	PAR-CLIP	21572407
MIRT559406	hsa-miR-548g-5p	PAR-CLIP	21572407
MIRT559405	hsa-miR-548x-5p	PAR-CLIP	21572407
MIRT559404	hsa-miR-1468-3p	PAR-CLIP	21572407
MIRT559403	hsa-miR-153-3p	PAR-CLIP	21572407
MIRT559402	hsa-miR-448	PAR-CLIP	21572407
MIRT559401	hsa-miR-450b-5p	PAR-CLIP	21572407
MIRT559400	hsa-miR-507	PAR-CLIP	21572407
MIRT559399	hsa-miR-557	PAR-CLIP	21572407
MIRT559398	hsa-miR-3680-3p	PAR-CLIP	21572407
MIRT539075	hsa-miR-4282	PAR-CLIP	22012620
MIRT539074	hsa-miR-140-3p	PAR-CLIP	22012620
MIRT755695	hsa-miR-211-3p	Luciferase reporter assay, Western blotting, qRT-PCR, ELISA	36569394
MIRT1015906	hsa-miR-1184	CLIP-seq
MIRT1015907	hsa-miR-1245b-5p	CLIP-seq
MIRT1015908	hsa-miR-1290	CLIP-seq
MIRT1015909	hsa-miR-1915	CLIP-seq
MIRT1015910	hsa-miR-3142	CLIP-seq
MIRT1015911	hsa-miR-3165	CLIP-seq
MIRT1015912	hsa-miR-3167	CLIP-seq
MIRT1015913	hsa-miR-3622b-5p	CLIP-seq
MIRT1015914	hsa-miR-3691-5p	CLIP-seq
MIRT1015915	hsa-miR-4302	CLIP-seq
MIRT1015916	hsa-miR-4418	CLIP-seq
MIRT1015917	hsa-miR-4468	CLIP-seq
MIRT1015918	hsa-miR-4493	CLIP-seq
MIRT1015919	hsa-miR-4726-3p	CLIP-seq
MIRT1015920	hsa-miR-4747-5p	CLIP-seq
MIRT1015921	hsa-miR-4752	CLIP-seq
MIRT1015922	hsa-miR-509-3-5p	CLIP-seq
MIRT1015923	hsa-miR-509-5p	CLIP-seq
MIRT1015924	hsa-miR-876-5p	CLIP-seq
MIRT1015925	hsa-miR-891b	CLIP-seq
MIRT1015926	hsa-miR-939	CLIP-seq
MIRT1015927	hsa-miR-3115	CLIP-seq
MIRT1015928	hsa-miR-3119	CLIP-seq
MIRT1015929	hsa-miR-3147	CLIP-seq
MIRT1015930	hsa-miR-3148	CLIP-seq
MIRT1015931	hsa-miR-3155	CLIP-seq
MIRT1015932	hsa-miR-3155b	CLIP-seq
MIRT1015933	hsa-miR-3591-3p	CLIP-seq
MIRT1015934	hsa-miR-3667-3p	CLIP-seq
MIRT1015935	hsa-miR-4287	CLIP-seq
MIRT1015936	hsa-miR-4297	CLIP-seq
MIRT1015937	hsa-miR-4311	CLIP-seq
MIRT1015938	hsa-miR-4425	CLIP-seq
MIRT1015939	hsa-miR-4469	CLIP-seq
MIRT1015940	hsa-miR-4475	CLIP-seq
MIRT1015941	hsa-miR-450b-3p	CLIP-seq
MIRT1015942	hsa-miR-4652-3p	CLIP-seq
MIRT1015943	hsa-miR-4668-5p	CLIP-seq
MIRT1015944	hsa-miR-4684-5p	CLIP-seq
MIRT1015945	hsa-miR-4685-3p	CLIP-seq
MIRT1015946	hsa-miR-4691-5p	CLIP-seq
MIRT1015947	hsa-miR-4778-3p	CLIP-seq
MIRT1015948	hsa-miR-484	CLIP-seq
MIRT1015949	hsa-miR-520g	CLIP-seq
MIRT1015950	hsa-miR-520h	CLIP-seq
MIRT1015951	hsa-miR-642a	CLIP-seq
MIRT1015952	hsa-miR-769-3p	CLIP-seq
MIRT1015953	hsa-miR-942	CLIP-seq
MIRT1015906	hsa-miR-1184	CLIP-seq
MIRT2000764	hsa-miR-122	CLIP-seq
MIRT2000765	hsa-miR-3135b	CLIP-seq
MIRT2000766	hsa-miR-3137	CLIP-seq
MIRT1015913	hsa-miR-3622b-5p	CLIP-seq
MIRT2000767	hsa-miR-3652	CLIP-seq
MIRT1015934	hsa-miR-3667-3p	CLIP-seq
MIRT2000768	hsa-miR-3929	CLIP-seq
MIRT1015936	hsa-miR-4297	CLIP-seq
MIRT1015916	hsa-miR-4418	CLIP-seq
MIRT2000769	hsa-miR-4419b	CLIP-seq
MIRT2000770	hsa-miR-4430	CLIP-seq
MIRT2000771	hsa-miR-4478	CLIP-seq
MIRT2000772	hsa-miR-4659a-3p	CLIP-seq
MIRT2000773	hsa-miR-4659b-3p	CLIP-seq
MIRT1015946	hsa-miR-4691-5p	CLIP-seq
MIRT1015947	hsa-miR-4778-3p	CLIP-seq
MIRT1015922	hsa-miR-509-3-5p	CLIP-seq
MIRT1015923	hsa-miR-509-5p	CLIP-seq
MIRT2000774	hsa-miR-659	CLIP-seq
MIRT2000775	hsa-miR-668	CLIP-seq
MIRT1015946	hsa-miR-4691-5p	CLIP-seq
MIRT1015946	hsa-miR-4691-5p	CLIP-seq
MIRT2000764	hsa-miR-122	CLIP-seq
MIRT2000765	hsa-miR-3135b	CLIP-seq
MIRT1015913	hsa-miR-3622b-5p	CLIP-seq
MIRT2000767	hsa-miR-3652	CLIP-seq
MIRT2000768	hsa-miR-3929	CLIP-seq
MIRT2000769	hsa-miR-4419b	CLIP-seq
MIRT2000770	hsa-miR-4430	CLIP-seq
MIRT2000771	hsa-miR-4478	CLIP-seq
MIRT1015947	hsa-miR-4778-3p	CLIP-seq
MIRT2000775	hsa-miR-668	CLIP-seq

Transcription factors

Show/Hide all(2)

Transcription factor	Regulation	Reference
EGR1	Unknown	9729303
NFKB1	Unknown	9729303

Show/Hide all(53)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000165	Process	MAPK cascade	TAS
GO:0001656	Process	Metanephros development	ISS
GO:0001658	Process	Branching involved in ureteric bud morphogenesis	ISS
GO:0001755	Process	Neural crest cell migration	IDA	15242795
GO:0001759	Process	Organ induction	IEA
GO:0001941	Process	Postsynaptic membrane organization	IEA
GO:0003337	Process	Mesenchymal to epithelial transition involved in metanephros morphogenesis	IEA
GO:0005102	Function	Signaling receptor binding	TAS	10829012
GO:0005515	Function	Protein binding	IPI	21994944, 23333276, 25416956
GO:0005576	Component	Extracellular region	IDA	9811930
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0005794	Component	Golgi apparatus	IDA	21994944
GO:0007165	Process	Signal transduction	TAS	7830769
GO:0007399	Process	Nervous system development	TAS	22998873
GO:0007411	Process	Axon guidance	TAS
GO:0007422	Process	Peripheral nervous system development	IBA	21873635
GO:0008083	Function	Growth factor activity	IBA	21873635
GO:0008284	Process	Positive regulation of cell population proliferation	IDA	22897442
GO:0008344	Process	Adult locomotory behavior	TAS	12358785
GO:0010468	Process	Regulation of gene expression	IGI	22897442
GO:0021516	Process	Dorsal spinal cord development	ISS
GO:0021784	Process	Postganglionic parasympathetic fiber development	ISS
GO:0030116	Function	Glial cell-derived neurotrophic factor receptor binding	IEA
GO:0030432	Process	Peristalsis	ISS
GO:0030971	Function	Receptor tyrosine kinase binding	IEA
GO:0031175	Process	Neuron projection development	IDA	15242795
GO:0031175	Process	Neuron projection development	TAS	22998873
GO:0032770	Process	Positive regulation of monooxygenase activity	IDA	12358785
GO:0033603	Process	Positive regulation of dopamine secretion	TAS	12358785
GO:0042803	Function	Protein homodimerization activity	IDA	8493557, 8988018
GO:0043066	Process	Negative regulation of apoptotic process	TAS	7830769
GO:0043524	Process	Negative regulation of neuron apoptotic process	IBA	21873635
GO:0043524	Process	Negative regulation of neuron apoptotic process	IDA	8493557
GO:0045597	Process	Positive regulation of cell differentiation	IGI	22897442
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	12358785
GO:0048255	Process	MRNA stabilization	IDA	12358785
GO:0048484	Process	Enteric nervous system development	ISS
GO:0048485	Process	Sympathetic nervous system development	ISS
GO:0048568	Process	Embryonic organ development	ISS
GO:0051584	Process	Regulation of dopamine uptake involved in synaptic transmission	IDA	8493557
GO:0060676	Process	Ureteric bud formation	IEA
GO:0060688	Process	Regulation of morphogenesis of a branching structure	ISS
GO:0061642	Process	Chemoattraction of axon	IEA
GO:0071679	Process	Commissural neuron axon guidance	ISS
GO:0072107	Process	Positive regulation of ureteric bud formation	IDA	8657307
GO:0072108	Process	Positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis	IEA
GO:0090190	Process	Positive regulation of branching involved in ureteric bud morphogenesis	IBA	21873635
GO:0090190	Process	Positive regulation of branching involved in ureteric bud morphogenesis	IDA	8657307, 17229286
GO:1902379	Function	Chemoattractant activity involved in axon guidance	TAS	22998873
GO:2000736	Process	Regulation of stem cell differentiation	TAS	23626767
GO:2001240	Process	Negative regulation of extrinsic apoptotic signaling pathway in absence of ligand	IDA	10921886
GO:2001260	Process	Regulation of semaphorin-plexin signaling pathway	ISS

MIM	HGNC	e!Ensembl
600837	4232	ENSG00000168621

Protein

UniProt ID

P39905

Protein name

Glial cell line-derived neurotrophic factor (hGDNF) (Astrocyte-derived trophic factor) (ATF)

Protein function

Neurotrophic factor that enhances survival and morphological differentiation of dopaminergic neurons and increases their high-affinity dopamine uptake (PubMed:8493557). Acts by binding to its coreceptor, GFRA1, leading to autophosphorylation and

PDB

2V5E , 3FUB , 4UX8 , 6Q2N

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00019	TGF_beta	117 → 210	Transforming growth factor beta like domain	Domain

Tissue specificity

TISSUE SPECIFICITY: In the brain, predominantly expressed in the striatum with highest levels in the caudate and lowest in the putamen. Isoform 2 is absent from most tissues except for low levels in intestine and kidney. Highest expression of isoform 3 is

Sequence

MKLWDVVAVCLVLLHTASAFPLPAGKRPPEAPAEDRSLGRRRAPFALSSDSNMPEDYPDQ
FDDVMDFIQATIKRLKRSPDKQMAVLPRRERNRQAAAANPENSRGKGRRGQRGKNRGCVL
TAIHLNVTDLGLGYETKEELIFRYCSGSCDAAETTYDKILKNLSRNRRLVSDKVGQACCR
PIAFDDDLSFLDDNLVYHILRKHSAKRCGCI

Sequence length

211

Interactions

View interactions

	KEGG		Reactome
	MAPK signaling pathway Calcium signaling pathway PI3K-Akt signaling pathway		RAF/MAP kinase cascade RET signaling

Show/Hide Causal Diseases (14)

Disease term	Disease name	dbSNP ID	References
Causal
Anaplastic oligodendroglioma	Anaplastic Oligodendroglioma	rs1568504941	19138852
Congenital central hypoventilation	Congenital central hypoventilation	rs587776626, rs1733878065, rs761018157, rs779557320, rs772448418, rs775006915, rs1733941453, rs73810366	9497256
Ependymoma	Ependymoma, Cellular Ependymoma	rs1555165565, rs1555993293	19138852
Glioblastoma	Glioblastoma, Glioblastoma Multiforme	rs121913500, rs886042842, rs1555138291, rs1558518449, rs1567176006, rs1558650888	19138852
Glioma	Glioma, mixed gliomas, Malignant Glioma	rs121909219, rs121909224, rs587776667, rs587776671, rs121909239, rs121909241, rs28933368, rs121913500, rs55863639, rs786201995, rs786202517, rs786201044, rs398123317, rs1057518425, rs121913499 View all (13 more)	19138852
Haddad syndrome	CCHS WITH HIRSCHSPRUNG DISEASE	rs1297909281, rs587776626, rs1733941453, rs73810366	9497256
Hearing loss	Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359 View all (184 more)
Hemangioma	Hemangioma	rs121917766
Hirschsprung disease	Hirschsprung Disease, Hirschsprung disease	rs76262710, rs75996173, rs77316810, rs75076352, rs76534745, rs76764689, rs76449634, rs377767412, rs193922699, rs75030001, rs606231342, rs1553540620, rs759944122, rs1057519322, rs1057519323 View all (4 more)	8896568, 8968758
Hypercalcemia	Hypercalcemia	rs876657376, rs387907322, rs777676129, rs387907323, rs114368325, rs6068812, rs387907324, rs777947329, rs201304511, rs769409705, rs200095793, rs876661338, rs1554095500, rs139763321, rs774432244, rs781367354 View all (1 more)
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)
Parkinson disease	Parkinsonian Disorders, Parkinson Disease, Secondary Vascular, Autosomal Dominant Juvenile Parkinson Disease, PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE, Parkinson Disease, Secondary Parkinson Disease	rs33939927, rs35801418, rs34805604, rs35870237, rs34995376, rs74315355, rs28940284, rs74315356, rs74315357, rs28940285, rs730880302, rs750664040, rs74315359, rs74315360, rs45539432 View all (84 more)	9266731, 12213621, 19909981, 16324109, 11031079
Pheochromocytoma	Pheochromocytoma	rs121908826, rs121908830, rs121908821, rs5030821, rs5030820, rs104893826, rs5030808, rs587776644, rs80338844, rs104894306, rs104894309, rs75076352, rs75996173, rs77709286, rs74799832 View all (30 more)	9215674
Schizophrenia	Schizophrenia	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346 View all (12 more)	24022000, 15003293, 20116071, 17897812

Show/Hide Unknown Diseases (10)

Disease term	Disease name	Evidence	References	Source
Unknown
Anaplastic ependymoma	Anaplastic Ependymoma		19138852	ClinVar
Congestive heart failure	Congestive heart failure			ClinVar
Huntington disease	Huntington Disease, Huntington Disease, Late Onset, Juvenile Huntington Disease		16943855	ClinVar
Mental depression	Unipolar Depression, Major Depressive Disorder		21223624, 24577123, 18313696, 22152193	ClinVar
Oligodendroglioma	oligodendroglioma, Adult Oligodendroglioma, Childhood Oligodendroglioma, Well Differentiated Oligodendroglioma		19138852	ClinVar
Mental Depression	Mental Depression			GWAS
Asthma	Asthma			GWAS
Prostate cancer	Prostate cancer	Together, these results show that PRRX2 is an oncogene and might play a role in the aggressiveness of PC within the DNPC population.		GWAS, CBGDA
Biliary Atresia	Biliary Atresia			GWAS
Diabetes	Diabetes			GWAS

Show/Hide Text Mining Associations (106)

Disease Name	Relationship Type	References
Associations from Text Mining
Agnosia	Associate	23650283
Alzheimer Disease	Associate	19395124, 25253858, 28888073
Alzheimer Disease	Inhibit	28918204
Amyotrophic Lateral Sclerosis	Associate	29706501
Anxiety	Associate	24324616
Arthritis Juvenile	Associate	37454049
Asthma	Stimulate	34170009
Atrial Fibrillation	Inhibit	25523945
Attention Deficit Disorder with Hyperactivity	Associate	24324616
Back Pain	Associate	18652760
Bile Duct Neoplasms	Associate	11815973
Breast Neoplasms	Associate	18628976, 19442316, 23650283, 29614078, 37061618
Cakut	Associate	19282698, 22729463
Calcinosis	Associate	25692823
Carcinoma Adenoid Cystic	Associate	33628594
Carcinoma Lobular	Associate	18628976
Carcinoma Renal Cell	Associate	33112109
Cognitive Dysfunction	Associate	19395124
Cognitive Dysfunction	Inhibit	28888073
Colitis Ulcerative	Stimulate	21235736
Colitis Ulcerative	Associate	21830274
Colorectal Neoplasms	Associate	28540987, 30383193, 31341364, 33858496, 34698107
Communicable Diseases	Stimulate	21235736
COVID 19	Associate	37398658
Crohn Disease	Inhibit	21235736
Cystic Adenomatoid Malformation of Lung Congenital	Associate	11900567
Depressive Disorder	Associate	28819313
Depressive Disorder Major	Associate	28819313
Diabetes Mellitus	Associate	37754589
Diverticular Diseases	Inhibit	23805210, 28152033
Diverticular Diseases	Associate	31019703
Diverticulum	Inhibit	28152033
Drug Related Side Effects and Adverse Reactions	Inhibit	26215053
Endocrine System Diseases	Associate	29608602, 29614078, 36765275
Enteritis	Associate	10978357
Fatty Liver	Inhibit	36613525
Fibrocartilaginous embolism	Associate	37958856
Fibrosis	Associate	35855954
Fraser Syndrome	Associate	29197384
Gastroesophageal Reflux	Associate	26337663
Glaucoma	Associate	12813408
Glioblastoma	Associate	20547774, 30176167, 32183903
Glioma	Associate	28212546, 35894143
Glioma	Stimulate	29224008, 30695072
Glycosuria Renal	Associate	22729463
Hepatitis B Chronic	Associate	35855954
Hereditary renal agenesis	Associate	22729463
Hirschsprung Disease	Associate	10204848, 10978357, 12065680, 19282698, 19925665, 21858136, 23805210
Hodgkin Disease	Associate	21385932
Hyperparathyroidism	Associate	29983117
Inflammation	Associate	21235736, 21830274, 29246232
Inflammation	Stimulate	23650283
Inflammatory Bowel Diseases	Associate	26294673
Insulin Resistance	Inhibit	36613525
Internal Hernia	Associate	25913759
Intestinal Pseudo Obstruction	Associate	28152033
Kidney Diseases	Associate	18252215, 36408280
Kidney Neoplasms	Associate	33112109
Leukemia Myeloid Acute	Associate	9108413
Lymphoma Large B Cell Diffuse	Associate	18288132
Medullary Sponge Kidney	Associate	20448065, 25692823, 29983117
Melanoma Cutaneous Malignant	Associate	19561646, 22189301
Mental Disorders	Associate	24324616
Multiple Endocrine Neoplasia Type 2a	Associate	22189301
Multiple Sclerosis	Associate	21152067
Neoplasm Metastasis	Associate	18652760, 34698107, 36808605
Neoplasms	Associate	11815973, 18288132, 19561646, 20233874, 25575823, 28540987, 36615849, 36808605, 37061618
Neoplasms	Stimulate	32438692
Nephrocalcinosis	Associate	29208768
Nerve Degeneration	Associate	20395301, 23805210, 38201277
Nervous System Diseases	Associate	14686749
Neuroblastoma	Associate	12358785, 12914961, 17388787, 19320641, 8798576
Neurodegenerative Diseases	Associate	26215053, 30711515
Neuroectodermal Tumors	Associate	15966897
Neurotoxicity Syndromes	Associate	32545801
Non alcoholic Fatty Liver Disease	Inhibit	36613525
Oculocutaneous albinism type 1B	Associate	25913759
Osteoarthritis	Associate	34856957
Pain	Associate	14686749, 37454049, 37958856
Pancreatic Neoplasms	Associate	18652760, 23270819, 32438692
Parkinson Disease	Associate	12882651, 20395301, 24324616, 25061293, 29706501, 33935108, 40395017
Parkinson Disease	Inhibit	36768317
Peripheral Nervous System Diseases	Associate	30648113
Postoperative Cognitive Complications	Inhibit	28918204
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	21972289
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	10233387
Primary Myelofibrosis	Associate	27341078
Prostatic Neoplasms	Associate	25575823
Reperfusion Injury	Associate	30186861
Rheumatic Heart Disease	Associate	28918204
Schizophrenia	Associate	24324616
Sleep Apnea Obstructive	Associate	20538960, 33530245, 33688499
Sleep Apnea Obstructive	Inhibit	33688499
Spinal Dysraphism	Associate	35505001
Stomach Neoplasms	Associate	19375421, 36615849, 36808605
Stroke	Associate	28819313
Substance Related Disorders	Associate	24324616
Tarlov Cysts	Stimulate	11815973
Tarlov Cysts	Associate	18652760, 23270819
Thyroiditis Autoimmune	Inhibit	32597152
Tooth Erosion	Stimulate	27512850
Tourette Syndrome	Associate	26096985
Triple Negative Breast Neoplasms	Associate	34326372
Uterine Cervical Neoplasms	Associate	25830725
Weight Loss	Inhibit	21147860
Wounds and Injuries	Inhibit	26215053

GDNF (glial cell derived neurotrophic factor)