GDNF (glial cell derived neurotrophic factor)

Gene

• Entrez ID: 2668
• Gene name: Glial cell derived neurotrophic factor
• Gene symbol: GDNF
• Synonyms: ATF, ATF1, ATF2, HFB1-GDNF, HSCR3
• Chromosome: 5
• Chromosome location: 5p13.2
• Summary: 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

SNPs

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

miRNA

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

Transcription factor	Regulation	Reference
EGR1	Unknown	9729303
NFKB1	Unknown	9729303

Gene ontology (GO)

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

Other IDs

• MIM: 600837
• HGNC: 4232
• e!Ensembl: 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

• Sequence:

  MKLWDVVAVCLVLLHTASAFPLPAGKRPPEAPAEDRSLGRRRAPFALSSDSNMPEDYPDQ
  FDDVMDFIQATIKRLKRSPDKQMAVLPRRERNRQAAAANPENSRGKGRRGQRGKNRGCVL
  TAIHLNVTDLGLGYETKEELIFRYCSGSCDAAETTYDKILKNLSRNRRLVSDKVGQACCR
  PIAFDDDLSFLDDNLVYHILRKHSAKRCGCI

• Sequence length: 211

Pathways

KEGG:

MAPK signaling pathway
Calcium signaling pathway
PI3K-Akt signaling pathway

Reactome:

RAF/MAP kinase cascade
RET signaling

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Anaplastic oligodendroglioma	Anaplastic Oligodendroglioma	rs1568504941	19138852
Congenital central hypoventilation	Congenital central hypoventilation	rs587776626, rs1733878065, rs761018157, rs779557320, rs772448418, rs775006915, rs1733941453, rs73810366	9497256
Ependymoma	Cellular Ependymoma, 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, rs1060500122, rs781647403, rs1060500126, rs1554897889, rs1114167629, rs1114167656, rs587782603, rs1554893824, rs1554900615, rs1564568660, rs786204900, rs762518389, rs1339631701	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, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Hemangioma	Hemangioma	rs119475040, rs121917766
Hirschsprung disease	Hirschsprung Disease	rs104893891, rs76262710, rs75075748, rs75996173, rs79014735, rs77316810, rs75076352, rs76087194, rs76534745, rs76764689, rs76449634, rs78098482, rs79661516, rs104894389, rs769735757, rs267606780, rs1568823467, rs377767412, rs193922699, rs75030001, rs606231342, rs1553540620, rs759944122, rs1057519322, rs1057519323, rs1057519052, rs1588873476, rs1588866040, rs1838178869	8896568, 8968758
Hypercalcemia	Hypercalcemia	rs876657376, rs387907322, rs777676129, rs387907323, rs114368325, rs6068812, rs387907324, rs777947329, rs201304511, rs769409705, rs200095793, rs876661338, rs1554095500, rs139763321, rs774432244, rs781367354
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Parkinson disease	Parkinsonian Disorders, Parkinson Disease, Secondary Vascular, Autosomal Dominant Juvenile Parkinson Disease, PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE, Parkinson Disease, Secondary Parkinson Disease	rs116074753, rs118203903, rs118203904, rs115735611, rs33939927, rs35801418, rs34805604, rs35870237, rs34995376, rs74315355, rs28940284, rs74315356, rs74315357, rs28940285, rs730880302, rs750664040, rs74315359, rs74315360, rs45539432, rs74315361, rs119451946, rs80356771, rs74500255, rs75822236, rs1141814, rs78973108, rs121908681, rs121908686, rs121908687, rs137853054, rs137853055, rs137853056, rs137853057, rs137853058, rs137853059, rs34424986, rs137853060, rs397518439, rs28938172, rs74315351, rs74315353, rs137853051, rs118192098, rs121917767, rs121918104, rs1589451049, rs104893877, rs104893878, rs283413, rs112176450, rs111290936, rs188286943, rs387906863, rs387906864, rs774631197, rs199935023, rs387906942, rs397514694, rs398122403, rs398122404, rs398122405, rs104886460, rs409652, rs431905511, rs63751392, rs756677845, rs864309527, rs864309650, rs750014782, rs1554391082, rs864622011, rs869312810, rs869312809, rs869312811, rs369100678, rs879253853, rs869320761, rs747506979, rs879255630, rs886039854, rs191486604, rs781442277, rs1060499619, rs751037529, rs55777503, rs768091663, rs34208370, rs1553122929, rs772786691, rs754809877, rs1555907463, rs1557561340, rs781600849, rs141263564, rs1557901552, rs777160388, rs756783990, rs867929413, rs1237637353, rs1005937012, rs755000580, rs747427602, rs1578089802, rs771586218, rs748142049, rs1582953433, rs746646126, rs771529549, rs121918106	9266731, 12213621, 19909981, 16324109, 11031079
Pheochromocytoma	Pheochromocytoma	rs121908826, rs121908830, rs121908821, rs5030821, rs5030820, rs104893826, rs5030808, rs587776644, rs80338844, rs104894306, rs104894309, rs75076352, rs75996173, rs77709286, rs74799832, rs387906651, rs121908813, rs121908822, rs121908814, rs121908825, rs121908827, rs121908829, rs121908831, rs121908815, rs587781773, rs786203251, rs786202100, rs864321636, rs864321638, rs864321639, rs864321643, rs864321641, rs864321642, rs864321640, rs864321644, rs876659130, rs876658477, rs878854594, rs886039439, rs886041237, rs121908816, rs1131691061, rs760169139, rs780133289, rs1558752379	9215674
Schizophrenia	Schizophrenia	rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	24022000, 15003293, 20116071, 17897812

Unknown
Disease name	Disease term	dbSNP ID	References
Akinetic-rigid variant of huntington disease	Akinetic-Rigid Variant of Huntington Disease		16943855
Anaplastic ependymoma	Anaplastic Ependymoma	rs147045425, rs200431130, rs765980348	19138852
Atherosclerotic parkinsonism	Atherosclerotic Parkinsonism		19909981
Bipolar disorder	Bipolar Disorder		18313696, 24997227
Cardiovascular abnormalities	Cardiovascular Abnormalities
Colonic aganglionosis	Aganglionosis, Colonic, Aganglionosis, Rectosigmoid Colon		8968758, 8896568, 8896568, 8968758
Congenital intestinal aganglionosis	Congenital Intestinal Aganglionosis		8968758, 8896568
Congestive heart failure	Congestive heart failure	rs2301610, rs3833910, rs12301951, rs201674674, rs186741807, rs150140412, rs786205727, rs757840030, rs552050895, rs759465783, rs201978086, rs572757800, rs1572143354, rs749160569
Degenerative diseases, central nervous system	Degenerative Diseases, Central Nervous System, Degenerative Diseases, Spinal Cord		11592846
Dwarfism	Dwarfism
Dyskinesia	Dyskinesia, Drug-Induced		11168568
Extra-adrenal pheochromocytoma	Pheochromocytoma, Extra-Adrenal		9215674
Ganglioneuroblastoma	Ganglioneuroblastoma
Ganglioneuroma	Ganglioneuroma
Giant cell glioblastoma	Giant Cell Glioblastoma		19138852
Grand mal status epilepticus	Grand Mal Status Epilepticus		12914250, 7854063
Hereditary paraganglioma-pheochromocytoma syndromes	Hereditary Paraganglioma-Pheochromocytoma Syndrome		9215674
Huntington disease	Huntington Disease, Huntington Disease, Late Onset, Juvenile Huntington Disease	rs768047421	16943855
Hypertensive retinopathy	Hypertensive Retinopathy
Impaired cognition	Impaired cognition
Intestinal obstruction	Intestinal Obstruction
Intestinal polyposis	Intestinal Polyposis
Lung diseases	Lung diseases
Mental depression	Unipolar Depression, Major Depressive Disorder	rs587778876, rs587778877	21223624, 24577123, 18313696, 22152193, 18313696, 21223624, 24577123, 22152193
Mixed oligodendroglioma-astrocytoma	Mixed Oligodendroglioma-Astrocytoma		19138852
Mixed oligodendroglioma-ependymoma	Mixed Oligodendroglioma-Ependymoma		19138852
Mouth abnormalities	Mouth Abnormalities
Myxopapillary ependymoma	Myxopapillary ependymoma		19138852
Neoplasms	Neoplasms
Neurodegenerative disorders	Neurodegenerative Disorders		11592846
Nonconvulsive status epilepticus	Non-Convulsive Status Epilepticus		12914250, 7854063
Oligodendroblastoma	Oligodendroblastoma		19138852
Oligodendroglioma	oligodendroglioma, Adult Oligodendroglioma, Childhood Oligodendroglioma, Well Differentiated Oligodendroglioma	rs1568503055, rs1569535987	19138852
Ondine syndrome	Ondine syndrome
Papillary ependymoma	Papillary ependymoma		19138852
Parkinsonian disease	Autosomal Dominant Parkinsonism, Autosomal Recessive Parkinsonism, Familial Juvenile Parkinsonism, Parkinsonism, Juvenile		12213621, 9266731, 9266731, 12213621
Paroxysmal hypertension	Paroxysmal hypertension
Petit mal status	Petit mal status		7854063, 12914250
Posteriorly rotated ear	Posteriorly rotated ear
Ramsay hunt paralysis syndrome	Ramsay Hunt Paralysis Syndrome		12213621, 9266731
Renal artery stenosis	Renal Artery Stenosis
Status epilepticus	Status Epilepticus, Complex Partial Status Epilepticus, Status Epilepticus, Subclinical		12914250, 7854063, 7854063, 12914250
Thyroid neoplasm	Thyroid Neoplasm