PDGFB (platelet derived growth factor subunit B)

Gene

• Entrez ID: 5155
• Gene name: Platelet derived growth factor subunit B
• Gene symbol: PDGFB
• Synonyms: IBGC5, PDGF-2, PDGF2, SIS, SSV, c-sis
• Chromosome: 22
• Chromosome location: 22q13.1
• Summary: This gene encodes a member of the protein family comprised of both platelet-derived growth factors (PDGF) and vascular endothelial growth factors (VEGF). The encoded preproprotein is proteolytically processed to generate platelet-derived growth factor subunit B, which can homodimerize, or alternatively, heterodimerize with the related platelet-derived growth factor subunit A. These proteins bind and activate PDGF receptor tyrosine kinases, which play a role in a wide range of developmental processes. Mutations in this gene are associated with meningioma. Reciprocal translocations between chromosomes 22 and 17, at sites where this gene and that for collagen type 1, alpha 1 are located, are associated with dermatofibrosarcoma protuberans, a rare skin tumor. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs397515631	G>A	Pathogenic	Stop gained, coding sequence variant
rs397515632	A>G	Pathogenic	Missense variant, coding sequence variant
rs397515633	G>A	Pathogenic	Stop gained, coding sequence variant
rs398122398	C>G	Pathogenic	Terminator codon variant, stop lost
rs398122399	C>T	Pathogenic	Initiator codon variant, missense variant, genic upstream transcript variant
rs1057520576	A>C	Pathogenic	Genic upstream transcript variant, initiator codon variant, missense variant
rs1601596820	C>G	Likely-pathogenic	Splice acceptor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT005548	hsa-miR-146b-3p	ELISA, Immunoblot, Microarray, qRT-PCR	21266476
MIRT029444	hsa-miR-26b-5p	Microarray	19088304
MIRT053627	hsa-let-7f-5p	Microarray	22942087
MIRT053627	hsa-let-7f-5p	PAR-CLIP	27292025
MIRT438914	hsa-miR-29b-3p	Luciferase reporter assay, qRT-PCR	23354167
MIRT492764	hsa-miR-6079	PAR-CLIP	23592263
MIRT492765	hsa-miR-625-5p	PAR-CLIP	23592263
MIRT492766	hsa-miR-5196-5p	PAR-CLIP	23592263
MIRT492767	hsa-miR-4747-5p	PAR-CLIP	23592263
MIRT492768	hsa-miR-6733-5p	PAR-CLIP	23592263
MIRT492769	hsa-miR-6739-5p	PAR-CLIP	23592263
MIRT492770	hsa-miR-3153	PAR-CLIP	23592263
MIRT492771	hsa-miR-3202	PAR-CLIP	23592263
MIRT492772	hsa-miR-4533	PAR-CLIP	23592263
MIRT492773	hsa-miR-3179	PAR-CLIP	23592263
MIRT492774	hsa-miR-6794-5p	PAR-CLIP	23592263
MIRT492775	hsa-miR-4716-3p	PAR-CLIP	23592263
MIRT492776	hsa-miR-519c-3p	PAR-CLIP	23592263
MIRT492777	hsa-miR-519b-3p	PAR-CLIP	23592263
MIRT492778	hsa-miR-519a-3p	PAR-CLIP	23592263
MIRT492779	hsa-miR-526b-3p	PAR-CLIP	23592263
MIRT492780	hsa-miR-519d-3p	PAR-CLIP	23592263
MIRT492781	hsa-miR-106a-5p	PAR-CLIP	23592263
MIRT492782	hsa-miR-17-5p	PAR-CLIP	23592263
MIRT492783	hsa-miR-106b-5p	PAR-CLIP	23592263
MIRT492784	hsa-miR-20b-5p	PAR-CLIP	23592263
MIRT492785	hsa-miR-93-5p	PAR-CLIP	23592263
MIRT492786	hsa-miR-20a-5p	PAR-CLIP	23592263
MIRT732746	hsa-miR-184	Immunoblot, Luciferase reporter assay, qRT-PCR	27825105
MIRT738362	hsa-miR-1909-3p	PAR-CLIP	26701625
MIRT738362	hsa-miR-1909-3p	PAR-CLIP	27292025
MIRT739986	hsa-miR-3122	PAR-CLIP	26701625
MIRT740010	hsa-miR-3125	PAR-CLIP	26701625
MIRT742906	hsa-miR-3916	PAR-CLIP	26701625
MIRT744437	hsa-miR-4436a	PAR-CLIP	26701625
MIRT746335	hsa-miR-4640-5p	PAR-CLIP	26701625
MIRT747764	hsa-miR-4726-5p	PAR-CLIP	26701625
MIRT749324	hsa-miR-5000-3p	PAR-CLIP	26701625
MIRT752323	hsa-miR-6132	PAR-CLIP	26701625
MIRT752323	hsa-miR-6132	PAR-CLIP	27292025
MIRT753875	hsa-miR-6722-3p	PAR-CLIP	26701625
MIRT753875	hsa-miR-6722-3p	PAR-CLIP	27292025
MIRT757217	hsa-miR-6836-5p	PAR-CLIP	26701625
MIRT757217	hsa-miR-6836-5p	PAR-CLIP	27292025
MIRT757826	hsa-miR-6859-5p	PAR-CLIP	26701625
MIRT758802	hsa-miR-6895-5p	PAR-CLIP	26701625
MIRT760973	hsa-let-7a-5p	PAR-CLIP	27292025
MIRT760986	hsa-let-7b-5p	PAR-CLIP	27292025
MIRT760999	hsa-let-7c-5p	PAR-CLIP	27292025
MIRT761010	hsa-let-7d-5p	PAR-CLIP	27292025
MIRT761019	hsa-let-7e-5p	PAR-CLIP	27292025
MIRT761046	hsa-let-7g-5p	PAR-CLIP	27292025
MIRT761056	hsa-let-7i-5p	PAR-CLIP	27292025
MIRT762656	hsa-miR-143-3p	PAR-CLIP	27292025
MIRT766227	hsa-miR-363-5p	PAR-CLIP	27292025
MIRT767083	hsa-miR-3689d	PAR-CLIP	27292025
MIRT767742	hsa-miR-3927-3p	PAR-CLIP	27292025
MIRT769189	hsa-miR-4451	PAR-CLIP	27292025
MIRT769225	hsa-miR-4458	PAR-CLIP	27292025
MIRT769805	hsa-miR-4500	PAR-CLIP	27292025
MIRT772190	hsa-miR-4770	PAR-CLIP	27292025
MIRT772683	hsa-miR-488-3p	PAR-CLIP	27292025
MIRT774943	hsa-miR-5681a	PAR-CLIP	27292025
MIRT775726	hsa-miR-6088	PAR-CLIP	27292025
MIRT777972	hsa-miR-6730-5p	PAR-CLIP	27292025
MIRT778195	hsa-miR-6745	PAR-CLIP	27292025
MIRT778433	hsa-miR-6758-5p	PAR-CLIP	27292025
MIRT780009	hsa-miR-6831-5p	PAR-CLIP	27292025
MIRT780018	hsa-miR-6832-5p	PAR-CLIP	27292025
MIRT780419	hsa-miR-6851-5p	PAR-CLIP	27292025
MIRT780495	hsa-miR-6856-5p	PAR-CLIP	27292025
MIRT780843	hsa-miR-6880-5p	PAR-CLIP	27292025
MIRT782160	hsa-miR-7847-3p	PAR-CLIP	27292025
MIRT783011	hsa-miR-98-5p	PAR-CLIP	27292025

Transcription factors

Transcription factor	Regulation	Reference
EGR1	Activation	16092976
ELK1	Unknown	9690620
FOXO1	Unknown	19244250
SP1	Unknown	22415074

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	TAS
GO:0000165	Process	MAPK cascade	TAS
GO:0001892	Process	Embryonic placenta development	ISS
GO:0001938	Process	Positive regulation of endothelial cell proliferation	IDA	9685360
GO:0002548	Process	Monocyte chemotaxis	IDA	17991872
GO:0002576	Process	Platelet degranulation	TAS
GO:0003104	Process	Positive regulation of glomerular filtration	ISS
GO:0005161	Function	Platelet-derived growth factor receptor binding	IBA	21873635
GO:0005161	Function	Platelet-derived growth factor receptor binding	IDA	2439522, 2836953
GO:0005161	Function	Platelet-derived growth factor receptor binding	IPI	2536956
GO:0005161	Function	Platelet-derived growth factor receptor binding	NAS	1661670
GO:0005515	Function	Protein binding	IPI	2536956, 7679113, 10806482, 11297552, 12070119, 17981115, 20534510, 32296183
GO:0005518	Function	Collagen binding	IDA	8900172
GO:0005576	Component	Extracellular region	NAS	1661670
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0005737	Component	Cytoplasm	ISS
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005796	Component	Golgi lumen	TAS
GO:0006468	Process	Protein phosphorylation	IDA	17942966
GO:0007507	Process	Heart development	ISS
GO:0008083	Function	Growth factor activity	IDA	12070119
GO:0008284	Process	Positive regulation of cell population proliferation	IBA	21873635
GO:0008284	Process	Positive regulation of cell population proliferation	IDA	2439522, 2836953, 7073684
GO:0009611	Process	Response to wounding	IDA	2538439
GO:0009611	Process	Response to wounding	NAS	1661670
GO:0009986	Component	Cell surface	IDA	291037, 2538439, 2836953, 9685360
GO:0010512	Process	Negative regulation of phosphatidylinositol biosynthetic process	IDA	2538439
GO:0010544	Process	Negative regulation of platelet activation	IDA	2538439
GO:0010628	Process	Positive regulation of gene expression	IDA	23554459, 24008408
GO:0010629	Process	Negative regulation of gene expression	IDA	23554459, 25089138
GO:0010811	Process	Positive regulation of cell-substrate adhesion	IDA	19126672
GO:0014068	Process	Positive regulation of phosphatidylinositol 3-kinase signaling	IBA	21873635
GO:0014068	Process	Positive regulation of phosphatidylinositol 3-kinase signaling	IDA	10734101, 11788434, 17942966, 19126672
GO:0014911	Process	Positive regulation of smooth muscle cell migration	IDA	9409235
GO:0016176	Function	Superoxide-generating NADPH oxidase activator activity	IDA	17942966
GO:0016323	Component	Basolateral plasma membrane	ISS
GO:0018105	Process	Peptidyl-serine phosphorylation	IDA	16530387
GO:0018108	Process	Peptidyl-tyrosine phosphorylation	IDA	10734101, 16530387
GO:0030097	Process	Hemopoiesis	IMP	11264163
GO:0030198	Process	Extracellular matrix organization	TAS
GO:0030335	Process	Positive regulation of cell migration	IBA	21873635
GO:0030335	Process	Positive regulation of cell migration	IDA	11788434, 21245381
GO:0031093	Component	Platelet alpha granule lumen	TAS
GO:0031954	Process	Positive regulation of protein autophosphorylation	IBA	21873635
GO:0031954	Process	Positive regulation of protein autophosphorylation	IDA	12070119, 16530387
GO:0032091	Process	Negative regulation of protein binding	IDA	22619279
GO:0032147	Process	Activation of protein kinase activity	IDA	16530387
GO:0032148	Process	Activation of protein kinase B activity	IDA	16530387
GO:0035655	Process	Interleukin-18-mediated signaling pathway	IDA	21321938
GO:0035793	Process	Positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway	IDA	19019919
GO:0038001	Process	Paracrine signaling	ISS
GO:0042056	Function	Chemoattractant activity	IDA	21245381
GO:0042802	Function	Identical protein binding	IPI	1396586, 7679113, 23139410
GO:0042803	Function	Protein homodimerization activity	IDA	2836953
GO:0043406	Process	Positive regulation of MAP kinase activity	IBA	21873635
GO:0043406	Process	Positive regulation of MAP kinase activity	IDA	9685360, 11788434, 16530387, 17942966
GO:0043410	Process	Positive regulation of MAPK cascade	IMP	11788434
GO:0043536	Process	Positive regulation of blood vessel endothelial cell migration	IDA	9685360
GO:0043552	Process	Positive regulation of phosphatidylinositol 3-kinase activity	IDA	16530387
GO:0045737	Process	Positive regulation of cyclin-dependent protein serine/threonine kinase activity	IDA	16530387
GO:0045840	Process	Positive regulation of mitotic nuclear division	IDA	10644978, 10734101, 17942966
GO:0045892	Process	Negative regulation of transcription, DNA-templated	IDA	16530387, 25089138
GO:0045893	Process	Positive regulation of transcription, DNA-templated	IDA	16530387, 17324121
GO:0046982	Function	Protein heterodimerization activity	IPI	7073684
GO:0048008	Process	Platelet-derived growth factor receptor signaling pathway	IBA	21873635
GO:0048008	Process	Platelet-derived growth factor receptor signaling pathway	IDA	2439522, 2536956, 2836953, 19088079, 21245381, 23554459
GO:0048146	Process	Positive regulation of fibroblast proliferation	IDA	2439522, 10644978, 17324121
GO:0048407	Function	Platelet-derived growth factor binding	IPI	7073684
GO:0048661	Process	Positive regulation of smooth muscle cell proliferation	IDA	21321938
GO:0050731	Process	Positive regulation of peptidyl-tyrosine phosphorylation	IDA	21245381
GO:0050918	Process	Positive chemotaxis	IEA
GO:0050921	Process	Positive regulation of chemotaxis	IDA	9409235, 19019919
GO:0051781	Process	Positive regulation of cell division	IEA
GO:0051897	Process	Positive regulation of protein kinase B signaling	TAS
GO:0060326	Process	Cell chemotaxis	IDA	16014047, 17991872, 21245381
GO:0061098	Process	Positive regulation of protein tyrosine kinase activity	IDA	16530387
GO:0062023	Component	Collagen-containing extracellular matrix	HDA	23979707
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IBA	21873635
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IDA	11788434, 16530387, 17942966
GO:0070528	Process	Protein kinase C signaling	IMP	24008408
GO:0070851	Function	Growth factor receptor binding	IBA	21873635
GO:0071363	Process	Cellular response to growth factor stimulus	IDA	21245381
GO:0071506	Process	Cellular response to mycophenolic acid	ISS
GO:0072126	Process	Positive regulation of glomerular mesangial cell proliferation	IDA	11788434, 16014047
GO:0072255	Process	Metanephric glomerular mesangial cell development	ISS
GO:0072593	Process	Reactive oxygen species metabolic process	IMP	17942966
GO:0090280	Process	Positive regulation of calcium ion import	IDA	19019919
GO:1900127	Process	Positive regulation of hyaluronan biosynthetic process	IDA	17324121
GO:1902894	Process	Negative regulation of pri-miRNA transcription by RNA polymerase II	IDA	26493107
GO:1902895	Process	Positive regulation of pri-miRNA transcription by RNA polymerase II	IDA	19088079
GO:1904707	Process	Positive regulation of vascular associated smooth muscle cell proliferation	IDA	12070119, 19088079, 23554459
GO:1904754	Process	Positive regulation of vascular associated smooth muscle cell migration	IDA	12070119, 19088079, 23554459
GO:1905064	Process	Negative regulation of vascular associated smooth muscle cell differentiation	IDA	19088079
GO:1905176	Process	Positive regulation of vascular associated smooth muscle cell dedifferentiation	IDA	19088079
GO:2000379	Process	Positive regulation of reactive oxygen species metabolic process	IDA	19019919
GO:2000573	Process	Positive regulation of DNA biosynthetic process	IDA	10644978, 10734101, 11788434, 12070119, 16530387, 17942966, 19019919
GO:2000591	Process	Positive regulation of metanephric mesenchymal cell migration	IDA	10734101

Other IDs

• MIM: 190040
• HGNC: 8800
• e!Ensembl: ENSG00000100311

Protein

• UniProt ID: P01127
• Protein name: Platelet-derived growth factor subunit B (PDGF subunit B) (PDGF-2) (Platelet-derived growth factor B chain) (Platelet-derived growth factor beta polypeptide) (Proto-oncogene c-Sis) (Becaplermin)
• Protein function: Growth factor that plays an essential role in the regulation of embryonic development, cell proliferation, cell migration, survival and chemotaxis. Potent mitogen for cells of mesenchymal origin (PubMed:26599395). Required for normal proliferation and recruitment of pericytes and vascular smooth muscle cells in the central nervous system, skin, lung, heart and placenta. Required for normal blood vessel development, and for normal development of kidney glomeruli. Plays an important role in wound healing. Signaling is modulated by the formation of heterodimers with PDGFA (By similarity).
• PDB: 1PDG, 3MJG, 4HQU, 4HQX, 4QCI, 6T9E
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04692	PDGF_N	21 → 93	Platelet-derived growth factor, N terminal region	Family
  PF00341	PDGF	97 → 180	PDGF/VEGF domain	Domain

• Sequence:

  MNRCWALFLSLCCYLRLVSAEGDPIPEELYEMLSDHSIRSFDDLQRLLHGDPGEEDGAEL
  DLNMTRSHSGGELESLARGRRSLGSLTIAEPAMIAECKTRTEVFEISRRLIDRTNANFLV
  WPPCVEVQRCSGCCNNRNVQCRPTQVQLRPVQVRKIEIVRKKPIFKKATVTLEDHLACKC
  ETVAAARPVTRSPGGSQEQRAKTPQTRVTIRTVRVRRPPKGKHRKFKHTHDKTALKETLG
  A

• Sequence length: 241

Pathways

KEGG:

EGFR tyrosine kinase inhibitor resistance
MAPK signaling pathway
Ras signaling pathway
Rap1 signaling pathway
Calcium signaling pathway
Phospholipase D signaling pathway
PI3K-Akt signaling pathway
Focal adhesion
Gap junction
JAK-STAT signaling pathway
Regulation of actin cytoskeleton
Kaposi sarcoma-associated herpesvirus infection
Pathways in cancer
MicroRNAs in cancer
Renal cell carcinoma
Glioma
Prostate cancer
Melanoma
Choline metabolism in cancer
Fluid shear stress and atherosclerosis

Reactome:

Platelet degranulation
PIP3 activates AKT signaling
Downstream signal transduction
Signaling by PDGF
Constitutive Signaling by Aberrant PI3K in Cancer
Non-integrin membrane-ECM interactions
RAF/MAP kinase cascade
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs-1, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Parkinson disease	Parkinsonian Disorders	rs116074753, rs118203903, rs118203904, rs115735611, rs33939927, rs35801418, rs34805604, rs35870237, rs34995376, rs74315355, rs28940284, rs74315356, rs74315357, rs28940285, rs730880302, rs750664040, rs-1, 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
Hypothyroidism	Secondary hypothyroidism	rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912, rs121917847, rs104893655, rs104893657, rs104893658, rs104893659, rs104893660, rs104893656, rs121917719, rs786204790, rs189261858, rs879255608, rs868197660, rs879255609, rs1586744173, rs1586182837, rs771222349, rs1587618417, rs1601844140, rs760832986, rs780982673, rs1603336347, rs1691155605
Meningioma	Meningioma, Familial meningioma	rs587776563, rs121434259, rs-1, rs387906857, rs397509405, rs397509406, rs397509407, rs397509408, rs797045990, rs876659443, rs878854603, rs1057518166, rs1060501395, rs1554897280, rs1554898242, rs1555605347, rs587782187, rs1555605750, rs878853937, rs1589596143, rs2037146593, rs2037146907	2212004
Hypogonadotropic hypogonadism	Hypogonadotropic hypogonadism	rs104894702, rs104893836, rs104893837, rs104893842, rs121909628, rs138249161, rs1601946139
Tumoral calcinosis	Tumoral calcinosis	rs104894343, rs104894344, rs745655924, rs137853086, rs375879489, rs761396172, rs137853087, rs137853091, rs137853088, rs137853089, rs137853090, rs766750282, rs760830864, rs786205250, rs267606841, rs1555096583, rs1220533001, rs762936774, rs775341386	25938945
Obesity	Obesity	rs34911341, rs74315349, rs1474810899, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs-1, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs74315393, rs121913556, rs2989924, rs193922650, rs193922685, rs193922687, rs751160202, rs1421085, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829, rs6548238, rs7138803, rs7754840
Pulmonary fibrosis	Pulmonary Fibrosis	rs121918666, rs199422300, rs121917737, rs121917834, rs199422294, rs201159197, rs199422297, rs199422305, rs751381953, rs876661305, rs878853260, rs863223336, rs786205702, rs1555811762, rs1060502990, rs1555903332, rs1554038539, rs1554042899, rs938938578	15286697
Thrombocythemia	Thrombocythemia, Essential	rs2108623965, rs771269271, rs121913614, rs77375493, rs1555760738, rs-1, rs750046020, rs148434485, rs1714397896	15682418
Dermatofibrosarcoma protuberans	Dermatofibrosarcoma Protuberans, Dermatofibrosarcoma protuberans, Dermatofibrosarcoma Protuberans, Myxoid	rs-1
Migraine	Migraine Disorders	rs794727411
Basal ganglia calcification	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, Idiopathic basal ganglia calcification 1	rs1586022262, rs387906652, rs387906653, rs397509381, rs367543286, rs398122396, rs398122397, rs397515631, rs397515632, rs398122398, rs397515633, rs398122399, rs786205901, rs786205902, rs786205903, rs786205904, rs-1, rs398122395, rs1554546830, rs751093906, rs1563452941, rs760451348, rs749427106, rs1563982489, rs1563981743, rs1563981857, rs1563452873, rs1563452322, rs1563453866, rs1563490467, rs1563497714, rs1563498184, rs1563431044, rs1586025869, rs1588003652, rs868530644, rs775762093, rs765483979, rs1601038626, rs1600978441, rs1230941179, rs1383641309, rs781261918, rs751103286, rs1601038704	27227165, 26599395, 26129893, 23913003, 25211641
Hydrocephalus	Hydrocephalus	rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546
Neurofibroma	neurofibroma	rs786202782, rs863224491, rs1555614011, rs1597851255, rs1597862012, rs1597715477, rs1597859854
Fibrosarcoma	Fibrosarcoma	rs-1

Unknown
Disease name	Disease term	dbSNP ID	References
Cirrhosis	Cirrhosis	rs119465999, rs144369314, rs8056684, rs112053857, rs75998507	22004089
Brain neoplasms	Neoplasm of the posterior pituitary, Neoplasm of the anterior pituitary	rs1800720, rs587781720
Mental depression	Depressive disorder	rs587778876, rs587778877
Hypothalamic hypothyroidism	Hypothalamic hypothyroidism	rs784704, rs5662, rs5663
Alveolitis	Alveolitis, Fibrosing		15286697
Amnesia	Amnesia, Transient Global
Anxiety disorder	Anxiety
Basal ganglia diseases	Basal Ganglia Diseases		25938945
Bilateral striopallidodentate calcinosis	Bilateral striopallidodentate calcinosis
Dementia	Dementia
Dermatofibrosarcoma	Dermatofibrosarcoma
Dysarthria	Dysarthria
Dyskinetic syndrome	Dyskinetic syndrome
Erectile dysfunction	Erectile dysfunction
Extrapyramidal disease	Extrapyramidal Disorders		25938945
Facial paralysis	Facial paralysis
Fahr`s syndrome	Fahr`s syndrome (disorder)		23913003, 25211641, 27227165
Giant cell fibroblastoma	Giant Cell Fibroblastoma
Growth hormone deficiency	Secondary growth hormone deficiency
Intracranial meningioma	Intracranial Meningioma
Lenticulostriate disorders	Lenticulostriate Disorders		25938945
Liver carcinoma	Liver carcinoma		20506153
Malformation of cortical development	Malformations of Cortical Development, Group II
Metastatic dermatofibrosarcoma protuberans	Metastatic Dermatofibrosarcoma Protuberans
Mood swings	Mood swings
Multiple meningioma	Familial multiple meningioma
Oculomotor nerve palsy	Oculomotor Nerve Paralysis
Papilledema	Papilledema
Pigmented dermatofibrosarcoma protuberans	Pigmented Dermatofibrosarcoma Protuberans (Bednar Tumor)
Brain stem compression	Posterior fossa compression syndrome
Proptosis	Exophthalmos
Psychosis	Psychotic Disorders
Retinal diseases	Retinal Diseases		11840346
Skin neoplasms	Skin Neoplasms
Speech disorders	Speech Disorders
Spinal meningioma	Spinal Meningioma
Subcutaneous hemorrhage	Subcutaneous hemorrhage
Thrombocytosis	Thrombocytosis, Autosomal Dominant		15682418
Tongue neoplasms	Tongue Neoplasms
Trigeminal neuralgia	Trigeminal Neuralgia