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SHH (sonic hedgehog signaling molecule)

Gene

6469

Sonic hedgehog signaling molecule

SHH

HHG1, HLP3, HPE3, MCOPCB5, SMMCI, ShhNC, TPT, TPTPS

7q36.3

This gene encodes a protein that is instrumental in patterning the early embryo. It has been implicated as the key inductive signal in patterning of the ventral neural tube, the anterior-posterior limb axis, and the ventral somites. Of three human protein

Show/Hide all(49)

SNP ID	Visualize variation	Clinical significance	Consequence
rs28936675	C>T	Pathogenic	Upstream transcript variant, missense variant, genic upstream transcript variant, coding sequence variant
rs104894040	A>C,G	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs104894042	A>T	Pathogenic	Missense variant, intron variant, coding sequence variant
rs104894043	C>T	Pathogenic	Missense variant, intron variant, coding sequence variant
rs104894044	G>A	Pathogenic	Upstream transcript variant, coding sequence variant, genic upstream transcript variant, stop gained
rs104894045	T>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs104894046	C>A,T	Pathogenic	Missense variant, intron variant, coding sequence variant, stop gained
rs104894047	C>T	Likely-benign, benign, pathogenic	Missense variant, intron variant, coding sequence variant
rs104894048	G>C,T	Pathogenic	Missense variant, intron variant, coding sequence variant
rs104894049	T>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs104894050	T>A	Pathogenic	Missense variant, upstream transcript variant, coding sequence variant, genic upstream transcript variant
rs104894051	C>A,G	Pathogenic	Missense variant, intron variant, coding sequence variant, stop gained
rs104894052	A>G	Pathogenic	Missense variant, intron variant, coding sequence variant
rs104894053	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs112055654	C>T	Likely-benign, benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, intron variant, coding sequence variant
rs146990376	G>A,C	Pathogenic	Synonymous variant, non coding transcript variant, stop gained, coding sequence variant
rs191903572	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant, intron variant
rs267607047	G>A,T	Pathogenic	Synonymous variant, non coding transcript variant, missense variant, coding sequence variant
rs397515375	GCGGCGGTGAGCAGCAGGCGC>-	Pathogenic	Inframe deletion, coding sequence variant, intron variant
rs397515376	GCGCGAAGG>-	Pathogenic	Inframe deletion, coding sequence variant, intron variant
rs587778786	CCCGCGGTCCCCGCC>-	Pathogenic	Coding sequence variant, intron variant, inframe deletion
rs587778788	->CAGC	Pathogenic	Coding sequence variant, upstream transcript variant, genic upstream transcript variant, frameshift variant
rs587778789	GACGAGGA>-	Pathogenic	Coding sequence variant, upstream transcript variant, genic upstream transcript variant, frameshift variant
rs587778792	C>G	Pathogenic	Coding sequence variant, upstream transcript variant, genic upstream transcript variant, missense variant
rs587778799	C>G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs587778803	G>A,C	Pathogenic	Coding sequence variant, intron variant, stop gained, missense variant
rs587778805	C>T	Pathogenic	Coding sequence variant, intron variant, missense variant
rs587778806	G>T	Pathogenic	Coding sequence variant, intron variant, missense variant
rs753315599	C>A,T	Likely-pathogenic, uncertain-significance	Intron variant, coding sequence variant, stop gained, missense variant
rs763132615	G>A,T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained, synonymous variant
rs769920627	->GCC	Likely-pathogenic	Coding sequence variant, inframe insertion, intron variant
rs779093031	G>A,T	Pathogenic	Upstream transcript variant, coding sequence variant, synonymous variant, genic upstream transcript variant, stop gained
rs886042458	G>A,C	Likely-pathogenic, pathogenic	Missense variant, intron variant, coding sequence variant
rs1057518056	C>T	Likely-pathogenic	Missense variant, coding sequence variant, intron variant
rs1057518660	G>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1085307689	C>A	Likely-pathogenic	Genic upstream transcript variant, upstream transcript variant, coding sequence variant, missense variant
rs1131691966	G>A,T	Likely-pathogenic	Stop gained, missense variant, coding sequence variant, intron variant
rs1131691989	A>G	Pathogenic	Missense variant, coding sequence variant, intron variant
rs1420292012	G>A,T	Likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs1554493607	G>T	Pathogenic	Coding sequence variant, stop gained, intron variant
rs1554493633	->C	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1554493722	C>T	Likely-pathogenic	Coding sequence variant, stop gained, intron variant
rs1554493810	GAGCCCGAGGACGCCTCGGGCTC>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1554495331	A>-	Likely-pathogenic	Upstream transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant
rs1563198990	C>A	Pathogenic	Coding sequence variant, intron variant, stop gained
rs1584800601	->TAGTG	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1584800607	GA>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1584805934	A>G	Likely-pathogenic	Upstream transcript variant, splice donor variant, genic upstream transcript variant
rs1584806077	TC>-	Pathogenic	Upstream transcript variant, frameshift variant, coding sequence variant, genic upstream transcript variant

Show/Hide all(40)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017061	hsa-miR-335-5p	Microarray	18185580
MIRT683052	hsa-miR-6887-3p	HITS-CLIP	23706177
MIRT683051	hsa-miR-7108-3p	HITS-CLIP	23706177
MIRT683050	hsa-miR-1471	HITS-CLIP	23706177
MIRT683049	hsa-miR-1292-3p	HITS-CLIP	23706177
MIRT683048	hsa-miR-1913	HITS-CLIP	23706177
MIRT683047	hsa-miR-324-3p	HITS-CLIP	23706177
MIRT683046	hsa-miR-4313	HITS-CLIP	23706177
MIRT683045	hsa-miR-6882-3p	HITS-CLIP	23706177
MIRT570527	hsa-miR-548az-5p	PAR-CLIP	20371350
MIRT570526	hsa-miR-548t-5p	PAR-CLIP	20371350
MIRT570525	hsa-miR-595	PAR-CLIP	20371350
MIRT570524	hsa-miR-4781-3p	PAR-CLIP	20371350
MIRT570523	hsa-miR-567	PAR-CLIP	20371350
MIRT570522	hsa-miR-223-5p	PAR-CLIP	20371350
MIRT570521	hsa-miR-6867-5p	PAR-CLIP	20371350
MIRT570520	hsa-miR-297	PAR-CLIP	20371350
MIRT570519	hsa-miR-6818-5p	PAR-CLIP	20371350
MIRT570518	hsa-miR-147a	PAR-CLIP	20371350
MIRT683052	hsa-miR-6887-3p	HITS-CLIP	23706177
MIRT683051	hsa-miR-7108-3p	HITS-CLIP	23706177
MIRT683050	hsa-miR-1471	HITS-CLIP	23706177
MIRT683049	hsa-miR-1292-3p	HITS-CLIP	23706177
MIRT683048	hsa-miR-1913	HITS-CLIP	23706177
MIRT683047	hsa-miR-324-3p	HITS-CLIP	23706177
MIRT683046	hsa-miR-4313	HITS-CLIP	23706177
MIRT683045	hsa-miR-6882-3p	HITS-CLIP	23706177
MIRT570527	hsa-miR-548az-5p	PAR-CLIP	20371350
MIRT570526	hsa-miR-548t-5p	PAR-CLIP	20371350
MIRT570525	hsa-miR-595	PAR-CLIP	20371350
MIRT570524	hsa-miR-4781-3p	PAR-CLIP	20371350
MIRT570523	hsa-miR-567	PAR-CLIP	20371350
MIRT570522	hsa-miR-223-5p	PAR-CLIP	20371350
MIRT570521	hsa-miR-6867-5p	PAR-CLIP	20371350
MIRT570520	hsa-miR-297	PAR-CLIP	20371350
MIRT570519	hsa-miR-6818-5p	PAR-CLIP	20371350
MIRT570518	hsa-miR-147a	PAR-CLIP	20371350
MIRT2102692	hsa-miR-4707-5p	CLIP-seq
MIRT2102693	hsa-miR-4749-3p	CLIP-seq
MIRT2102693	hsa-miR-4749-3p	CLIP-seq

Transcription factors

Show/Hide all(3)

Transcription factor	Regulation	Reference
PAX3	Unknown	20569257
SOX9	Unknown	20569257
STAT3	Activation	22554932

Show/Hide all(171)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	ISS
GO:0001569	Process	Branching involved in blood vessel morphogenesis	ISS
GO:0001570	Process	Vasculogenesis	ISS
GO:0001656	Process	Metanephros development	ISS
GO:0001658	Process	Branching involved in ureteric bud morphogenesis	ISS
GO:0001708	Process	Cell fate specification	IBA	21873635
GO:0001708	Process	Cell fate specification	ISS
GO:0001755	Process	Neural crest cell migration	ISS
GO:0001947	Process	Heart looping	ISS
GO:0002052	Process	Positive regulation of neuroblast proliferation	IEA
GO:0002076	Process	Osteoblast development	IEA
GO:0002320	Process	Lymphoid progenitor cell differentiation	IMP	14764698
GO:0003140	Process	Determination of left/right asymmetry in lateral mesoderm	ISS
GO:0005113	Function	Patched binding	IBA	21873635
GO:0005113	Function	Patched binding	IDA	8906787
GO:0005509	Function	Calcium ion binding	IBA	21873635
GO:0005509	Function	Calcium ion binding	IDA	19561609
GO:0005515	Function	Protein binding	IPI	19561609, 29954986, 30139912
GO:0005539	Function	Glycosaminoglycan binding	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0005615	Component	Extracellular space	IDA	19561609
GO:0005615	Component	Extracellular space	ISS
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	TAS
GO:0006897	Process	Endocytosis	IEA
GO:0007224	Process	Smoothened signaling pathway	IBA	21873635
GO:0007224	Process	Smoothened signaling pathway	IDA	31279575
GO:0007224	Process	Smoothened signaling pathway	IEP	17850284
GO:0007224	Process	Smoothened signaling pathway	ISS
GO:0007228	Process	Positive regulation of hh target transcription factor activity	ISS
GO:0007267	Process	Cell-cell signaling	ISS
GO:0007389	Process	Pattern specification process	ISS
GO:0007398	Process	Ectoderm development	IEA
GO:0007405	Process	Neuroblast proliferation	ISS
GO:0007411	Process	Axon guidance	ISS
GO:0007417	Process	Central nervous system development	ISS
GO:0007418	Process	Ventral midline development	TAS	11001584
GO:0007442	Process	Hindgut morphogenesis	IEA
GO:0007507	Process	Heart development	ISS
GO:0007596	Process	Blood coagulation	IEA
GO:0008209	Process	Androgen metabolic process	ISS
GO:0008233	Function	Peptidase activity	IEA
GO:0008270	Function	Zinc ion binding	IDA	19561609
GO:0008284	Process	Positive regulation of cell population proliferation	IDA	11331587
GO:0008284	Process	Positive regulation of cell population proliferation	ISS
GO:0009880	Process	Embryonic pattern specification	TAS	11001584
GO:0009949	Process	Polarity specification of anterior/posterior axis	ISS
GO:0009953	Process	Dorsal/ventral pattern formation	ISS
GO:0009986	Component	Cell surface	ISS
GO:0010468	Process	Regulation of gene expression	IBA	21873635
GO:0014003	Process	Oligodendrocyte development	IEA
GO:0014706	Process	Striated muscle tissue development	IEA
GO:0014858	Process	Positive regulation of skeletal muscle cell proliferation	IEA
GO:0014902	Process	Myotube differentiation	IEA
GO:0016015	Function	Morphogen activity	NAS	8647801
GO:0016015	Function	Morphogen activity	TAS	24431302
GO:0016539	Process	Intein-mediated protein splicing	IEA
GO:0016540	Process	Protein autoprocessing	IEA
GO:0021513	Process	Spinal cord dorsal/ventral patterning	IEA
GO:0021522	Process	Spinal cord motor neuron differentiation	IEA
GO:0021794	Process	Thalamus development	IEA
GO:0021904	Process	Dorsal/ventral neural tube patterning	IEA
GO:0021930	Process	Cerebellar granule cell precursor proliferation	ISS
GO:0021938	Process	Smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation	IEA
GO:0021978	Process	Telencephalon regionalization	IEA
GO:0030010	Process	Establishment of cell polarity	IEA
GO:0030162	Process	Regulation of proteolysis	ISS
GO:0030177	Process	Positive regulation of Wnt signaling pathway	IEA
GO:0030324	Process	Lung development	ISS
GO:0030326	Process	Embryonic limb morphogenesis	ISS
GO:0030336	Process	Negative regulation of cell migration	ISS
GO:0030539	Process	Male genitalia development	ISS
GO:0030850	Process	Prostate gland development	ISS
GO:0030878	Process	Thyroid gland development	IEA
GO:0030900	Process	Forebrain development	ISS
GO:0030901	Process	Midbrain development	ISS
GO:0030902	Process	Hindbrain development	ISS
GO:0031016	Process	Pancreas development	IEA
GO:0031069	Process	Hair follicle morphogenesis	IEA
GO:0032435	Process	Negative regulation of proteasomal ubiquitin-dependent protein catabolic process	IEA
GO:0033077	Process	T cell differentiation in thymus	ISS
GO:0033089	Process	Positive regulation of T cell differentiation in thymus	ISS
GO:0033092	Process	Positive regulation of immature T cell proliferation in thymus	ISS
GO:0034244	Process	Negative regulation of transcription elongation from RNA polymerase II promoter	IEA
GO:0034504	Process	Protein localization to nucleus	IEA
GO:0035115	Process	Embryonic forelimb morphogenesis	IEA
GO:0035116	Process	Embryonic hindlimb morphogenesis	IEA
GO:0042127	Process	Regulation of cell population proliferation	ISS
GO:0042130	Process	Negative regulation of T cell proliferation	IEA
GO:0042307	Process	Positive regulation of protein import into nucleus	IEA
GO:0042475	Process	Odontogenesis of dentin-containing tooth	IEA
GO:0042481	Process	Regulation of odontogenesis	ISS
GO:0042733	Process	Embryonic digit morphogenesis	ISS
GO:0043010	Process	Camera-type eye development	IEA
GO:0043066	Process	Negative regulation of apoptotic process	ISS
GO:0043237	Function	Laminin-1 binding	ISS
GO:0043369	Process	CD4-positive or CD8-positive, alpha-beta T cell lineage commitment	IDA	17227833
GO:0045059	Process	Positive thymic T cell selection	ISS
GO:0045060	Process	Negative thymic T cell selection	ISS
GO:0045109	Process	Intermediate filament organization	IEA
GO:0045121	Component	Membrane raft	ISS
GO:0045445	Process	Myoblast differentiation	IEA
GO:0045596	Process	Negative regulation of cell differentiation	ISS
GO:0045880	Process	Positive regulation of smoothened signaling pathway	IDA	19561609
GO:0045880	Process	Positive regulation of smoothened signaling pathway	ISS
GO:0045893	Process	Positive regulation of transcription, DNA-templated	IDA	10654605
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0046638	Process	Positive regulation of alpha-beta T cell differentiation	ISS
GO:0046639	Process	Negative regulation of alpha-beta T cell differentiation	IEA
GO:0048468	Process	Cell development	ISS
GO:0048538	Process	Thymus development	ISS
GO:0048557	Process	Embryonic digestive tract morphogenesis	IEA
GO:0048617	Process	Embryonic foregut morphogenesis	IEA
GO:0048643	Process	Positive regulation of skeletal muscle tissue development	IEA
GO:0048645	Process	Animal organ formation	IEA
GO:0048663	Process	Neuron fate commitment	ISS
GO:0048706	Process	Embryonic skeletal system development	IEA
GO:0048709	Process	Oligodendrocyte differentiation	IBA	21873635
GO:0048714	Process	Positive regulation of oligodendrocyte differentiation	IEA
GO:0048745	Process	Smooth muscle tissue development	IEP	17850284
GO:0048754	Process	Branching morphogenesis of an epithelial tube	ISS
GO:0048839	Process	Inner ear development	IEA
GO:0048859	Process	Formation of anatomical boundary	IEA
GO:0048864	Process	Stem cell development	ISS
GO:0051155	Process	Positive regulation of striated muscle cell differentiation	IEA
GO:0051781	Process	Positive regulation of cell division	IDA	11331587
GO:0060020	Process	Bergmann glial cell differentiation	IEA
GO:0060021	Process	Roof of mouth development	IEA
GO:0060070	Process	Canonical Wnt signaling pathway	IEA
GO:0060174	Process	Limb bud formation	IEA
GO:0060428	Process	Lung epithelium development	IEA
GO:0060439	Process	Trachea morphogenesis	IEA
GO:0060445	Process	Branching involved in salivary gland morphogenesis	IEA
GO:0060447	Process	Bud outgrowth involved in lung branching	IEA
GO:0060458	Process	Right lung development	IEA
GO:0060459	Process	Left lung development	IEA
GO:0060463	Process	Lung lobe morphogenesis	IEA
GO:0060484	Process	Lung-associated mesenchyme development	IEA
GO:0060516	Process	Primary prostatic bud elongation	IEA
GO:0060523	Process	Prostate epithelial cord elongation	IEA
GO:0060662	Process	Salivary gland cavitation	IEA
GO:0060664	Process	Epithelial cell proliferation involved in salivary gland morphogenesis	IEA
GO:0060685	Process	Regulation of prostatic bud formation	IEA
GO:0060738	Process	Epithelial-mesenchymal signaling involved in prostate gland development	IDA	12221011
GO:0060769	Process	Positive regulation of epithelial cell proliferation involved in prostate gland development	IEA
GO:0060782	Process	Regulation of mesenchymal cell proliferation involved in prostate gland development	IEA
GO:0060783	Process	Mesenchymal smoothened signaling pathway involved in prostate gland development	IEA
GO:0060840	Process	Artery development	IEA
GO:0060916	Process	Mesenchymal cell proliferation involved in lung development	IEA
GO:0061053	Process	Somite development	ISS
GO:0061189	Process	Positive regulation of sclerotome development	IDA	10654605
GO:0062023	Component	Collagen-containing extracellular matrix	HDA	28344315
GO:0071285	Process	Cellular response to lithium ion	IEA
GO:0071542	Process	Dopaminergic neuron differentiation	TAS	24431302
GO:0072136	Process	Metanephric mesenchymal cell proliferation involved in metanephros development	ISS
GO:0072205	Process	Metanephric collecting duct development	IEP	17850284
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IEA
GO:0090370	Process	Negative regulation of cholesterol efflux	ISS
GO:0097190	Process	Apoptotic signaling pathway	ISS
GO:1900175	Process	Regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry	NAS	17507406
GO:1900180	Process	Regulation of protein localization to nucleus	IDA	11331587
GO:1904339	Process	Negative regulation of dopaminergic neuron differentiation	IEA
GO:1905327	Process	Tracheoesophageal septum formation	IEA
GO:2000062	Process	Negative regulation of ureter smooth muscle cell differentiation	ISS
GO:2000063	Process	Positive regulation of ureter smooth muscle cell differentiation	ISS
GO:2000357	Process	Negative regulation of kidney smooth muscle cell differentiation	ISS
GO:2000358	Process	Positive regulation of kidney smooth muscle cell differentiation	ISS
GO:2000729	Process	Positive regulation of mesenchymal cell proliferation involved in ureter development	ISS
GO:2001054	Process	Negative regulation of mesenchymal cell apoptotic process	IEA

MIM	HGNC	e!Ensembl
600725	10848	ENSG00000164690

Protein

UniProt ID

Q15465

Protein name

Sonic hedgehog protein (SHH) (EC 3.1.-.-) (HHG-1) (Shh unprocessed N-terminal signaling and C-terminal autoprocessing domains) (ShhNC) [Cleaved into: Sonic hedgehog protein N-product (ShhN) (Shh N-terminal processed signaling domains) (ShhNp)]

Protein function

[Sonic hedgehog protein]: The C-terminal part of the sonic hedgehog protein precursor displays an autoproteolysis and a cholesterol transferase activity (By similarity). Both activities result in the cleavage of the full-length protein into two

PDB

3HO5 , 3M1N , 3MXW , 6DMY , 6E1H , 6N7G , 6N7H , 6N7K , 6OEV , 6PJV , 6RMG , 6RVD , 7E2I , 7MHZ , 7RHQ , 7URF

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01085	HH_signal	24 → 184	Hedgehog amino-terminal signalling domain	Domain
PF01079	Hint	187 → 448	Hint module	Family

Sequence

MLLLARCLLLVLVSSLLVCSGLACGPGRGFGKRRHPKKLTPLAYKQFIPNVAEKTLGASG
RYEGKISRNSERFKELTPNYNPDIIFKDEENTGADRLMTQRCKDKLNALAISVMNQWPGV
KLRVTEGWDEDGHHSEESLHYEGRAVDITTSDRDRSKYGMLARLAVEAGFDWVYYESKAH
IHCSVKAENSVAAKSGGCFPGSATVHLEQGGTKLVKDLSPGDRVLAADDQGRLLYSDFLT
FLDRDDGAKKVFYVIETREPRERLLLTAAHLLFVAPHNDSATGEPEASSGSGPPSGGALG
PRALFASRVRPGQRVYVVAERDGDRRLLPAAVHSVTLSEEAAGAYAPLTAQGTILINRVL
ASCYAVIEEHSWAHRAFAPFRLAHALLAALAPARTDRGGDSGGGDRGGGGGRVALTAPGA
ADAPGAGATAGIHWYSQLLYQIGTWLLDSEALHPLGMAVKSS

Sequence length

462

Interactions

View interactions

	KEGG		Reactome
	Hedgehog signaling pathway Axon guidance Pathways in cancer Proteoglycans in cancer Basal cell carcinoma Gastric cancer		Hedgehog ligand biogenesis Hh mutants that don't undergo autocatalytic processing are degraded by ERAD Release of Hh-Np from the secreting cell Ligand-receptor interactions Activation of SMO HHAT G278V abrogates palmitoylation of Hh-Np

Associated diseases

Show/Hide Causal Diseases (21)

Causal
Disease name	Disease term	dbSNP ID	References
Agenesis of corpus callosum	Agenesis of corpus callosum	rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
Asthma	Asthma	rs324981, rs121912630, rs150116809, rs4950928, rs708494, rs1581842283
Microphthalmia with coloboma	Colobomatous microphthalmia, MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 5 (disorder)	rs387906910, rs587776950, rs794726861, rs794726862, rs755000701, rs1243762658, rs919662130, rs753315599, rs2091986259	12567406, 22897141, 12503095
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Diabetes insipidus	Central Diabetes Insipidus	rs781942628, rs104894747, rs104894748, rs104894749, rs104894750, rs28935496, rs2147483647, rs104894751, rs104894752, rs104894753, rs104894754, rs104894755, rs1569545523, rs104894756, rs104894757, rs104894758, rs104894759, rs104894760, rs121964892, rs104894328, rs104894329, rs1565636541, rs104894334, rs104894330, rs104894331, rs104894335, rs104894332, rs104894333, rs104894337, rs1565637179, rs1565637189, rs28931580, rs104894338, rs104894339, rs104894341, rs796052096, rs886040961, rs370879515, rs1057518723, rs1064797077, rs1131690792, rs1557100304, rs772201159, rs149659001, rs770810694, rs1557100594, rs1603282342, rs749468605
Hemangioma	Hemangioma	rs119475040, rs121917766
Holoprosencephaly	Holoprosencephaly, HOLOPROSENCEPHALY 3	rs121917878, rs121917879, rs121917880, rs1572624159, rs137853021, rs397515364, rs397515365, rs2147483647, rs121909067, rs121909070, rs199476093, rs28936675, rs104894044, rs104894045, rs104894040, rs104894042, rs397515375, rs104894046, rs104894048, rs397515376, rs104894050, rs104894051, rs104894053, rs267607047, rs121917707, rs121917708, rs1594290658, rs387906867, rs387906995, rs387906996, rs387906997, rs398122882, rs397515499, rs397515500, rs397515502, rs587778786, rs587778788, rs587778789, rs587778792, rs146990376, rs587778799, rs587778803, rs587778805, rs587778806, rs794729641, rs864622212, rs876661335, rs876661331, rs876661330, rs876661329, rs886042458, rs1057518696, rs1057518689, rs1057518657, rs1057518660, rs763132615, rs1060499564, rs1060499563, rs1060499562, rs1554691658, rs1555332362, rs753473749, rs1554493810, rs1555332361, rs756225250, rs1554495331, rs528376963, rs1555650923, rs1554834892, rs139565972, rs1554834889, rs1490604080, rs1553337688, rs1554493607, rs1420292012, rs779093031, rs1555332212, rs1456001894, rs1558420022, rs1566405714, rs1567417422, rs1569507848, rs1584800601, rs1594291863, rs1584805934, rs1584806077, rs1594292057, rs1584800607, rs2053256914, rs1317614761, rs2057753419	12032320, 23264560, 17525797, 27585885, 15107988, 7550324, 9302262, 12503095, 10441331, 8896572, 19603532, 11479728, 7550324, 15221788, 15107988, 15942953, 10556296, 17001669, 22897141, 15942952, 16282375
Hypothyroidism	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
Isolated somatotropin deficiency	Isolated somatotropin deficiency	rs797044450, rs71640277, rs863223306, rs2144738731, rs863223307, rs2144739370, rs863223309, rs863223310, rs137853223, rs2144739380, rs2144739391
Lobar holoprosencephaly	Lobar Holoprosencephaly	rs121909645	27585885, 17525797, 15107988, 23264560
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
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, 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
Microform holoprosencephaly	Microform holoprosencephaly	rs876661323, rs876661324, rs876661325, rs876661326, rs876661327, rs876661333
Microphthalmos	Microphthalmos, Bilateral microphthalmos	rs794726862, rs1329285216
Parkinson disease	Parkinson Disease, Secondary Vascular, 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	11771942
Polydactyly	Polydactyly, Polydactyly preaxial type 1, POLYDACTYLY, PREAXIAL II (disorder)	rs1583729398, rs121917709, rs1583734240, rs121917714, rs397507422, rs398122899, rs587776959, rs386833752, rs1057518698, rs1060499558, rs755938967, rs1375768446, rs1309855392, rs1565601979, rs748321474, rs368652620, rs1562587032, rs760694987	12032320, 19847792, 12567406, 18178630, 26394607
Schizencephaly	Schizencephaly, Familial schizencephaly, Acquired schizencephaly	rs2133969658, rs1564751655, rs1411887961, rs755549724, rs387906867	12503095
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Semilobar holoprosencephaly	Semilobar Holoprosencephaly	rs876661334, rs876661329, rs876661328	17525797, 23264560, 27585885, 15107988
Syndactyly	Syndactyly, Type IV	rs878854345, rs104893635, rs28931600, rs587777050, rs587777051, rs606231304
Tetralogy of fallot	Tetralogy of Fallot	rs28939668, rs727504412, rs864321649, rs774966208, rs876660981, rs886044220, rs1114167357, rs1569484126, rs1569484164, rs1569484122, rs1569484124, rs1569484042, rs1569484120, rs1569484299, rs1569484301, rs1569484288

Show/Hide Unknown Diseases (34)

Unknown
Disease name	Disease term	dbSNP ID	References
Alobar holoprosencephaly	Alobar Holoprosencephaly		23264560, 15107988, 27585885, 17525797
Ambiguous genitalia	Ambiguous Genitalia	rs782562963
Arrhinencephaly	Arhinencephaly		15107988, 27585885, 23264560, 17525797
Atherosclerotic parkinsonism	Atherosclerotic Parkinsonism		11771942
Camptodactyly of fingers	Clinodactyly of the 5th finger
Cerebral cortical atrophy	Cerebral cortical atrophy
Choanal atresia	Choanal Atresia
Congenital coloboma of iris	Congenital coloboma of iris
Congenital hypoplasia of penis	Congenital hypoplasia of penis
Congenital stenosis of nasal pyriform aperture	Congenital stenosis of nasal pyriform aperture
Cyclocephaly	Cyclocephaly		12567406
Duodenal atresia	Duodenal atresia
Dwarfism	Dwarfism
Fundus coloboma	Fundus coloboma
Fused incisors	SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR		12503095, 11471164, 12567406, 15103725
Hydronephrosis	Hydronephrosis
Hypoplastic tibia and postaxial polydactyly syndrome	Hypoplastic tibiae-postaxial polydactyly syndrome
Liver carcinoma	Liver carcinoma		26189965
Longitudinal deficiency of radius	Longitudinal deficiency of radius		26394607
Midline interhemispheric variant of holoprosencephaly	Midline interhemispheric variant of holoprosencephaly
Panhypopituitarism	Panhypopituitarism
Polydactyly of toes	Polydactyly of toes
Preaxial polydactyly-upperback hypertrichosis syndrome	Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome
Proptosis	Exophthalmos
Radial polydactyly	Radial polydactyly		12032320
Renal agenesis	Congenital absence of kidneys syndrome
Retinal coloboma	Coloboma of the Retina
Septopreoptic holoprosencephaly	Septopreoptic holoprosencephaly
Somatotropin deficiency	Somatotropin deficiency
Strabismus	Strabismus
Syndactyly of fingers	Syndactyly of fingers, 1-5 finger syndactyly
Syndactyly of the toes	Syndactyly of the toes
Triphalangeal thumb-polysyndactyly syndrome	Triphalangeal thumb-polysyndactyly syndrome	rs71838136, rs886062115, rs370780340, rs35765850, rs146572018, rs528727956
Postaxial hand polydactyly	Ulnar polydactyly of fingers

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