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ALPL (alkaline phosphatase, biomineralization associated)

Gene

249

Alkaline phosphatase, biomineralization associated

ALPL

AP-TNAP, APTNAP, HOPS, HPPA, HPPC, HPPI, HPPO, TNALP, TNAP, TNS-ALP, TNSALP

1p36.12

This gene encodes a member of the alkaline phosphatase family of proteins. There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The first three are located

Show/Hide all(95)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121918000	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs121918001	C>A,T	Likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs121918002	A>C	Pathogenic	Missense variant, coding sequence variant
rs121918003	G>A,C	Pathogenic	Missense variant, intron variant, coding sequence variant
rs121918004	A>C	Pathogenic	Missense variant, coding sequence variant
rs121918005	C>G,T	Pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant, upstream transcript variant, genic upstream transcript variant
rs121918006	T>C	Pathogenic	Missense variant, coding sequence variant
rs121918007	G>A,C	Pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs121918008	A>T	Pathogenic	Missense variant, coding sequence variant
rs121918009	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs121918010	T>C	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs121918011	G>A,C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs121918012	G>T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs121918013	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs121918014	A>G	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs121918015	C>T	Pathogenic	Missense variant, coding sequence variant
rs121918016	G>A	Pathogenic	Missense variant, coding sequence variant
rs121918017	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs121918018	G>C,T	Pathogenic-likely-pathogenic, pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs121918019	G>A,C	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs121918020	C>T	Pathogenic	Missense variant, coding sequence variant
rs139811782	G>A	Likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs141448778	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs148405563	C>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs149889416	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs199590449	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs199665722	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs199669988	G>A	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs370122334	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs371243939	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs376221105	C>A,G,T	Pathogenic	Coding sequence variant, missense variant, stop gained
rs387906525	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs749544042	G>A	Pathogenic	Splice donor variant
rs750174638	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs751404811	C>-,CC	Likely-pathogenic	Frameshift variant, coding sequence variant
rs751994699	GG>-	Pathogenic	Frameshift variant, coding sequence variant
rs753338851	CTT>-	Pathogenic, likely-pathogenic	Coding sequence variant, inframe deletion
rs754826836	->T	Likely-pathogenic	Frameshift variant, coding sequence variant
rs755529290	C>A,T	Likely-pathogenic	Synonymous variant, coding sequence variant, stop gained
rs760134827	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs763159520	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs763244290	T>-	Likely-pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs764322898	T>G	Likely-pathogenic	Intron variant, splice donor variant, genic upstream transcript variant
rs764908423	->G	Likely-pathogenic	Frameshift variant, coding sequence variant
rs766076920	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs768160006	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs769948289	G>-,GG	Likely-pathogenic	Coding sequence variant, frameshift variant
rs771540767	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs772638759	ACCCCCTGAGCGTCCT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs773257111	G>A	Pathogenic	Missense variant, coding sequence variant
rs781264043	T>C	Likely-pathogenic	Missense variant, coding sequence variant, intron variant
rs781272386	G>A,C,T	Likely-pathogenic	Missense variant, coding sequence variant
rs786204442	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs786204473	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs786204530	AC>CA	Pathogenic, not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs786204634	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs886044912	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1057516230	AACT>-	Likely-pathogenic, pathogenic	Frameshift variant, intron variant, coding sequence variant, genic upstream transcript variant
rs1057516293	C>T	Likely-pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant, synonymous variant
rs1057516334	C>T	Likely-pathogenic	5 prime UTR variant, coding sequence variant, genic upstream transcript variant, upstream transcript variant, stop gained
rs1057516526	C>-,CC	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516622	A>G	Likely-pathogenic	Splice acceptor variant
rs1057516702	TC>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517173	G>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1057517304	T>A	Likely-pathogenic	Splice donor variant, intron variant
rs1057517321	A>-	Likely-pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant, upstream transcript variant
rs1057517322	->GCAG	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517337	CCTGCTGCTCGCGCTGGCCC>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517391	T>A,G	Pathogenic	Splice donor variant
rs1131691372	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1201942473	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1344601362	CT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1413274209	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1553411779	G>A	Likely-pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant, 5 prime UTR variant, upstream transcript variant
rs1553411890	->G	Likely-pathogenic	Splice acceptor variant, coding sequence variant, intron variant
rs1553411896	GCTGCCCG>-	Likely-pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1553411920	->TCAG	Likely-pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1553412246	C>-	Likely-pathogenic	Stop gained, coding sequence variant
rs1553412310	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1553413512	G>A	Likely-pathogenic	Splice donor variant
rs1553414078	AGGGGAC>T	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1553414111	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs1553414133	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1553414560	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1553414600	CT>-	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs1553414843	GACA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1553415035	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1553415164	CT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1558543066	A>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant, genic upstream transcript variant
rs1558548925	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1558557341	CTC>-	Pathogenic	Inframe deletion, coding sequence variant
rs1558557428	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1558558939	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1558558976	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1570276921	G>A	Likely-pathogenic	Coding sequence variant, missense variant

Show/Hide all(9)

miRTarBase ID	miRNA	Experiments	Reference
MIRT007116	hsa-miR-204-5p	Luciferase reporter assay	23472141
MIRT007116	hsa-miR-204-5p	Luciferase reporter assay	23472141
MIRT007116	hsa-miR-204-5p	Luciferase reporter assay, Western blotting, Immunofluorescence, qRT-PCR, In situ hybridization, Flow cytometry	33138854
MIRT735033	hsa-miR-149-3p	Luciferase reporter assay, Western blotting, Microarray	32898999
MIRT755689	hsa-miR-26a-5p	Western blotting, qRT-PCR, Flow cytometry	35246197
MIRT779124	hsa-miR-4433	CLIP-seq
MIRT779125	hsa-miR-665	CLIP-seq
MIRT1930002	hsa-miR-3127-3p	CLIP-seq
MIRT2170742	hsa-miR-122	CLIP-seq

Transcription factors

Show/Hide all(1)

Transcription factor	Regulation	Reference
SP3	Activation	11073119

Show/Hide all(23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001501	Process	Skeletal system development	TAS	9781036
GO:0001649	Process	Osteoblast differentiation	HDA	16210410
GO:0001958	Process	Endochondral ossification	IEA
GO:0003006	Process	Developmental process involved in reproduction	IEA
GO:0004035	Function	Alkaline phosphatase activity	IBA	21873635
GO:0005515	Function	Protein binding	IPI
GO:0005576	Component	Extracellular region	TAS
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	TAS
GO:0016020	Component	Membrane	HDA	16210410
GO:0016311	Process	Dephosphorylation	IBA	21873635
GO:0016462	Function	Pyrophosphatase activity	IDA	19874193
GO:0031012	Component	Extracellular matrix	IEA
GO:0031225	Component	Anchored component of membrane	IEA
GO:0032496	Process	Response to lipopolysaccharide	IEA
GO:0033280	Process	Response to vitamin D	IEP	17023519
GO:0046677	Process	Response to antibiotic	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051384	Process	Response to glucocorticoid	IEA
GO:0065010	Component	Extracellular membrane-bounded organelle	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0071407	Process	Cellular response to organic cyclic compound	IEA
GO:0071529	Process	Cementum mineralization	IEA

MIM	HGNC	e!Ensembl
171760	438	ENSG00000162551

Protein

UniProt ID

P05186

Protein name

Alkaline phosphatase, tissue-nonspecific isozyme (AP-TNAP) (TNS-ALP) (TNSALP) (EC 3.1.3.1) (Alkaline phosphatase liver/bone/kidney isozyme) (Phosphoamidase) (Phosphocreatine phosphatase) (EC 3.9.1.1)

Protein function

Alkaline phosphatase that metabolizes various phosphate compounds and plays a key role in skeletal mineralization and adaptive thermogenesis (PubMed:12162492, PubMed:23688511, PubMed:25982064). Has broad substrate specificity and can hydrolyze a

PDB

7YIV , 7YIW , 7YIX

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00245	Alk_phosphatase	51 → 490	Alkaline phosphatase	Domain

Sequence

MISPFLVLAIGTCLTNSLVPEKEKDPKYWRDQAQETLKYALELQKLNTNVAKNVIMFLGD
GMGVSTVTAARILKGQLHHNPGEETRLEMDKFPFVALSKTYNTNAQVPDSAGTATAYLCG
VKANEGTVGVSAATERSRCNTTQGNEVTSILRWAKDAGKSVGIVTTTRVNHATPSAAYAH
SADRDWYSDNEMPPEALSQGCKDIAYQLMHNIRDIDVIMGGGRKYMYPKNKTDVEYESDE
KARGTRLDGLDLVDTWKSFKPRYKHSHFIWNRTELLTLDPHNVDYLLGLFEPGDMQYELN
RNNVTDPSLSEMVVVAIQILRKNPKGFFLLVEGGRIDHGHHEGKAKQALHEAVEMDRAIG
QAGSLTSSEDTLTVVTADHSHVFTFGGYTPRGNSIFGLAPMLSDTDKKPFTAILYGNGPG
YKVVGGERENVSMVDYAHNNYQAQSAVPLRHETHGGEDVAVFSKGPMAHLLHGVHEQNYV
PHVMAYAACIGANLGHCAPASSAGSLAAGPLLLALALYPLSVLF

Sequence length

524

Interactions

View interactions

	KEGG		Reactome
	Thiamine metabolism Folate biosynthesis Metabolic pathways Biosynthesis of cofactors		Post-translational modification: synthesis of GPI-anchored proteins

Associated diseases

Show/Hide Causal Diseases (11)

Causal
Disease name	Disease term	dbSNP ID	References
Anemia	Anemia	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505
Chondrocalcinosis	Calcium pyrophosphate deposition disease	rs121908405, rs28939080, rs121908407, rs2126640512, rs121908408, rs121908409, rs121908410
Craniosynostosis	Craniosynostosis	rs104893895, rs587777006, rs587777007, rs587777008, rs587777010, rs281865153, rs281865154, rs864321680, rs864321681, rs1057517670, rs1085307122, rs1064794325, rs1884302, rs1555750816, rs1599823350
Hypercalcemia	Hypercalcemia	rs876657376, rs387907322, rs777676129, rs387907323, rs114368325, rs6068812, rs387907324, rs777947329, rs201304511, rs769409705, rs200095793, rs876661338, rs1554095500, rs139763321, rs774432244, rs781367354
Hyperparathyroidism	Hyperparathyroidism, Secondary	rs28942098, rs121434262, rs80356649, rs121434264, rs587776558, rs587776559, rs121909259, rs104893689, rs28936684, rs104893690, rs869320729, rs104893700, rs104893705, rs104893707, rs104893709, rs863223311, rs80356650, rs193922432, rs886041637, rs201633414, rs1057519419, rs766719790, rs1281361203, rs759393722, rs1342435095, rs1200458339, rs755916513, rs1586190048, rs1558280170	22373954
Hypophosphatasia	Adult hypophosphatasia, Adult hypophosphatasia (disorder), Childhood hypophosphatasia (disorder), Childhood-onset hypophosphatasia, Hypophosphatasia, Hypophosphatasia, Perinatal Lethal, Infantile hypophosphatasia	rs121918000, rs121918001, rs121918002, rs121918003, rs121918005, rs121918006, rs121918017, rs121918007, rs121918008, rs121918009, rs121918010, rs387906525, rs121918011, rs121918013, rs749544042, rs121918014, rs121918016, rs121918018, rs121918019, rs121918020, rs781264043, rs786204530, rs199590449, rs766076920, rs786204442, rs786204634, rs786204473, rs755529290, rs1057516230, rs764322898, rs1057516334, rs1057517321, rs763244290, rs1057516293, rs1057517304, rs750174638, rs769948289, rs1057516526, rs768160006, rs1057516702, rs1057517391, rs1057516622, rs1057517322, rs771540767, rs149889416, rs1057517173, rs1057517337, rs199665722, rs1057521085, rs766656419, rs1553415164, rs1320839573, rs751994699, rs781272386, rs751404811, rs1553411896, rs1558543066, rs763159520, rs1558557341, rs1553411779, rs1553411890, rs1553411920, rs916300043, rs1553413512, rs1553414560, rs760134827, rs1553415041, rs1384701659, rs1553412310, rs1553414600, rs1553414611, rs1553414843, rs1553415035, rs1054159992, rs772638759, rs764908423, rs1344601362, rs1413274209, rs1553413155, rs769020799, rs1553414133, rs371243939, rs1442918125, rs768976020, rs1558548925, rs1558557428, rs754826836, rs1558558976, rs753338851, rs1201942473, rs773257111, rs1644755212, rs1292415045	11760847, 12815606, 3174660, 10834525, 9781036, 30979546, 11479741, 11438998, 11999978, 8954059, 11834095, 19500388, 9747027, 8406453, 10332035, 11745997, 17213282, 9452105, 17916236, 10690885, 22266140, 1409720, 18455459, 23039266, 25982064, 11855933, 10679946, 10737975, 23688511, 7833929, 10094560, 15135428, 15694177, 12920074, 30979546, 10737975, 20739387, 17213282, 1409720, 17719863, 24569605, 17916236, 19500388, 11760847, 10839996, 18769927, 25731960, 12357339, 10094560, 18821074, 10332035, 10737975, 27179278, 15694177, 12162492, 19500388, 28401263, 1409720, 18925618, 24569605, 22913777, 9452105, 20739387, 24276437, 25023282, 17719863, 15135428, 27466191, 11760847, 30293248, 8954059, 11855933, 15137467, 18455459, 11438998, 26783040, 10737975, 17916236, 8954059, 19232125, 8406453, 3174660, 17409132, 19500388, 26783040, 28401263, 28127875, 15840803, 15694177, 18559907, 17922851, 23926372, 25736332, 18523927, 28436937, 28506345, 10839996, 20383509, 17719863, 26459154, 11855933, 18925618, 24100244, 12815606, 18455459, 17916236, 10737975, 9618260, 15137467, 11999978, 1409720, 25731960, 11745997, 20924064, 12162492, 15660230, 21713987, 23454488, 10834525, 23509830, 15135428, 22397652, 19335222, 24569605, 27179278, 7833929, 10332035, 15794757, 28939177, 17253930, 11438998, 20049532, 9562633, 18386808, 16769381, 23688511, 24145968, 11810413, 11479741, 18769927, 16583935, 26432670, 22014174, 11760847, 21956185, 10679946, 28663156, 9452105, 24276437, 21168482, 17213282, 29236161, 23580367, 30979546, 9781036, 27312557, 10094560, 15300736, 12638946
Myopathy	Myopathy	rs137854521, rs386834236, rs121908557, rs121909092, rs111033570, rs104894299, rs104894294, rs121909273, rs121909274, rs121909275, rs199474699, rs199476140, rs118192165, rs118192169, rs118192166, rs193922856, rs281865489, rs397514675, rs397514676, rs397514677, rs367543058, rs118192117, rs193922837, rs118192129, rs118192143, rs118192153, rs118192133, rs118192156, rs118192149, rs118192148, rs118192183, rs118192147, rs118192123, rs118192127, rs118192142, rs118192144, rs118192178, rs118192151, rs118192150, rs118192184, rs118192154, rs118192134, rs118192155, rs193922893, rs118192132, rs118192146, rs193922867, rs193922884, rs587777528, rs527236030, rs587777672, rs587777673, rs587777674, rs587777675, rs587783343, rs2754158, rs786204796, rs748277951, rs797046047, rs797046064, rs797046060, rs797045479, rs797045931, rs797045932, rs797045934, rs797045935, rs797045477, rs797045478, rs1057518851, rs1057518855, rs1057518773, rs1057518866, rs1555322610, rs1555806119, rs761483896, rs144071404, rs1198364572, rs1568614042, rs978984063, rs1568604308, rs1332371891, rs1601842249, rs777176261, rs1249621033, rs1278804520, rs1568613962, rs1568510406, rs1597512576, rs193922887, rs371455345, rs1603452200, rs1599634685, rs1575065895, rs1575201712, rs139715157, rs1974129338
Odontohypophosphatasia	ODONTOHYPOPHOSPHATASIA (disorder), Odontohypophosphatasia	rs121918007, rs121918011, rs121918013, rs121918015, rs121918018, rs763159520	10737975, 17916236
Seizure	Complex partial seizures, Generalized seizures, Visual seizure, Tonic - clonic seizures, Single Seizure	rs587784365, rs28939683, rs74315390, rs28939684, rs74315391, rs267607198, rs74315392, rs118192244, rs118192250, rs121917749, rs121917750, rs121917751, rs121917752, rs267606670, rs267607061, rs121912707, rs118192249, rs118192251, rs118192217, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192241, rs118192242, rs118192185, rs118192188, rs118192245, rs118192246, rs118192186, rs118192194, rs118192197, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192211, rs118192216, rs118192239, rs387906684, rs387906686, rs387906687, rs1596893185, rs387907126, rs387907281, rs397515405, rs587778771, rs730882067, rs730882073, rs397514579, rs397514582, rs587776976, rs398122394, rs121918784, rs121918751, rs121918735, rs398123588, rs587780450, rs61749751, rs587777620, rs727503974, rs730882124, rs794726710, rs794726697, rs794726799, rs794727444, rs794727740, rs796053166, rs794726825, rs796052676, rs796053219, rs796053220, rs796053228, rs796052653, rs759584387, rs796052650, rs796052641, rs796052626, rs796052623, rs796052663, rs796052615, rs796052802, rs797044999, rs797045047, rs797045942, rs797045941, rs118192212, rs797044938, rs777257591, rs864321712, rs879255652, rs886039268, rs886039517, rs886039529, rs199497486, rs886039496, rs886039903, rs886041300, rs769827124, rs886041339, rs886041591, rs587783092, rs1555850151, rs1057516123, rs1057516121, rs1057516115, rs1057516111, rs1057516106, rs1057516105, rs756921902, rs1057516089, rs1057516087, rs1057516080, rs1057516076, rs1060499544, rs1555850512, rs1057517919, rs118192231, rs1057520413, rs1060503101, rs1064796294, rs1064794981, rs1064794632, rs1064797245, rs1131691830, rs1131692231, rs1131691936, rs1554626549, rs1553579225, rs1553531385, rs121918736, rs1554898088, rs1553579282, rs763353895, rs1553463119, rs1554093891, rs77838305, rs1555408401, rs1554627439, rs1554097873, rs1555850403, rs1064794719, rs1315483224, rs1567134495, rs770187706, rs1057518555, rs1576983339, rs1574192005, rs1459374430, rs1586800133, rs1574641522, rs1572096837, rs1572630269, rs1574554892, rs1574556643, rs1574571769, rs1574641605, rs1574697769, rs1574716524, rs1574746733, rs1574746935, rs1574752700, rs1574754680, rs863225030, rs1601545088, rs1600714727, rs1371059392, rs1600767259, rs1339542565, rs1600785769, rs2065899210, rs1600732174, rs1162306056, rs879255709, rs1900111672, rs2066910297, rs1554122080, rs796052941, rs1600789325, rs2082695884, rs1737677036, rs1737495759, rs868389022, rs1737685202, rs1737672350, rs762737130	27466191, 7550313
Skeletal dysplasia	Skeletal dysplasia	rs121912632, rs121912633, rs121912634, rs121912636, rs121912637, rs267607147, rs387906324, rs267607150, rs397514473, rs398123438, rs515726153, rs515726154, rs515726162, rs515726163, rs515726172, rs757011098
Tumoral calcinosis	Tumoral calcinosis	rs104894343, rs104894344, rs745655924, rs137853086, rs375879489, rs761396172, rs137853087, rs137853091, rs137853088, rs137853089, rs137853090, rs766750282, rs760830864, rs786205250, rs267606841, rs1555096583, rs1220533001, rs762936774, rs775341386	21193197

Show/Hide Unknown Diseases (18)

Unknown
Disease name	Disease term	dbSNP ID	References
Anorexia	Anorexia
Arthropathy	Arthropathy
Benign hypophosphatasia	Prenatal benign hypophosphatasia
Clonic seizures	Clonic Seizures		27466191, 7550313
Dolichocephaly	Long narrow head
Dwarfism	Dwarfism
Frontal bossing	Frontal bossing
Hypotonic seizures	Epileptic drop attack		7550313, 27466191
Jacksonian seizure	Jacksonian Seizure		27466191, 7550313
Kidney stone	Kidney Calculi		26272126
Lethal hypophosphatasia	Perinatal lethal hypophosphatasia
Metabolic bone disorder	Metabolic Bone Disorder		26773408
Micromelia	Micromelia
Nephrocalcinosis	Nephrocalcinosis
Osteopenia	Osteopenia		26773408
Proptosis	Exophthalmos
Rachitic rosary	Rachitic rosary
Rickets	Rickets, Adult Rickets

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