ALPL (alkaline phosphatase, biomineralization associated)

Gene

• Entrez ID: 249
• Gene name: Alkaline phosphatase, biomineralization associated
• Gene symbol: ALPL
• Synonyms (NCBI Gene): AP-TNAP, APTNAP, HOPS, HPPA, HPPC, HPPI, HPPO, TNALP, TNAP, TNS-ALP, TNSALP
• Chromosome: 1
• Chromosome location: 1p36.12
• Summary: 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

SNPs

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

miRNA

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

Transcription factor	Regulation	Reference
SP3	Activation	11073119

Gene ontology (GO)

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
GO:0004035	Function	Alkaline phosphatase activity	IDA	12162492, 33821301
GO:0004035	Function	Alkaline phosphatase activity	IEA
GO:0004427	Function	Inorganic diphosphate phosphatase activity	IEA
GO:0005509	Function	Calcium ion binding	IDA	11395499
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IEA
GO:0005739	Component	Mitochondrion	IEA
GO:0005758	Component	Mitochondrial intermembrane space	IEA
GO:0005758	Component	Mitochondrial intermembrane space	IEA
GO:0005758	Component	Mitochondrial intermembrane space	ISS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	2220817, 33821301
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0016020	Component	Membrane	HDA	16210410
GO:0016020	Component	Membrane	IEA
GO:0016462	Function	Pyrophosphatase activity	IDA	12162492, 19874193
GO:0016462	Function	Pyrophosphatase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016791	Function	Phosphatase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0019725	Process	Cellular homeostasis	IEA
GO:0030282	Process	Bone mineralization	IBA
GO:0030282	Process	Bone mineralization	IEA
GO:0030282	Process	Bone mineralization	ISS
GO:0031012	Component	Extracellular matrix	IEA
GO:0031214	Process	Biomineral tissue development	IEA
GO:0031966	Component	Mitochondrial membrane	IEA
GO:0031966	Component	Mitochondrial membrane	IEA
GO:0031966	Component	Mitochondrial membrane	ISS
GO:0032496	Process	Response to lipopolysaccharide	IEA
GO:0032868	Process	Response to insulin	IEA
GO:0033280	Process	Response to vitamin D	IEP	17023519
GO:0033883	Function	Pyridoxal phosphatase activity	IDA	2220817, 12162492
GO:0033883	Function	Pyridoxal phosphatase activity	IEA
GO:0034516	Process	Response to vitamin B6	IEA
GO:0036005	Process	Response to macrophage colony-stimulating factor	IEA
GO:0042822	Process	Pyridoxal phosphate metabolic process	IEA
GO:0043262	Function	ADP phosphatase activity	IEA
GO:0046677	Process	Response to antibiotic	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0050187	Function	Phosphoamidase activity	IEA
GO:0050187	Function	Phosphoamidase activity	ISS
GO:0051384	Process	Response to glucocorticoid	IEA
GO:0052732	Function	Phosphoethanolamine phosphatase activity	IDA	2220817
GO:0052732	Function	Phosphoethanolamine phosphatase activity	IEA
GO:0055062	Process	Phosphate ion homeostasis	IEA
GO:0055074	Process	Calcium ion homeostasis	IDA	28592560
GO:0055074	Process	Calcium ion homeostasis	IEA
GO:0065010	Component	Extracellular membrane-bounded organelle	IEA
GO:0065010	Component	Extracellular membrane-bounded organelle	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0071529	Process	Cementum mineralization	IEA
GO:0098552	Component	Side of membrane	IEA
GO:0120162	Process	Positive regulation of cold-induced thermogenesis	IEA
GO:0120162	Process	Positive regulation of cold-induced thermogenesis	ISS
GO:0140651	Process	Futile creatine cycle	IEA
GO:0140928	Process	Inhibition of non-skeletal tissue mineralization	IEA
GO:1904383	Process	Response to sodium phosphate	IEA

Other IDs

• MIM: 171760
• HGNC: 438
• e!Ensembl: 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

Pathways

KEGG:

Thiamine metabolism
Folate biosynthesis
Metabolic pathways
Biosynthesis of cofactors

Reactome:

Post-translational modification: synthesis of GPI-anchored proteins

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Adult hypophosphatasia	Likely pathogenic; Pathogenic	rs768053120, rs772432010, rs2148161378, rs1644478533, rs121918003, rs1304394441, rs746273959, rs760029254, rs1215600806, rs1644592603, rs1644687066, rs2148184880, rs2148192444, rs746390776, rs776117933, rs2148195004, rs765458125, rs2148152364, rs2148152544, rs2148135255, rs1558549798, rs772682471, rs1644722925, rs761836226, rs2148171286, rs781272386, rs779832611, rs2148192403, rs1196976671, rs2148192552, rs756418235, rs552831415, rs770548228, rs966212736, rs757771793, rs2148184404, rs763457259, rs1644527306, rs1289406215, rs2545324318, rs2545304123, rs2545317559, rs2545342154, rs2545303976, rs2545334663, rs2545299251, rs2545299657, rs2545317362, rs2545303525, rs781264043, rs786204530, rs199590449, rs766076920, rs786204442, rs786204634, rs755529290, rs143358506, rs778232217, rs2545324402, rs1644741201, rs2545324707, rs2545317132, rs1470389268, rs2545334486, rs1644740557, rs533959092, rs201250289, rs140167865, rs121918001, rs2545351691, rs1159854007, rs1333485956, rs2545347584, rs749544042, rs1335758022, rs2545304031, rs889640594, rs1394896229, rs2545298389, rs121918000, rs121918002, rs121918005, rs121918007, rs121918008, rs121918009, rs121918010, rs387906525, rs121918011, rs121918013, rs121918014, rs121918016, rs121918018, rs121918019, rs121918020, rs2545290283, rs2545351407, rs2545304138, rs2545347457, rs2545317757, rs2545303484, rs1057516334, rs763244290, rs750174638, rs769948289, rs1057516702, rs1057517391, rs1057517322, rs771540767, rs149889416, rs1057517173, rs199665722, rs1057521085, rs766656419, rs1553414078, rs1320839573, rs751994699, rs1490668038, rs751404811, rs1558543066, rs763159520, rs1558557341, rs916300043, rs1553413512, rs1553414560, rs1553412268, rs1188506084, rs1553415041, rs1384701659, rs1553414563, rs1553414600, rs1553414611, rs1054159992, rs1219494274, rs764908423, rs1344601362, rs1413274209, rs1553413155, rs747488546, rs769020799, rs1553414133, rs371243939, rs1442918125, rs1229517379, rs768976020, rs1558548925, rs1558557428, rs754826836, rs1558558976, rs753338851, rs1201942473, rs773257111, rs1360625972, rs1644755212, rs1292415045, rs759017288, rs1644529451, rs763073466, rs1237252052, rs567349821, rs1644722881, rs747762186, rs1644366950, rs765011829, rs138690664, rs1209147330, rs770093969, rs1408325840, rs1644739549, rs1223142821, rs1382219911, rs1644755133	RCV003469560 RCV003469587 RCV003469635 RCV002493933 RCV003388008 RCV003469672 RCV003469765 RCV003473994 RCV004796630 RCV003473995 RCV003469729 RCV003463021 RCV004570954 RCV003470871 RCV003470872 RCV002496057 RCV005014660 RCV004762189 RCV002489891 RCV005016734 RCV002507646 RCV002492119 RCV005017000 RCV003464207 RCV002497930 RCV003471180 RCV003475237 RCV005016955 RCV005016956 RCV003471247 RCV002497923 RCV002492124 RCV003471162 RCV005017072 RCV004571581 RCV003471236 RCV004571659 RCV005016892 RCV003470959 RCV003485756 RCV002306522 RCV003471325 RCV002310038 RCV002308067 RCV002308330 RCV002309029 RCV002309125 RCV002306882 RCV002310451 RCV002310579 RCV003474904 RCV000763298 RCV001196302 RCV003468842 RCV002498840 RCV003468843 RCV003468845 RCV003475519 RCV003465995 RCV003465790 RCV005860317 RCV004571261 RCV003464631 RCV004572920 RCV003333869 RCV003466079 RCV003459864 RCV003461845 RCV003470102 RCV003476483 RCV003476507 RCV003461857 RCV003461858 RCV003470120 RCV003470123 RCV003470127 RCV003470134 RCV003470148 RCV003470190 RCV003470203 RCV002496361 RCV003466857 RCV000014652 RCV003460473 RCV003473099 RCV000014660 RCV000014662 RCV000763301 RCV000380876 RCV003460475 RCV000770988 RCV000014669 RCV003466858 RCV001253058 RCV004786260 RCV003466859 RCV000763299 RCV003473100 RCV005014802 RCV003991958 RCV004545937 RCV004576841 RCV004576845 RCV004574850 RCV004574878 RCV002502420 RCV002502429 RCV003470341 RCV004567875 RCV003470331 RCV005010297 RCV003463806 RCV004796165 RCV003470350 RCV005010294 RCV002480299 RCV004567908 RCV002464210 RCV003464104 RCV003470650 RCV003465318 RCV003459459 RCV005010577 RCV003459476 RCV003465354 RCV003465357 RCV003465424 RCV003465465 RCV004568522 RCV004568494 RCV004568525 RCV003465505 RCV004017715 RCV003459565 RCV003465511 RCV002499192 RCV003465518 RCV005019133 RCV003472101 RCV002499170 RCV002499160 RCV000763304 RCV005019140 RCV003225733 RCV004568571 RCV003465462 RCV000763303 RCV004568492 RCV003465521 RCV003465651 RCV002493325 RCV005021150 RCV001253674 RCV001198564 RCV003467308 RCV003467448 RCV003229004 RCV001029819 RCV005021343 RCV003467753 RCV002479289 RCV001810492 RCV003469310 RCV001196909 RCV001198044 RCV001196910 RCV001195741 RCV004570471 RCV003462706 RCV005021503 RCV001253680 RCV006270482 RCV003469463 RCV003469476 RCV003462830 RCV001253054 RCV001253015 RCV001253034 RCV001253274 RCV005014317 RCV001280814 RCV003469505 RCV005012740 RCV005014362	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Alpha thalassemia-X-linked intellectual disability syndrome	Likely pathogenic	rs1644592603	RCV004540724	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ALPL-related autosomal recessive hypophosphatasia	Likely pathogenic; Pathogenic	rs121918011, rs753338851	RCV006249557 RCV006249693	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ALPL-related disorder	Likely pathogenic; Pathogenic	rs1644687066, rs2148192444, rs2148152544, rs756418235, rs781264043, rs143358506, rs769955594, rs1382219911, rs121918001, rs121918002, rs121918007, rs121918008, rs121918009, rs121918010, rs121918013, rs749544042, rs121918014, rs121918018, rs121918019, rs121918020, rs1553414079, rs764322898, rs199665722, rs766656419, rs1553414563, rs1219494274, rs1553413155, rs371243939, rs1558558976, rs1201942473, rs1057517173, rs765011829, rs1209147330, rs770093969, rs1408325840	RCV004740679 RCV004740678 RCV004552045 RCV004553602 RCV004552944 RCV004741421 RCV004725335 RCV004552538 RCV004739304 RCV004549362 RCV004739305 RCV004549364 RCV004549365 RCV004549366 RCV004549367 RCV004549368 RCV004739306 RCV003335039 RCV004549369 RCV004549370 RCV004738853 RCV004549832 RCV005869420 RCV004740265 RCV004547844 RCV004547840 RCV004740401 RCV004740395 RCV004549858 RCV004553548 RCV004553586 RCV004740628 RCV004727050 RCV004740636 RCV004548107	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Childhood hypophosphatasia	Likely pathogenic; Pathogenic	rs768053120, rs1644478533, rs121918003, rs1215600806, rs1644592603, rs1644687066, rs776117933, rs2148195004, rs765458125, rs759758484, rs2148152544, rs2148135255, rs1558549798, rs772682471, rs1644722925, rs761836226, rs2148171286, rs781272386, rs2148192403, rs1196976671, rs756418235, rs552831415, rs770548228, rs966212736, rs757771793, rs763457259, rs2545324318, rs2545304123, rs2545317559, rs2545342154, rs2545303976, rs2545334663, rs2545299251, rs2545299657, rs2545317362, rs2545303525, rs781264043, rs786204530, rs199590449, rs786204442, rs786204634, rs2545299161, rs1333485956, rs2545347584, rs121918000, rs121918002, rs121918005, rs121918007, rs121918008, rs121918009, rs121918010, rs121918011, rs121918012, rs121918013, rs749544042, rs121918014, rs121918018, rs121918019, rs121918020, rs1057516334, rs763244290, rs750174638, rs1057517391, rs771540767, rs149889416, rs1057517173, rs199665722, rs766656419, rs1490668038, rs751404811, rs1553412268, rs1188506084, rs1553415041, rs1384701659, rs1553414563, rs1553414600, rs1054159992, rs1219494274, rs764908423, rs1344601362, rs1413274209, rs1553413155, rs371243939, rs1442918125, rs1229517379, rs768976020, rs1558548925, rs1558557428, rs754826836, rs753338851, rs1201942473, rs1360625972, rs1644755212, rs1292415045, rs759017288, rs763073466, rs567349821, rs1644722881, rs747762186, rs765011829, rs138690664, rs770093969, rs1408325840, rs1223142821, rs1382219911, rs1644755133	RCV001332475 RCV002493933 RCV006446126 RCV004796630 RCV005014548 RCV005014538 RCV005014602 RCV002496057 RCV005014660 RCV001789735 RCV002489891 RCV005016734 RCV002507646 RCV002492119 RCV005017000 RCV005016747 RCV002497930 RCV005008303 RCV005016955 RCV005016956 RCV002497923 RCV002492124 RCV005016944 RCV005017072 RCV005016799 RCV005008367 RCV005016892 RCV002306522 RCV002309806 RCV002310038 RCV002308067 RCV002308330 RCV002309029 RCV002309125 RCV002306882 RCV002310451 RCV002310579 RCV005008090 RCV000763298 RCV002505222 RCV002498840 RCV005008091 RCV003142389 RCV005021973 RCV004801351 RCV002496361 RCV000014651 RCV001333468 RCV000014659 RCV000763302 RCV000763301 RCV002504786 RCV000014666 RCV000014667 RCV000014668 RCV005016264 RCV004719646 RCV000014675 RCV000014678 RCV000169779 RCV005014802 RCV002502420 RCV002502429 RCV005010293 RCV005010297 RCV004796165 RCV001580493 RCV005010294 RCV002480299 RCV006257296 RCV005010562 RCV005010577 RCV005019029 RCV005010659 RCV005010665 RCV005019121 RCV005010646 RCV005019143 RCV002499192 RCV005019133 RCV005010656 RCV002499170 RCV002499160 RCV000763304 RCV005019140 RCV000763303 RCV001532998 RCV001789781 RCV005021121 RCV002493325 RCV005021150 RCV001536120 RCV001281691 RCV005021229 RCV005021310 RCV005021343 RCV005021369 RCV002479289 RCV001810492 RCV005021487 RCV005021490 RCV002497720 RCV005021503 RCV002290655 RCV005014299 RCV002484387 RCV005012697 RCV005014309 RCV005014317 RCV005012740 RCV005014362	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Decreased circulating alkaline phosphatase activity	Likely pathogenic; Pathogenic	rs766656419, rs1553414078, rs1553415164, rs1553414600, rs1558549099	RCV000490707 RCV000515669 RCV000515710 RCV000678460 RCV000678459	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypophosphataemia or rickets	Pathogenic; Likely pathogenic	rs1644527306, rs2545303612, rs121918014, rs121918019, rs1413274209, rs765011829	RCV006437095 RCV006442813 RCV006439573 RCV006277646 RCV006277988 RCV006443789	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypophosphatasia	Likely pathogenic; Pathogenic	rs1644740176, rs768053120, rs772432010, rs769020799, rs2148161378, rs2148152217, rs1644478533, rs121918003, rs1304394441, rs746273959, rs1312528958, rs760029254, rs1215600806, rs2148161624, rs1644592603, rs1644687066, rs2148192444, rs746390776, rs776117933, rs2148195004, rs765458125, rs199590449, rs759758484, rs2148150789, rs1476072388, rs2148161800, rs2148152364, rs2148152544, rs2148194946, rs121918013, rs1558549798, rs916300043, rs772682471, rs1644722925, rs1644753808, rs1644509908, rs781272386, rs779832611, rs2148192403, rs1196976671, rs2148192290, rs2148192552, rs756418235, rs1644529717, rs2148189619, rs552831415, rs770548228, rs2148194520, rs1280398041, rs966212736, rs757771793, rs2148184404, rs763457259, rs1289406215, rs2148184355, rs2148171627, rs2148194744, rs1400042777, rs781264043, rs786204530, rs766076920, rs786204442, rs786204634, rs786204473, rs755529290, rs143358506, rs778232217, rs566317085, rs1644684403, rs751977466, rs1187036876, rs2545324402, rs1644741201, rs769955594, rs2545324707, rs2545291966, rs2545342009, rs1470389268, rs1408044973, rs2545347491, rs752356218, rs2545350581, rs2545292224, rs2545303681, rs2545324149, rs2148192467, rs1553414611, rs2545342765, rs2545351182, rs2545303533, rs1644740557, rs533959092, rs140167865, rs121918001, rs1159854007, rs2545347584, rs749544042, rs1394896229, rs2545298389, rs2545351622, rs2545351984, rs760649979, rs2545317081, rs2545292172, rs751625937, rs781213038, rs771542770, rs121918000, rs121918002, rs121918005, rs121918007, rs121918008, rs121918009, rs121918010, rs387906525, rs121918011, rs121918012, rs121918014, rs121918015, rs121918016, rs121918018, rs121918019, rs121918020, rs1376937780, rs1644685487, rs2545341993, rs751292739, rs2545347197, rs1644756699, rs2545350546, rs2545335005, rs2545298833, rs2545350189, rs2545298581, rs1057516230, rs1057516334, rs763244290, rs1057516293, rs750174638, rs769948289, rs768160006, rs1057516702, rs1057517391, rs1057517322, rs771540767, rs149889416, rs199665722, rs1057521085, rs766656419, rs1553414078, rs1320839573, rs1490668038, rs751404811, rs1553411896, rs1558543066, rs763159520, rs1558557341, rs1176474582, rs1553413512, rs1553414560, rs1553412268, rs1188506084, rs760134827, rs1553415041, rs1054159992, rs1384701659, rs748031071, rs1226800998, rs1553414563, rs1553414600, rs1553414843, rs772638759, rs1553414079, rs1219494274, rs764908423, rs1344601362, rs1413274209, rs1553413155, rs747488546, rs1553414133, rs371243939, rs1442918125, rs1553414868, rs1229517379, rs1558548925, rs1558557428, rs754826836, rs1558558976, rs753338851, rs1201942473, rs773257111, rs1360625972, rs1172381352, rs1644755212, rs1057517173, rs1292415045, rs759017288, rs1644529451, rs763073466, rs1237252052, rs567349821, rs1644722881, rs747762186, rs765011829, rs138690664, rs1209147330, rs770093969, rs1408325840, rs1223142821, rs1382219911, rs1644755133	RCV005645255 RCV002509664 RCV001825976 RCV005645261 RCV001826142 RCV003447597 RCV003479323 RCV001836391 RCV005645272 RCV005645275 RCV003448409 RCV002282538 RCV004526122 RCV003771260 RCV001831402 RCV005645274 RCV003331144 RCV002271662 RCV003333168 RCV001731123 RCV003317526 RCV005645303 RCV005645304 RCV001815058 RCV001815062 RCV001815063 RCV001815064 RCV001823791 RCV001848632 RCV005645342 RCV005645334 RCV005645341 RCV003226510 RCV005645348 RCV003448446 RCV005645359 RCV005623461 RCV005645338 RCV005645339 RCV004587273 RCV003772952 RCV005645355 RCV005645356 RCV005645345 RCV004554881 RCV003447611 RCV003401965 RCV004699585 RCV005645357 RCV005645358 RCV004765362 RCV002300620 RCV002236196 RCV002271703 RCV005238090 RCV005645340 RCV002227917 RCV002236393 RCV002247169 RCV002247170 RCV005645030 RCV004586587 RCV002265652 RCV001831990 RCV001264499 RCV001582665 RCV005645029 RCV004586588 RCV005645430 RCV003324080 RCV005645432 RCV005645433 RCV003388160 RCV005645434 RCV005645436 RCV005645446 RCV005052860 RCV003447629 RCV003447632 RCV005645407 RCV005645411 RCV004554889 RCV003317752 RCV003317753 RCV003323272 RCV005410957 RCV003405069 RCV003447660 RCV003447838 RCV003447840 RCV003447850 RCV003447851 RCV003447911 RCV003447912 RCV003447913 RCV003448502 RCV003448554 RCV003448556 RCV003448652 RCV003448653 RCV003448655 RCV005645484 RCV005645485 RCV005645486 RCV005645487 RCV005645488 RCV005645489 RCV005645490 RCV003448658 RCV003448893 RCV003448894 RCV003448895 RCV003448896 RCV003448897 RCV003448901 RCV003480004 RCV001582482 RCV004700234 RCV000589324 RCV003486545 RCV001273156 RCV000207183 RCV000207084 RCV000207270 RCV000207096 RCV000207209 RCV000364426 RCV005644485 RCV000590781 RCV001553715 RCV001194283 RCV005644486 RCV003448247 RCV001826462 RCV001275108 RCV001804731 RCV005645502 RCV005645503 RCV005645504 RCV005645505 RCV005645507 RCV005645508 RCV005419650 RCV004526999 RCV005052064 RCV005254859 RCV005645768 RCV003881689 RCV003881690 RCV003881692 RCV004555139 RCV001255507 RCV005418102 RCV005645078 RCV001175579 RCV002230216 RCV005645074 RCV005645076 RCV005645075 RCV005645079 RCV005238959 RCV005645077 RCV000778967 RCV001833531 RCV005645085 RCV001805108 RCV005239117 RCV000709831 RCV000587658 RCV005645111 RCV005407789 RCV001834914 RCV001731812 RCV001730702 RCV003447551 RCV005645151 RCV005407861 RCV005645140 RCV005645134 RCV001730705 RCV005645145 RCV005645135 RCV005645143 RCV004586858 RCV005407873 RCV005407855 RCV005645149 RCV005240419 RCV005645146 RCV005645152 RCV003155277 RCV005645144 RCV004586861 RCV002509504 RCV005645139 RCV001829847 RCV001275109 RCV001779046 RCV001829834 RCV003479197 RCV005645141 RCV003226368 RCV005645136 RCV001275110 RCV005645133 RCV004800532 RCV005645150 RCV001825460 RCV004689876 RCV000779691 RCV000779692 RCV000779693 RCV003330963 RCV004782623 RCV003447575 RCV005645196 RCV005645204 RCV003387956 RCV005645198 RCV001732028 RCV001194282 RCV001732069 RCV005645222 RCV001779133 RCV005645226 RCV005236686 RCV005645224 RCV003235509 RCV004800747 RCV001830009 RCV001251316 RCV001264416 RCV004782688 RCV001264483 RCV005645247 RCV001290555 RCV001830171 RCV003447585	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypophosphatemia	Likely pathogenic; Pathogenic	rs786204530	RCV000845007	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Infantile hypophosphatasia	Likely pathogenic; Pathogenic	rs768053120, rs1644478533, rs121918003, rs746273959, rs1312528958, rs1215600806, rs1644592603, rs1644687066, rs776117933, rs2148195004, rs765458125, rs2148152544, rs2148135255, rs1558549798, rs772682471, rs1644722925, rs761836226, rs2148171286, rs781272386, rs2148192403, rs1196976671, rs756418235, rs552831415, rs770548228, rs966212736, rs757771793, rs763457259, rs2545351166, rs2545324318, rs2545304123, rs2545317559, rs2545342154, rs2545303976, rs2545334663, rs2545299251, rs2545299657, rs2545317362, rs2545303525, rs781264043, rs786204530, rs199590449, rs766076920, rs786204442, rs786204634, rs786204473, rs755529290, rs752356218, rs2545342795, rs1333485956, rs121918000, rs121918001, rs121918002, rs121918005, rs121918007, rs121918008, rs121918009, rs121918010, rs387906525, rs121918011, rs121918012, rs121918013, rs749544042, rs121918014, rs121918016, rs121918018, rs121918019, rs121918020, rs1057516230, rs764322898, rs1057516334, rs1057517321, rs763244290, rs1057516293, rs1057517304, rs750174638, rs769948289, rs1057516526, rs768160006, rs1057516702, rs1057517391, rs1057516622, rs1057517322, rs771540767, rs149889416, rs1057517173, rs1057517337, rs199665722, rs766656419, rs1553415164, rs1490668038, rs751404811, rs1558543066, rs763159520, rs1558557341, rs1553411779, rs1553411890, rs1553411920, rs1176474582, rs916300043, rs1553413512, rs1553414560, rs1553412268, rs1188506084, rs760134827, rs1553415041, rs1054159992, rs1384701659, rs1553412310, rs748031071, rs1226800998, rs1553414563, rs1553414600, rs1553414611, rs1553414843, rs1553415035, rs772638759, rs1553414079, rs1219494274, rs764908423, rs1344601362, rs1413274209, rs1553413155, rs747488546, rs769020799, rs1553414133, rs371243939, rs1442918125, rs1553414868, rs1229517379, rs768976020, rs1558548925, rs1558557428, rs753338851, rs1201942473, rs1360625972, rs1644755212, rs1292415045, rs759017288, rs763073466, rs567349821, rs1644722881, rs747762186, rs765011829, rs138690664, rs770093969, rs1408325840, rs780790767, rs1223142821, rs1382219911, rs1644755133	RCV003389335 RCV002493933 RCV004556085 RCV001449738 RCV005401834 RCV004796630 RCV005014548 RCV005014538 RCV005014602 RCV002496057 RCV005014660 RCV002489891 RCV005016734 RCV002507646 RCV002492119 RCV005017000 RCV004765360 RCV002497930 RCV005008303 RCV005016955 RCV005016956 RCV002497923 RCV002492124 RCV005016944 RCV005017072 RCV005016799 RCV005008367 RCV002243489 RCV002288397 RCV002306522 RCV002309806 RCV002310038 RCV002308067 RCV002308330 RCV002309029 RCV002309125 RCV002306882 RCV002310451 RCV002310579 RCV000169295 RCV000169231 RCV000169128 RCV000169383 RCV000169064 RCV000169412 RCV000169122 RCV000169514 RCV003388642 RCV004555665 RCV005021973 RCV000014648 RCV000014649 RCV000014650 RCV000014653 RCV000014655 RCV000014658 RCV000014661 RCV000014663 RCV000014664 RCV000014665 RCV000169168 RCV000670940 RCV000169426 RCV000710058 RCV000014672 RCV000014674 RCV000668001 RCV000014677 RCV000014679 RCV005014802 RCV000411162 RCV000409382 RCV000410316 RCV000411021 RCV000411776 RCV000408970 RCV000411240 RCV000409728 RCV000412052 RCV000411878 RCV000409238 RCV000409870 RCV000410728 RCV000412264 RCV000412106 RCV000411905 RCV000411942 RCV000410612 RCV000411326 RCV000984145 RCV006257296 RCV000669962 RCV000674432 RCV005010577 RCV000984144 RCV000678683 RCV000674297 RCV000684765 RCV000666764 RCV000671198 RCV000674897 RCV000674250 RCV000667160 RCV000669273 RCV000665524 RCV000669326 RCV000671010 RCV000666790 RCV000670188 RCV000667672 RCV000674894 RCV000664567 RCV000674696 RCV000672920 RCV000664774 RCV000671791 RCV000675018 RCV000672795 RCV000670217 RCV000667090 RCV000669598 RCV000673147 RCV000668470 RCV000668539 RCV000670296 RCV000667568 RCV000666509 RCV000670798 RCV000670035 RCV000674883 RCV000667084 RCV000665189 RCV000665417 RCV000674648 RCV000672960 RCV005021121 RCV002493325 RCV000761222 RCV001536120 RCV005021229 RCV005021310 RCV005021343 RCV005021369 RCV001844265 RCV001810492 RCV005021487 RCV005021490 RCV002497720 RCV005021503 RCV001257429 RCV001257096 RCV002484387 RCV005012697 RCV005014309 RCV001257430 RCV005014317 RCV005012740 RCV005014362	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Melanoma	Likely pathogenic	rs2545317849	RCV005931329	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Micromelia	Likely pathogenic; Pathogenic	rs1215600806	RCV002286432	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Odontohypophosphatasia	Likely pathogenic; Pathogenic	rs121918007, rs121918011, rs121918013, rs121918015, rs121918018, rs763159520	RCV001250150 RCV004798728 RCV000014670 RCV000014673 RCV000014676 RCV005251002	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Osteogenesis imperfecta	Likely pathogenic; Pathogenic	rs779832611, rs121918002, rs121918007, rs121918009, rs121918011, rs121918019, rs1057521085, rs781272386, rs763159520, rs371243939, rs753338851	RCV002276955 RCV002276545 RCV002276546 RCV002276547 RCV002276548 RCV002276549 RCV002278676 RCV002279370 RCV002279446 RCV002279480 RCV002279545	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ovarian serous cystadenocarcinoma	Likely pathogenic; Pathogenic	rs764322898, rs1057517391	RCV005900629 RCV005908938	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Perinatal lethal hypophosphatasia	Pathogenic; Likely pathogenic	rs749544042, rs121918014	RCV000014671 RCV000169778	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALPL-RELATED AUTOSOMAL DOMINANT HYPOPHOSPHATASIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AORTIC STENOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AORTIC VALVE CALCIFICATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLADDER CALCULUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE DISEASES, METABOLIC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CALCINOSIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD-ONSET HYPOPHOSPHATASIA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONNECTIVE TISSUE DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Connective tissue disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERPARATHYROIDISM, SECONDARY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC BONE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple epiphyseal dysplasia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROLITHIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEIZURES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URETEROLITHIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UROLITHIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adult hypophosphatasia	Hypophosphatasia	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Adult hypophosphatasia (disorder)	Hypophosphatasia	UNIPROT_DG	10094560, 10332035, 10679946, 10690885, 10834525, 11438998, 11479741, 11745997, 11760847, 11834095, 11855933, 11999978, 12815606, 12920074, 1409720, 15135428, 15694177, 19500388, 22266140, 23039266, 23688511, 25982064, 3174660, 7833929, 8406453, 8954059, 9452105, 9747027, 9781036		★☆☆☆☆ Found in Text Mining only
Adult hypophosphatasia (disorder)	Hypophosphatasia	BEFREE	10679946, 11834095, 15629439, 19500388, 20739387		★☆☆☆☆ Found in Text Mining only
Adult hypophosphatasia (disorder)	Hypophosphatasia	ORPHANET_DG	10737975, 17916236		★☆☆☆☆ Found in Text Mining only
Adult hypophosphatasia (disorder)	Hypophosphatasia	GENOMICS_ENGLAND_DG	17213282, 30979546		★☆☆☆☆ Found in Text Mining only
Adult hypophosphatasia (disorder)	Hypophosphatasia	CLINVAR_DG	18455459		★☆☆☆☆ Found in Text Mining only
Adult hypophosphatasia (disorder)	Hypophosphatasia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Adult Rickets	Rickets	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	17195227, 18769922, 19772829, 23612078, 29754330		★☆☆☆☆ Found in Text Mining only
Anorexia	Anorexia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	26032516		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	26032516		★☆☆☆☆ Found in Text Mining only
Appendicitis	Appendicitis	Pubtator	27417541	Stimulate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	31304837		★☆☆☆☆ Found in Text Mining only
Arthralgia	Arthralgia	Pubtator	36514157	Associate	★☆☆☆☆ Found in Text Mining only
Arthrogryposis, renal dysfunction, and cholestasis 1	Arthrogryposis, Renal Dysfunction, And Cholestasis	BEFREE	31092635		★☆☆☆☆ Found in Text Mining only
Arthropathy	Arthropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	24582314, 30682452		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	31903716	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	31304837		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	BEFREE	10727673, 17922851, 24569605, 30446691, 30915507		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	29659871, 33191482, 36361766, 37107680	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases Metabolic	Bone disease	Pubtator	32572521, 36361766, 37192015	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	8507182		★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	31852220	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Calcinosis	Calcinosis	Pubtator	32375544, 39755217	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Calcium pyrophosphate deposition disease	Chondrocalcinosis	BEFREE	17043047		★☆☆☆☆ Found in Text Mining only
Calcium pyrophosphate deposition disease	Chondrocalcinosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
CAMPOMELIC DYSPLASIA	Campomelic Dysplasia	BEFREE	26432670		★☆☆☆☆ Found in Text Mining only
Campomelic Dysplasia	Campomelic dysplasia	Pubtator	26432670	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	34222474	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	30837522		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	30837522	Associate	★☆☆☆☆ Found in Text Mining only
Cartilage Diseases	Cartilage disease	Pubtator	19723327	Associate	★☆☆☆☆ Found in Text Mining only
Childhood hypophosphatasia (disorder)	Hypophosphatasia	ORPHANET_DG	10737975, 17916236		★☆☆☆☆ Found in Text Mining only
Childhood hypophosphatasia (disorder)	Hypophosphatasia	BEFREE	11760847, 25100374, 9781036		★☆☆☆☆ Found in Text Mining only
Childhood hypophosphatasia (disorder)	Hypophosphatasia	UNIPROT_DG	11760847		★☆☆☆☆ Found in Text Mining only
Childhood hypophosphatasia (disorder)	Hypophosphatasia	CLINVAR_DG	1409720, 17719863, 19500388, 20739387, 24569605		★☆☆☆☆ Found in Text Mining only
Childhood hypophosphatasia (disorder)	Hypophosphatasia	GENOMICS_ENGLAND_DG	17213282, 30979546		★☆☆☆☆ Found in Text Mining only
Childhood hypophosphatasia (disorder)	Hypophosphatasia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Childhood-onset hypophosphatasia	Hypophosphatasia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chondrocalcinosis	Chondrocalcinosis	Pubtator	36514157	Associate	★☆☆☆☆ Found in Text Mining only
Chronic recurrent multifocal osteomyelitis	Recurrent multifocal osteomyelitis	Pubtator	19335222	Associate	★☆☆☆☆ Found in Text Mining only
Clonic Seizures	Clonic Seizures	CTD_human_DG	27466191, 7550313		★☆☆☆☆ Found in Text Mining only
Cockayne Syndrome	Cockayne Syndrome	BEFREE	31690656		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	28039309		★☆☆☆☆ Found in Text Mining only
Complex partial seizures	Seizure	CTD_human_DG	27466191, 7550313		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	31304837		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	31304837		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	31304837		★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	19723327, 24467728		★☆☆☆☆ Found in Text Mining only
Dental Diseases	Dental Diseases	BEFREE	29659871		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	26032516		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	27873077		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	23454488		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	12162492	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	26032516, 28072448		★☆☆☆☆ Found in Text Mining only
Epileptic drop attack	Hypotonic seizures	CTD_human_DG	27466191, 7550313		★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Generalized seizures	Seizure	CTD_human_DG	27466191, 7550313		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	31137733	Associate	★☆☆☆☆ Found in Text Mining only
Graves Ophthalmopathy	Graves ophthalmopathy	Pubtator	38130930	Associate	★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	32772198	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary pyropoikilocytosis	Hereditary pyropoikilocytosis	BEFREE	18559907, 19500388, 20739387, 21179104, 21212313, 21419245, 22014174, 22266140, 22394703, 22703652, 23039266, 23419404, 23688511, 23791648, 24276437, 25982064, 26432670, 26590809, 27466191, 27582029, 27777120, 28000043, 28072448, 29160033, 29236161, 29360619, 29551976, 30012160, 30215116, 30446691, 30655187, 30700765, 30764793, 30825650, 30979366, 31077853, 31146036, 31178256, 31267001, 31482504, 31641588, 31760938, 31793067		★☆☆☆☆ Found in Text Mining only
Hypercalcemia	Hypercalcemia	BEFREE	26675490		★☆☆☆☆ Found in Text Mining only
Hypercalcemia	Hypercalcemia	Pubtator	40409424	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypercalcemia	Hypercalcemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	31304837		★☆☆☆☆ Found in Text Mining only
Hyperostosis	Hyperostosis	LHGDN	12788869		★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism, Secondary	Hyperparathyroidism	CTD_human_DG	22373954		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypochondroplasia (disorder)	Hypochondroplasia	BEFREE	28763161		★☆☆☆☆ Found in Text Mining only
Hypophosphatasia	Hypophosphatasia	BEFREE	10094560, 10332035, 10451522, 10679946, 10690885, 11438998, 11745997, 11810413, 11834095, 12162492, 12357339, 12412800, 12424591, 1360878, 15300736, 15660230, 15671102, 15694177, 17212778, 17253930, 17552940, 17922851, 18219546, 18559907, 19232125, 19940865, 20924064, 21168482, 21179104, 21212313, 21419245, 21488855, 21564408, 21638016, 22014174, 22266140, 22300680, 22394703, 22703652, 23039266, 23419404, 23454488, 23688511, 23791648, 24022022, 24100244, 24569605, 25023282, 25100374, 25958132, 26032516, 26245849, 26432670, 26590809, 26893260, 27466191, 27561677, 27582029, 28000043, 28072448, 28586049, 28763161, 29061541, 29160033, 29236161, 29360619, 29551976, 30012160, 30203264, 30215116, 30300686, 30446691, 30508915, 30700765, 30825650, 30915507, 30979366, 30979497, 31000369, 31146036, 31178256, 31267001, 31600233, 31641588, 31707452, 31760938, 31793067, 8406453, 8675582, 8954059, 9747027, 9781036, 9814472		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypophosphatasia	Hypophosphatasia	CLINVAR_DG	10094560, 10332035, 10839996, 11438998, 11760847, 11855933, 12162492, 12357339, 1409720, 15135428, 15137467, 15694177, 17719863, 18455459, 18769927, 18821074, 18925618, 19500388, 20739387, 22913777, 24276437, 24569605, 25023282, 25731960, 26783040, 27179278, 28401263, 30293248, 8954059, 9452105		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypophosphatasia	Hypophosphatasia	GENOMICS_ENGLAND_DG	10737975, 18769927		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypophosphatasia	Hypophosphatasia	Pubtator	11395499, 12162492, 1409720, 16803637, 16815919, 1689104, 17241478, 17384481, 18219546, 18559907, 19232125, 19335222, 19500388, 22014174, 22322541, 22394703, 22397652, 22703652, 23419404, 23509830, 23791648, 24022022, 24064686, 24123110, 24569605, 25736332, 26432670, 27086862, 27179278, 27699270, 28436937, 28586049, 28663156, 29659871, 29724887, 30468149, 30508901, 30764793, 30929401, 31014398, 31267001, 31600233, 31787692, 31793067, 32160374, 32333908, 32572521, 32654183, 32772198, 32779619, 32912883, 32973344, 33191482, 33391183, 33579333, 33814268, 33827627, 34033304, 34097127, 34176466, 34438404, 34673643, 34711245, 34854399, 35068125, 35197081, 35229197, 35276006, 35320273, 35498405, 35700635, 35878747, 35964540, 36072928, 36152425, 36361766, 36427976, 36444396, 36514157, 36613725, 36820543, 37107680, 37147467, 37408354, 37487860, 37600704, 37758163, 37839783, 37898381, 38234425, 38307176, 38325645, 39276275, 39519277, 39983296, 40409424, 7706447, 9403706	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypophosphatasia	Hypophosphatasia	LHGDN	11438998, 11810413, 12638946, 12815606, 15629439, 17229666, 17253930		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypophosphatasia	Hypophosphatasia	Pubtator	12674323, 17384481, 32879991, 36414794	Inhibit	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypophosphatasia	Hypophosphatasia	CTD_human_DG	27466191		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypophosphatasia Adult	Hypophosphatasia	Pubtator	29724887, 31014398, 31267001, 32572521, 33191482, 34097127, 35498405	Associate	★☆☆☆☆ Found in Text Mining only
Hypophosphatasia, Perinatal Lethal	Hypophosphatasia	ORPHANET_DG	10737975, 17916236		★☆☆☆☆ Found in Text Mining only
Hypophosphatasia, Perinatal Lethal	Hypophosphatasia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Inborn Errors of Metabolism	Inborn Errors Of Metabolism	BEFREE	10737975, 11745997, 15300736, 23039266, 29360619, 30012160, 30215116, 31641588		★☆☆☆☆ Found in Text Mining only
Infantile hypophosphatasia	Hypophosphatasia	CLINVAR_DG	10094560, 10332035, 10679946, 10839996, 11438998, 11479741, 11745997, 11760847, 11810413, 11855933, 11999978, 12162492, 12638946, 12815606, 1409720, 15135428, 15137467, 15300736, 15660230, 15694177, 15794757, 15840803, 16583935, 16769381, 17253930, 17409132, 17719863, 17922851, 18386808, 18455459, 18523927, 18559907, 18769927, 18925618, 19232125, 19335222, 19500388, 20049532, 20383509, 20924064, 21168482, 21713987, 21956185, 22014174, 22397652, 23454488, 23509830, 23580367, 23688511, 23926372, 24100244, 24145968, 24276437, 24569605, 25731960, 25736332, 26432670, 26459154, 26783040, 27179278, 27312557, 28127875, 28401263, 28436937, 28506345, 28663156, 28939177, 29236161, 3174660, 8406453, 9452105, 9562633, 9618260, 9781036		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Infantile hypophosphatasia	Hypophosphatasia	BEFREE	10397525, 11760847, 11834095, 12412800, 1689104, 18523927, 21212313, 21704546, 27086862, 27777120, 3128473, 8606878		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Infantile hypophosphatasia	Hypophosphatasia	ORPHANET_DG	10737975, 17916236		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Infantile hypophosphatasia	Hypophosphatasia	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Infantile hypophosphatasia	Hypophosphatasia	UNIPROT_DG	10834525, 11438998, 7833929, 8954059		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Infantile hypophosphatasia	Hypophosphatasia	GENOMICS_ENGLAND_DG	17213282, 30979546, 3174660		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Infantile hypophosphatasia	Hypophosphatasia	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Infantile hypophosphatasia	Hypophosphatasia	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Jacksonian Seizure	Jacksonian Seizure	CTD_human_DG	27466191, 7550313		★☆☆☆☆ Found in Text Mining only
Kidney Calculi	Kidney stone	BEFREE	26272126, 29489416, 31754202		★☆☆☆☆ Found in Text Mining only
Kidney Calculi	Kidney stone	GWASCAT_DG	26272126		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	LHGDN	16932897		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	29268128		★☆☆☆☆ Found in Text Mining only
Leukemia Promyelocytic Acute	Promyelocytic leukemia	Pubtator	7780146	Associate	★☆☆☆☆ Found in Text Mining only
Long narrow head	Dolichocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	28663156	Associate	★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development	Cortical development malformation	Pubtator	34673643	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	8507182		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	28006818		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	31092635		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	10589773		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	LHGDN	11528114		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	26032516		★☆☆☆☆ Found in Text Mining only
Metabolic Bone Disorder	Metabolic Bone Disorder	CTD_human_DG	26773408		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metabolic Bone Disorder	Metabolic Bone Disorder	BEFREE	27466191, 29236161, 30700765		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metabolic Diseases	Metabolic Diseases	BEFREE	29160033		★☆☆☆☆ Found in Text Mining only
Micromelia	Micromelia	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	Pubtator	35755167, 36829193	Associate	★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11528114, 28006818		★☆☆☆☆ Found in Text Mining only
Nephrocalcinosis	Nephrocalcinosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	BEFREE	26272126, 29489416, 31754202		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nephrolithiasis	Nephrolithiasis	Pubtator	31754202	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nephrolithiasis Calcium Oxalate	Nephrolithiasis	Pubtator	31754202, 35741705	Associate	★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	28072448		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	30837522		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	30837522	Stimulate	★☆☆☆☆ Found in Text Mining only
Odontohypophosphatasia	ODONTOHYPOPHOSPHATASIA	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ODONTOHYPOPHOSPHATASIA (disorder)	ODONTOHYPOPHOSPHATASIA	ORPHANET_DG	10737975, 17916236		★☆☆☆☆ Found in Text Mining only
ODONTOHYPOPHOSPHATASIA (disorder)	ODONTOHYPOPHOSPHATASIA	BEFREE	23791648		★☆☆☆☆ Found in Text Mining only
ODONTOHYPOPHOSPHATASIA (disorder)	ODONTOHYPOPHOSPHATASIA	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	22820497, 23671648, 36142513	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis Knee	Osteoarthritis	Pubtator	24123110	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis of hip	Osteoarthritis Of Hip	BEFREE	22820497		★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	LHGDN	15562030		★☆☆☆☆ Found in Text Mining only
Osteogenesis Imperfecta	Osteogenesis Imperfecta	BEFREE	26432670		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Osteogenesis Imperfecta	Osteogenesis imperfecta	Pubtator	26432670, 37758163	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Osteomalacia	Osteomalacia	Pubtator	19335222, 22322541, 24064686, 24123110, 25736332, 38307176	Associate	★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	CTD_human_DG	26773408		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	15824850, 31793067		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	23353624, 29568943, 31014398, 31793067	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis, Age-Related	Osteoporosis	BEFREE	15824850		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	26161668		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	32173717	Associate	★☆☆☆☆ Found in Text Mining only
Osteosclerosis	Osteosclerosis	LHGDN	12788869		★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	29659871	Associate	★☆☆☆☆ Found in Text Mining only
Peeling Skin Syndrome	Peeling skin syndrome	Pubtator	22322541	Associate	★☆☆☆☆ Found in Text Mining only
Perinatal lethal hypophosphatasia	Lethal Hypophosphatasia	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Periodontal Diseases	Periodontal Diseases	LHGDN	16681433		★☆☆☆☆ Found in Text Mining only
Pigmentation Disorders	Pigmentation Disorders	BEFREE	31092635		★☆☆☆☆ Found in Text Mining only
Prenatal benign hypophosphatasia	Benign Hypophosphatasia	Orphanet			★☆☆☆☆ Found in Text Mining only
Progeria	Progeria	BEFREE	31690656		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	28006818		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	14756545		★☆☆☆☆ Found in Text Mining only
Pseudoxanthoma Elasticum	Pseudoxanthoma elasticum	BEFREE	30130617		★☆☆☆☆ Found in Text Mining only
Pulmonary Eosinophilia	Pulmonary Eosinophilia	BEFREE	24582314		★☆☆☆☆ Found in Text Mining only
Rachitic rosary	Rachitic rosary	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rickets	Rickets	Pubtator	19335222, 24123110, 38307176	Associate	★☆☆☆☆ Found in Text Mining only
Rickets	Rickets	BEFREE	21212313		★☆☆☆☆ Found in Text Mining only
Rickets	Rickets	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	23283492	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis	Scoliosis	Pubtator	37192015	Associate	★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	28448526, 31778743		★☆☆☆☆ Found in Text Mining only
Single Seizure	Seizure	CTD_human_DG	27466191, 7550313		★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Spondylitis Ankylosing	Ankylosing spondylitis	Pubtator	17195227, 23612078	Associate	★☆☆☆☆ Found in Text Mining only
Spondylocostal dysostosis autosomal recessive	Spondylocostal dysostosis	Pubtator	32572521	Associate	★☆☆☆☆ Found in Text Mining only
Taurodontism	Taurodontism	BEFREE	17552940		★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	CTD_human_DG	27466191, 7550313		★☆☆☆☆ Found in Text Mining only
Tooth Abnormalities	Tooth abnormalities	Pubtator	23791648, 31267001, 32066479	Associate	★☆☆☆☆ Found in Text Mining only
Tooth Diseases	Tooth disease	Pubtator	33191482	Associate	★☆☆☆☆ Found in Text Mining only
Tumoral calcinosis	Tumoral Calcinosis	CTD_human_DG	21193197		★☆☆☆☆ Found in Text Mining only
Vascular Calcification	Vascular calcification	Pubtator	26418500, 30476723	Associate	★☆☆☆☆ Found in Text Mining only
Visual seizure	Seizure	CTD_human_DG	27466191, 7550313		★☆☆☆☆ Found in Text Mining only