Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	9791
Gene name	Phosphatidylserine synthase 1
Gene symbol	PTDSS1
Synonyms (NCBI Gene)	LMHDPSS1PSSA
Chromosome	8
Chromosome location	8q22.1
Summary	The protein encoded by this gene catalyzes the formation of phosphatidylserine from either phosphatidylcholine or phosphatidylethanolamine. Phosphatidylserine localizes to the mitochondria-associated membrane of the endoplasmic reticulum, where it serves

Show/Hide all (4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs587777088	A>G	Pathogenic	Missense variant, coding sequence variant
rs587777089	C>T	Pathogenic	Missense variant, coding sequence variant
rs587777090	T>C	Pathogenic	Missense variant, coding sequence variant
rs1057521718	A>G,T	Likely-pathogenic	Missense variant, coding sequence variant, intron variant

211

Show/Hide all (211)

miRTarBase ID	miRNA	Experiments	Reference
MIRT037324	hsa-miR-877-5p	CLASH	23622248
MIRT617521	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT617520	hsa-miR-4643	HITS-CLIP	23824327
MIRT617519	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT617518	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT617517	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT617516	hsa-miR-466	HITS-CLIP	23824327
MIRT617515	hsa-miR-1229-3p	HITS-CLIP	23824327
MIRT617521	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT617520	hsa-miR-4643	HITS-CLIP	23824327
MIRT617518	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT617517	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT617516	hsa-miR-466	HITS-CLIP	23824327
MIRT617515	hsa-miR-1229-3p	HITS-CLIP	23824327
MIRT625192	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT625191	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT625190	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT617521	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT617520	hsa-miR-4643	HITS-CLIP	23824327
MIRT617517	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT617516	hsa-miR-466	HITS-CLIP	23824327
MIRT625192	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT625191	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT625190	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT617521	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT617520	hsa-miR-4643	HITS-CLIP	23824327
MIRT617519	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT617518	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT617517	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT617516	hsa-miR-466	HITS-CLIP	23824327
MIRT617515	hsa-miR-1229-3p	HITS-CLIP	23824327
MIRT617521	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT617520	hsa-miR-4643	HITS-CLIP	23824327
MIRT617519	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT617518	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT617517	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT617516	hsa-miR-466	HITS-CLIP	23824327
MIRT617515	hsa-miR-1229-3p	HITS-CLIP	23824327
MIRT617521	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT617520	hsa-miR-4643	HITS-CLIP	23824327
MIRT617518	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT617517	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT617516	hsa-miR-466	HITS-CLIP	23824327
MIRT617515	hsa-miR-1229-3p	HITS-CLIP	23824327
MIRT625192	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT625191	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT625190	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT617521	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT617520	hsa-miR-4643	HITS-CLIP	23824327
MIRT617517	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT617516	hsa-miR-466	HITS-CLIP	23824327
MIRT625192	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT625191	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT625190	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT617521	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT617520	hsa-miR-4643	HITS-CLIP	23824327
MIRT617519	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT617518	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT617517	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT617516	hsa-miR-466	HITS-CLIP	23824327
MIRT617515	hsa-miR-1229-3p	HITS-CLIP	23824327
MIRT1272217	hsa-miR-106a	CLIP-seq
MIRT1272218	hsa-miR-106b	CLIP-seq
MIRT1272219	hsa-miR-1257	CLIP-seq
MIRT1272220	hsa-miR-17	CLIP-seq
MIRT1272221	hsa-miR-182	CLIP-seq
MIRT1272222	hsa-miR-20a	CLIP-seq
MIRT1272223	hsa-miR-20b	CLIP-seq
MIRT1272224	hsa-miR-3609	CLIP-seq
MIRT1272225	hsa-miR-3677-5p	CLIP-seq
MIRT1272226	hsa-miR-4257	CLIP-seq
MIRT1272227	hsa-miR-4539	CLIP-seq
MIRT1272228	hsa-miR-4713-3p	CLIP-seq
MIRT1272229	hsa-miR-4796-3p	CLIP-seq
MIRT1272230	hsa-miR-519d	CLIP-seq
MIRT1272231	hsa-miR-548ah	CLIP-seq
MIRT1272232	hsa-miR-548t	CLIP-seq
MIRT1272233	hsa-miR-93	CLIP-seq
MIRT1272219	hsa-miR-1257	CLIP-seq
MIRT1272221	hsa-miR-182	CLIP-seq
MIRT1272219	hsa-miR-1257	CLIP-seq
MIRT1272221	hsa-miR-182	CLIP-seq
MIRT2080031	hsa-miR-214	CLIP-seq
MIRT2080032	hsa-miR-329	CLIP-seq
MIRT2080033	hsa-miR-3619-5p	CLIP-seq
MIRT2080034	hsa-miR-362-3p	CLIP-seq
MIRT1272226	hsa-miR-4257	CLIP-seq
MIRT2080035	hsa-miR-4690-5p	CLIP-seq
MIRT1272228	hsa-miR-4713-3p	CLIP-seq
MIRT2080036	hsa-miR-761	CLIP-seq
MIRT2306336	hsa-miR-1226	CLIP-seq
MIRT2306337	hsa-miR-1245b-3p	CLIP-seq
MIRT1272219	hsa-miR-1257	CLIP-seq
MIRT1272221	hsa-miR-182	CLIP-seq
MIRT2306338	hsa-miR-200b	CLIP-seq
MIRT2306339	hsa-miR-200c	CLIP-seq
MIRT2306340	hsa-miR-3680	CLIP-seq
MIRT2306341	hsa-miR-4276	CLIP-seq
MIRT2306342	hsa-miR-429	CLIP-seq
MIRT2306343	hsa-miR-4318	CLIP-seq
MIRT2306344	hsa-miR-4474-3p	CLIP-seq
MIRT2306345	hsa-miR-4504	CLIP-seq
MIRT2306346	hsa-miR-4670-3p	CLIP-seq
MIRT2306347	hsa-miR-4733-3p	CLIP-seq
MIRT2306348	hsa-miR-4798-3p	CLIP-seq
MIRT2306349	hsa-miR-488	CLIP-seq
MIRT2306350	hsa-miR-545	CLIP-seq
MIRT2306351	hsa-miR-548ag	CLIP-seq
MIRT2306352	hsa-miR-548ai	CLIP-seq
MIRT2306353	hsa-miR-548m	CLIP-seq
MIRT2306354	hsa-miR-634	CLIP-seq
MIRT2306355	hsa-miR-662	CLIP-seq
MIRT1272219	hsa-miR-1257	CLIP-seq
MIRT1272221	hsa-miR-182	CLIP-seq
MIRT2393168	hsa-miR-3150a-3p	CLIP-seq
MIRT2393169	hsa-miR-3175	CLIP-seq
MIRT2393170	hsa-miR-4434	CLIP-seq
MIRT2393171	hsa-miR-4516	CLIP-seq
MIRT2393172	hsa-miR-4667-5p	CLIP-seq
MIRT2393173	hsa-miR-4700-5p	CLIP-seq
MIRT2393174	hsa-miR-4731-5p	CLIP-seq
MIRT2393175	hsa-miR-939	CLIP-seq
MIRT2603619	hsa-miR-1236	CLIP-seq
MIRT2603620	hsa-miR-1281	CLIP-seq
MIRT2603621	hsa-miR-146b-3p	CLIP-seq
MIRT2603622	hsa-miR-1914	CLIP-seq
MIRT2603623	hsa-miR-302a	CLIP-seq
MIRT2603624	hsa-miR-302b	CLIP-seq
MIRT2603625	hsa-miR-302c	CLIP-seq
MIRT2603626	hsa-miR-302d	CLIP-seq
MIRT2603627	hsa-miR-302e	CLIP-seq
MIRT2603628	hsa-miR-3074-5p	CLIP-seq
MIRT2603629	hsa-miR-3153	CLIP-seq
MIRT2603630	hsa-miR-3157-3p	CLIP-seq
MIRT2603631	hsa-miR-3173-5p	CLIP-seq
MIRT2603632	hsa-miR-3671	CLIP-seq
MIRT2603633	hsa-miR-370	CLIP-seq
MIRT2603634	hsa-miR-371-5p	CLIP-seq
MIRT2603635	hsa-miR-371b-3p	CLIP-seq
MIRT2603636	hsa-miR-371b-5p	CLIP-seq
MIRT2603637	hsa-miR-372	CLIP-seq
MIRT2603638	hsa-miR-373	CLIP-seq
MIRT2603639	hsa-miR-4261	CLIP-seq
MIRT2603640	hsa-miR-4290	CLIP-seq
MIRT2603641	hsa-miR-4327	CLIP-seq
MIRT2603642	hsa-miR-4446-5p	CLIP-seq
MIRT2603643	hsa-miR-4648	CLIP-seq
MIRT2603644	hsa-miR-4654	CLIP-seq
MIRT2603645	hsa-miR-4668-5p	CLIP-seq
MIRT2306346	hsa-miR-4670-3p	CLIP-seq
MIRT2603646	hsa-miR-4695-3p	CLIP-seq
MIRT2603647	hsa-miR-4715-3p	CLIP-seq
MIRT2603648	hsa-miR-4755-5p	CLIP-seq
MIRT2603649	hsa-miR-4769-5p	CLIP-seq
MIRT2603650	hsa-miR-512-3p	CLIP-seq
MIRT2603651	hsa-miR-520a-3p	CLIP-seq
MIRT2603652	hsa-miR-520b	CLIP-seq
MIRT2603653	hsa-miR-520c-3p	CLIP-seq
MIRT2603654	hsa-miR-520d-3p	CLIP-seq
MIRT2603655	hsa-miR-520e	CLIP-seq
MIRT2603656	hsa-miR-642a	CLIP-seq
MIRT2603657	hsa-miR-874	CLIP-seq
MIRT2603658	hsa-miR-933	CLIP-seq
MIRT2603619	hsa-miR-1236	CLIP-seq
MIRT2603620	hsa-miR-1281	CLIP-seq
MIRT2603621	hsa-miR-146b-3p	CLIP-seq
MIRT2603622	hsa-miR-1914	CLIP-seq
MIRT2603623	hsa-miR-302a	CLIP-seq
MIRT2603624	hsa-miR-302b	CLIP-seq
MIRT2603625	hsa-miR-302c	CLIP-seq
MIRT2603626	hsa-miR-302d	CLIP-seq
MIRT2603627	hsa-miR-302e	CLIP-seq
MIRT2603628	hsa-miR-3074-5p	CLIP-seq
MIRT2603629	hsa-miR-3153	CLIP-seq
MIRT2603630	hsa-miR-3157-3p	CLIP-seq
MIRT2688892	hsa-miR-3168	CLIP-seq
MIRT2603631	hsa-miR-3173-5p	CLIP-seq
MIRT2688893	hsa-miR-3622a-5p	CLIP-seq
MIRT2603632	hsa-miR-3671	CLIP-seq
MIRT2603633	hsa-miR-370	CLIP-seq
MIRT2603634	hsa-miR-371-5p	CLIP-seq
MIRT2603635	hsa-miR-371b-3p	CLIP-seq
MIRT2603636	hsa-miR-371b-5p	CLIP-seq
MIRT2603637	hsa-miR-372	CLIP-seq
MIRT2603638	hsa-miR-373	CLIP-seq
MIRT2603639	hsa-miR-4261	CLIP-seq
MIRT2688894	hsa-miR-4264	CLIP-seq
MIRT2688895	hsa-miR-4277	CLIP-seq
MIRT2603640	hsa-miR-4290	CLIP-seq
MIRT2603641	hsa-miR-4327	CLIP-seq
MIRT2688896	hsa-miR-4423-3p	CLIP-seq
MIRT2603642	hsa-miR-4446-5p	CLIP-seq
MIRT2603643	hsa-miR-4648	CLIP-seq
MIRT2603644	hsa-miR-4654	CLIP-seq
MIRT2603645	hsa-miR-4668-5p	CLIP-seq
MIRT2306346	hsa-miR-4670-3p	CLIP-seq
MIRT2603646	hsa-miR-4695-3p	CLIP-seq
MIRT2603647	hsa-miR-4715-3p	CLIP-seq
MIRT2603648	hsa-miR-4755-5p	CLIP-seq
MIRT2603649	hsa-miR-4769-5p	CLIP-seq
MIRT2688897	hsa-miR-4797-3p	CLIP-seq
MIRT2603650	hsa-miR-512-3p	CLIP-seq
MIRT2603651	hsa-miR-520a-3p	CLIP-seq
MIRT2603652	hsa-miR-520b	CLIP-seq
MIRT2603653	hsa-miR-520c-3p	CLIP-seq
MIRT2603654	hsa-miR-520d-3p	CLIP-seq
MIRT2603655	hsa-miR-520e	CLIP-seq
MIRT2603656	hsa-miR-642a	CLIP-seq
MIRT2688898	hsa-miR-645	CLIP-seq
MIRT2603657	hsa-miR-874	CLIP-seq
MIRT2603658	hsa-miR-933	CLIP-seq

Show/Hide all (20)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	ISS
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006659	Process	Phosphatidylserine biosynthetic process	IDA	19014349
GO:0006659	Process	Phosphatidylserine biosynthetic process	IEA
GO:0006659	Process	Phosphatidylserine biosynthetic process	TAS
GO:0008654	Process	Phospholipid biosynthetic process	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	ISS
GO:0016740	Function	Transferase activity	IEA
GO:0016740	Function	Transferase activity	TAS
GO:0106245	Function	L-serine-phosphatidylethanolamine phosphatidyltransferase activity	IDA	19014349
GO:0106245	Function	L-serine-phosphatidylethanolamine phosphatidyltransferase activity	IEA
GO:0106245	Function	L-serine-phosphatidylethanolamine phosphatidyltransferase activity	IMP	24241535
GO:0106258	Function	L-serine-phosphatidylcholine phosphatidyltransferase activity	IDA	19014349
GO:0106258	Function	L-serine-phosphatidylcholine phosphatidyltransferase activity	IEA
GO:0106258	Function	L-serine-phosphatidylcholine phosphatidyltransferase activity	IMP	24241535

MIM	HGNC	e!Ensembl
612792	9587	ENSG00000156471

P48651

Protein name

Phosphatidylserine synthase 1 (PSS-1) (PtdSer synthase 1) (EC 2.7.8.29) (Serine-exchange enzyme I)

Protein function

Catalyzes a base-exchange reaction in which the polar head group of phosphatidylethanolamine (PE) or phosphatidylcholine (PC) is replaced by L-serine (PubMed:19014349, PubMed:24241535). Catalyzes mainly the conversion of phosphatidylcholine (Pub

PDB

9B4E , 9B4F , 9B4G

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03034	PSS	96 → 372	Phosphatidyl serine synthase	Family

Sequence

MASCVGSRTLSKDDVNYKMHFRMINEQQVEDITIDFFYRPHTITLLSFTIVSLMYFAFTR
DDSVPEDNIWRGILSVIFFFLIISVLAFPNGPFTRPHPALWRMVFGLSVLYFLFLVFLLF
LNFEQVKSLMYWLDPNLRYATREADVMEYAVNCHVITWERIISHFDIFAFGHFWGWAMKA
LLIRSYGLCWTISITWELTELFFMHLLPNFAECWWDQVILDILLCNGGGIWLGMVVCRFL
EMRTYHWASFKDIHTTTGKIKRAVLQFTPASWTYVRWFDPKSSFQRVAGVYLFMIIWQLT
ELNTFFLKHIFVFQASHPLSWGRILFIGGITAPTVRQYYAYLTDTQCKRVGTQCWVFGVI
GFLEAIVCIKFGQDLFSKTQILYVVLWLLCVAFTTFLCLYGMIWYAEHYGHREKTYSECE
DGTYSPEISWHHRKGTKGSEDSPPKHAGNNESHSSRRRNRHSKSKVTNGVGKK

Sequence length

473

Interactions

View interactions

	KEGG		Reactome
	Glycerophospholipid metabolism Metabolic pathways		Synthesis of PS

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)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Lenz-Majewski hyperostosis syndrome	Likely pathogenic; Pathogenic	rs1811091915, rs587777088, rs587777089, rs587777090, rs1131691429	RCV001328789 RCV000083280 RCV000083281 RCV000083282 RCV001253177	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (17)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HUNTINGTON DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL ARTERIAL DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PTDSS1-related disorder	Uncertain significance; Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of the head and neck	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (55)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Absence of septum pellucidum	Absence Of Septum Pellucidum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ankylosis of the elbow joint	Elbow ankylosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Diseases	Aortic Diseases	BEFREE	29720088		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic Valve Sclerosis	BEFREE	29720088		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	26742492	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	26742492		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	26742492	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Choanal Atresia	Choanal Atresia	GENOMICS_ENGLAND_DG	26117586		★★★★★ ★☆☆☆☆ Found in Text Mining only
Choanal Atresia	Choanal Atresia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cutis Laxa	Cutis Laxa	BEFREE	29341480		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cutis Laxa	Cutis laxa	Pubtator	40524567	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cutis Laxa	Cutis Laxa	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cutis marmorata	Cutis marmorata	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dental Enamel Hypoplasia	Dental Enamel Hypoplasia	GENOMICS_ENGLAND_DG	26117586		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	35224839	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ear Diseases	Ear disease	Pubtator	40524567	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epispadias	Epispadias	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Flexion contracture - elbow	Elbow flexion contracture	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hernia, Femoral	Hernia, Femoral	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
LATERAL MENINGOCELE SYNDROME	Lateral Meningocele Syndrome	BEFREE	27044099, 29341480, 31403251		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lenz Majewski hyperostotic dwarfism	Lenz-Majewski Hyperostosis Syndrome	BEFREE	24241535, 25363158, 29341480, 31403251		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lenz Majewski hyperostotic dwarfism	Lenz-Majewski Hyperostosis Syndrome	UNIPROT_DG	24241535		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lenz Majewski hyperostotic dwarfism	Lenz-Majewski Hyperostosis Syndrome	CTD_human_DG	24241535		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lenz Majewski hyperostotic dwarfism	Lenz-Majewski Hyperostosis Syndrome	GENOMICS_ENGLAND_DG	24241535, 26117586		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lenz Majewski hyperostotic dwarfism	Lenz-Majewski Hyperostosis Syndrome	ORPHANET_DG	24241535		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lenz Majewski hyperostotic dwarfism	Lenz-Majewski Hyperostosis Syndrome	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lenz-Majewski hyperostotic dwarfism	Lenz-Majewski Hyperostosis Syndrome	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
LIMB-MAMMARY SYNDROME	Limb-Mammary Syndrome	BEFREE	27044099, 29341480, 31403251		★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrostomia	Macrostomia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microglossia	Microglossia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopetrosis	Osteopetrosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ramer Ladda syndrome	Ramer Ladda Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Relative macrocephaly	Macrocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Specific learning disability	Specific Learning Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Submucous cleft of hard palate	Submucosal cleft palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Syndactyly of fingers	Syndactyly of fingers	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

PTDSS1 (phosphatidylserine synthase 1)