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	6309
Gene name	Sterol-C5-desaturase
Gene symbol	SC5D
Synonyms (NCBI Gene)	ERG3S5DESSC5DL
Chromosome	11
Chromosome location	11q23.3-q24.1
Summary	This gene encodes an enzyme of cholesterol biosynthesis. The encoded protein catalyzes the conversion of lathosterol into 7-dehydrocholesterol. Mutations in this gene have been associated with lathosterolosis. Alternatively spliced transcript variants enc

Show/Hide all (4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs104894295	G>A	Pathogenic	Missense variant, coding sequence variant
rs104894296	G>A	Pathogenic	Missense variant, coding sequence variant
rs104894297	A>C,G	Pathogenic	Missense variant, coding sequence variant
rs1313359281	C>T	Pathogenic	Stop gained, coding sequence variant

198

Show/Hide all (198)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018994	hsa-miR-335-5p	Microarray	18185580
MIRT023105	hsa-miR-124-3p	Microarray	18668037
MIRT052122	hsa-let-7b-5p	CLASH	23622248
MIRT038773	hsa-miR-93-3p	CLASH	23622248
MIRT637867	hsa-miR-508-5p	HITS-CLIP	23824327
MIRT637866	hsa-miR-6501-3p	HITS-CLIP	23824327
MIRT637865	hsa-miR-1273g-3p	HITS-CLIP	23824327
MIRT637864	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT637863	hsa-miR-6852-5p	HITS-CLIP	23824327
MIRT637862	hsa-miR-766-3p	HITS-CLIP	23824327
MIRT637861	hsa-miR-4793-3p	HITS-CLIP	23824327
MIRT637860	hsa-miR-4252	HITS-CLIP	23824327
MIRT637859	hsa-miR-661	HITS-CLIP	23824327
MIRT637858	hsa-miR-196a-3p	HITS-CLIP	23824327
MIRT637857	hsa-miR-486-3p	HITS-CLIP	23824327
MIRT637856	hsa-miR-6512-3p	HITS-CLIP	23824327
MIRT637855	hsa-miR-6720-5p	HITS-CLIP	23824327
MIRT637854	hsa-miR-7703	HITS-CLIP	23824327
MIRT129442	hsa-miR-3606-3p	HITS-CLIP	23824327
MIRT129424	hsa-miR-513a-3p	HITS-CLIP	23824327
MIRT129436	hsa-miR-513c-3p	HITS-CLIP	23824327
MIRT649521	hsa-miR-6780b-3p	HITS-CLIP	23824327
MIRT649520	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT649519	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT649518	hsa-miR-511-5p	HITS-CLIP	23824327
MIRT649517	hsa-miR-3679-3p	HITS-CLIP	23824327
MIRT649516	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT649515	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT649514	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT637867	hsa-miR-508-5p	HITS-CLIP	23824327
MIRT637866	hsa-miR-6501-3p	HITS-CLIP	23824327
MIRT637865	hsa-miR-1273g-3p	HITS-CLIP	23824327
MIRT637864	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT637863	hsa-miR-6852-5p	HITS-CLIP	23824327
MIRT637862	hsa-miR-766-3p	HITS-CLIP	23824327
MIRT637861	hsa-miR-4793-3p	HITS-CLIP	23824327
MIRT637860	hsa-miR-4252	HITS-CLIP	23824327
MIRT637859	hsa-miR-661	HITS-CLIP	23824327
MIRT637858	hsa-miR-196a-3p	HITS-CLIP	23824327
MIRT637857	hsa-miR-486-3p	HITS-CLIP	23824327
MIRT637856	hsa-miR-6512-3p	HITS-CLIP	23824327
MIRT637855	hsa-miR-6720-5p	HITS-CLIP	23824327
MIRT637854	hsa-miR-7703	HITS-CLIP	23824327
MIRT058387	hsa-miR-583	PAR-CLIP	20371350
MIRT545453	hsa-miR-495-3p	PAR-CLIP	20371350
MIRT545452	hsa-miR-5688	PAR-CLIP	20371350
MIRT545451	hsa-miR-7-1-3p	PAR-CLIP	20371350
MIRT545450	hsa-miR-7-2-3p	PAR-CLIP	20371350
MIRT058389	hsa-miR-3125	PAR-CLIP	20371350
MIRT058390	hsa-miR-3916	PAR-CLIP	20371350
MIRT058394	hsa-miR-6859-5p	PAR-CLIP	20371350
MIRT545449	hsa-miR-6854-5p	PAR-CLIP	20371350
MIRT373309	hsa-miR-7705	PAR-CLIP	20371350
MIRT058386	hsa-miR-410-3p	PAR-CLIP	20371350
MIRT545448	hsa-miR-4317	PAR-CLIP	20371350
MIRT058395	hsa-miR-7156-3p	PAR-CLIP	20371350
MIRT545447	hsa-miR-1301-3p	PAR-CLIP	20371350
MIRT545446	hsa-miR-5047	PAR-CLIP	20371350
MIRT058387	hsa-miR-583	PAR-CLIP	20371350
MIRT545453	hsa-miR-495-3p	PAR-CLIP	20371350
MIRT545452	hsa-miR-5688	PAR-CLIP	20371350
MIRT545451	hsa-miR-7-1-3p	PAR-CLIP	20371350
MIRT545450	hsa-miR-7-2-3p	PAR-CLIP	20371350
MIRT058389	hsa-miR-3125	PAR-CLIP	20371350
MIRT058390	hsa-miR-3916	PAR-CLIP	20371350
MIRT058394	hsa-miR-6859-5p	PAR-CLIP	20371350
MIRT545449	hsa-miR-6854-5p	PAR-CLIP	20371350
MIRT373309	hsa-miR-7705	PAR-CLIP	20371350
MIRT058386	hsa-miR-410-3p	PAR-CLIP	20371350
MIRT545448	hsa-miR-4317	PAR-CLIP	20371350
MIRT058395	hsa-miR-7156-3p	PAR-CLIP	20371350
MIRT545447	hsa-miR-1301-3p	PAR-CLIP	20371350
MIRT545446	hsa-miR-5047	PAR-CLIP	20371350
MIRT058387	hsa-miR-583	PAR-CLIP	21572407
MIRT545453	hsa-miR-495-3p	PAR-CLIP	21572407
MIRT545452	hsa-miR-5688	PAR-CLIP	21572407
MIRT545451	hsa-miR-7-1-3p	PAR-CLIP	21572407
MIRT545450	hsa-miR-7-2-3p	PAR-CLIP	21572407
MIRT545449	hsa-miR-6854-5p	PAR-CLIP	21572407
MIRT373309	hsa-miR-7705	PAR-CLIP	21572407
MIRT058386	hsa-miR-410-3p	PAR-CLIP	21572407
MIRT545448	hsa-miR-4317	PAR-CLIP	21572407
MIRT058395	hsa-miR-7156-3p	PAR-CLIP	21572407
MIRT545447	hsa-miR-1301-3p	PAR-CLIP	21572407
MIRT545446	hsa-miR-5047	PAR-CLIP	21572407
MIRT058387	hsa-miR-583	PAR-CLIP	21572407
MIRT545453	hsa-miR-495-3p	PAR-CLIP	21572407
MIRT545452	hsa-miR-5688	PAR-CLIP	21572407
MIRT545451	hsa-miR-7-1-3p	PAR-CLIP	21572407
MIRT545450	hsa-miR-7-2-3p	PAR-CLIP	21572407
MIRT058389	hsa-miR-3125	PAR-CLIP	21572407
MIRT058390	hsa-miR-3916	PAR-CLIP	21572407
MIRT058394	hsa-miR-6859-5p	PAR-CLIP	21572407
MIRT545449	hsa-miR-6854-5p	PAR-CLIP	21572407
MIRT373309	hsa-miR-7705	PAR-CLIP	21572407
MIRT058386	hsa-miR-410-3p	PAR-CLIP	21572407
MIRT545448	hsa-miR-4317	PAR-CLIP	21572407
MIRT058395	hsa-miR-7156-3p	PAR-CLIP	21572407
MIRT545447	hsa-miR-1301-3p	PAR-CLIP	21572407
MIRT545446	hsa-miR-5047	PAR-CLIP	21572407
MIRT439705	ebv-miR-BART13-3p	HITS-CLIP	22473208
MIRT439705	ebv-miR-BART13-3p	HITS-CLIP	22473208
MIRT637867	hsa-miR-508-5p	HITS-CLIP	23824327
MIRT637866	hsa-miR-6501-3p	HITS-CLIP	23824327
MIRT637865	hsa-miR-1273g-3p	HITS-CLIP	23824327
MIRT637864	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT637863	hsa-miR-6852-5p	HITS-CLIP	23824327
MIRT637862	hsa-miR-766-3p	HITS-CLIP	23824327
MIRT637861	hsa-miR-4793-3p	HITS-CLIP	23824327
MIRT637860	hsa-miR-4252	HITS-CLIP	23824327
MIRT637859	hsa-miR-661	HITS-CLIP	23824327
MIRT637858	hsa-miR-196a-3p	HITS-CLIP	23824327
MIRT637857	hsa-miR-486-3p	HITS-CLIP	23824327
MIRT637856	hsa-miR-6512-3p	HITS-CLIP	23824327
MIRT637855	hsa-miR-6720-5p	HITS-CLIP	23824327
MIRT637854	hsa-miR-7703	HITS-CLIP	23824327
MIRT129442	hsa-miR-3606-3p	HITS-CLIP	23824327
MIRT129424	hsa-miR-513a-3p	HITS-CLIP	23824327
MIRT129436	hsa-miR-513c-3p	HITS-CLIP	23824327
MIRT649521	hsa-miR-6780b-3p	HITS-CLIP	23824327
MIRT649520	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT649519	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT649518	hsa-miR-511-5p	HITS-CLIP	23824327
MIRT649517	hsa-miR-3679-3p	HITS-CLIP	23824327
MIRT649516	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT649515	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT649514	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT637867	hsa-miR-508-5p	HITS-CLIP	23824327
MIRT637866	hsa-miR-6501-3p	HITS-CLIP	23824327
MIRT637865	hsa-miR-1273g-3p	HITS-CLIP	23824327
MIRT637864	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT637863	hsa-miR-6852-5p	HITS-CLIP	23824327
MIRT637862	hsa-miR-766-3p	HITS-CLIP	23824327
MIRT637861	hsa-miR-4793-3p	HITS-CLIP	23824327
MIRT637860	hsa-miR-4252	HITS-CLIP	23824327
MIRT637859	hsa-miR-661	HITS-CLIP	23824327
MIRT637858	hsa-miR-196a-3p	HITS-CLIP	23824327
MIRT637857	hsa-miR-486-3p	HITS-CLIP	23824327
MIRT637856	hsa-miR-6512-3p	HITS-CLIP	23824327
MIRT637855	hsa-miR-6720-5p	HITS-CLIP	23824327
MIRT637854	hsa-miR-7703	HITS-CLIP	23824327
MIRT058387	hsa-miR-583	PAR-CLIP	20371350
MIRT545453	hsa-miR-495-3p	PAR-CLIP	20371350
MIRT545452	hsa-miR-5688	PAR-CLIP	20371350
MIRT545451	hsa-miR-7-1-3p	PAR-CLIP	20371350
MIRT545450	hsa-miR-7-2-3p	PAR-CLIP	20371350
MIRT058389	hsa-miR-3125	PAR-CLIP	20371350
MIRT058390	hsa-miR-3916	PAR-CLIP	20371350
MIRT058394	hsa-miR-6859-5p	PAR-CLIP	20371350
MIRT545449	hsa-miR-6854-5p	PAR-CLIP	20371350
MIRT373309	hsa-miR-7705	PAR-CLIP	20371350
MIRT058386	hsa-miR-410-3p	PAR-CLIP	20371350
MIRT545448	hsa-miR-4317	PAR-CLIP	20371350
MIRT058395	hsa-miR-7156-3p	PAR-CLIP	20371350
MIRT545447	hsa-miR-1301-3p	PAR-CLIP	20371350
MIRT545446	hsa-miR-5047	PAR-CLIP	20371350
MIRT058387	hsa-miR-583	PAR-CLIP	20371350
MIRT545453	hsa-miR-495-3p	PAR-CLIP	20371350
MIRT545452	hsa-miR-5688	PAR-CLIP	20371350
MIRT545451	hsa-miR-7-1-3p	PAR-CLIP	20371350
MIRT545450	hsa-miR-7-2-3p	PAR-CLIP	20371350
MIRT058389	hsa-miR-3125	PAR-CLIP	20371350
MIRT058390	hsa-miR-3916	PAR-CLIP	20371350
MIRT058394	hsa-miR-6859-5p	PAR-CLIP	20371350
MIRT545449	hsa-miR-6854-5p	PAR-CLIP	20371350
MIRT373309	hsa-miR-7705	PAR-CLIP	20371350
MIRT058386	hsa-miR-410-3p	PAR-CLIP	20371350
MIRT545448	hsa-miR-4317	PAR-CLIP	20371350
MIRT058395	hsa-miR-7156-3p	PAR-CLIP	20371350
MIRT545447	hsa-miR-1301-3p	PAR-CLIP	20371350
MIRT545446	hsa-miR-5047	PAR-CLIP	20371350
MIRT058387	hsa-miR-583	PAR-CLIP	21572407
MIRT545453	hsa-miR-495-3p	PAR-CLIP	21572407
MIRT545452	hsa-miR-5688	PAR-CLIP	21572407
MIRT545451	hsa-miR-7-1-3p	PAR-CLIP	21572407
MIRT545450	hsa-miR-7-2-3p	PAR-CLIP	21572407
MIRT545449	hsa-miR-6854-5p	PAR-CLIP	21572407
MIRT373309	hsa-miR-7705	PAR-CLIP	21572407
MIRT058386	hsa-miR-410-3p	PAR-CLIP	21572407
MIRT545448	hsa-miR-4317	PAR-CLIP	21572407
MIRT058395	hsa-miR-7156-3p	PAR-CLIP	21572407
MIRT545447	hsa-miR-1301-3p	PAR-CLIP	21572407
MIRT545446	hsa-miR-5047	PAR-CLIP	21572407
MIRT058387	hsa-miR-583	PAR-CLIP	21572407
MIRT545453	hsa-miR-495-3p	PAR-CLIP	21572407
MIRT545452	hsa-miR-5688	PAR-CLIP	21572407
MIRT545451	hsa-miR-7-1-3p	PAR-CLIP	21572407
MIRT545450	hsa-miR-7-2-3p	PAR-CLIP	21572407
MIRT058389	hsa-miR-3125	PAR-CLIP	21572407
MIRT058390	hsa-miR-3916	PAR-CLIP	21572407
MIRT058394	hsa-miR-6859-5p	PAR-CLIP	21572407
MIRT545449	hsa-miR-6854-5p	PAR-CLIP	21572407
MIRT373309	hsa-miR-7705	PAR-CLIP	21572407
MIRT058386	hsa-miR-410-3p	PAR-CLIP	21572407
MIRT545448	hsa-miR-4317	PAR-CLIP	21572407
MIRT058395	hsa-miR-7156-3p	PAR-CLIP	21572407
MIRT545447	hsa-miR-1301-3p	PAR-CLIP	21572407
MIRT545446	hsa-miR-5047	PAR-CLIP	21572407

Show/Hide all (26)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000248	Function	C-5 sterol desaturase activity	EXP	12189593, 12812989
GO:0000248	Function	C-5 sterol desaturase activity	IBA
GO:0000248	Function	C-5 sterol desaturase activity	IEA
GO:0005506	Function	Iron ion binding	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	10786622
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006694	Process	Steroid biosynthetic process	IEA
GO:0006695	Process	Cholesterol biosynthetic process	IDA	10786622
GO:0008202	Process	Steroid metabolic process	IEA
GO:0008610	Process	Lipid biosynthetic process	IEA
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0016126	Process	Sterol biosynthetic process	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0033489	Process	Cholesterol biosynthetic process via desmosterol	TAS
GO:0033490	Process	Cholesterol biosynthetic process via lathosterol	IBA
GO:0033490	Process	Cholesterol biosynthetic process via lathosterol	IDA	10786622
GO:0033490	Process	Cholesterol biosynthetic process via lathosterol	IEA
GO:0033490	Process	Cholesterol biosynthetic process via lathosterol	TAS
GO:0050046	Function	Delta7-sterol 5(6)-desaturase activity	IDA	10786622
GO:0050046	Function	Delta7-sterol 5(6)-desaturase activity	IEA
GO:0110076	Process	Negative regulation of ferroptosis	IMP	38297129, 38297130

MIM	HGNC	e!Ensembl
602286	10547	ENSG00000109929

O75845

Protein name

Lathosterol oxidase (EC 1.14.19.20) (C-5 sterol desaturase) (Delta(7)-sterol 5-desaturase) (Delta(7)-sterol C5(6)-desaturase) (Lathosterol 5-desaturase) (Sterol-C5-desaturase)

Protein function

Catalyzes the penultimate step of the biosynthesis of cholesterol, the dehydrogenation of lathosterol into 7-dehydrocholesterol (7-DHC). Cholesterol is the major sterol component in mammalian membranes and a precursor for bile acid and steroid h

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04116	FA_hydroxylase	123 → 253	Fatty acid hydroxylase superfamily	Family

Sequence

MDLVLRVADYYFFTPYVYPATWPEDDIFRQAISLLIVTNVGAYILYFFCATLSYYFVFDH
ALMKHPQFLKNQVRREIKFTVQALPWISILTVALFLLEIRGYSKLHDDLGEFPYGLFELV
VSIISFLFFTDMFIYWIHRGLHHRLVYKRLHKPHHIWKIPTPFASHAFHPIDGFLQSLPY
HIYPFIFPLHKVVYLSLYILVNIWTISIHDGDFRVPQILQPFINGSAHHTDHHMFFDYNY
GQYFTLWDRIGGSFKNPSSFEGKGPLSYVKEMTEGKRSSHSGNGCKNEKLFNGEFTKTE

Sequence length

299

Interactions

View interactions

	KEGG		Reactome
	Steroid biosynthesis Metabolic pathways		Activation of gene expression by SREBF (SREBP) Cholesterol biosynthesis via desmosterol Cholesterol biosynthesis via lathosterol

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
Lathosterolosis	Likely pathogenic; Pathogenic	rs104894295, rs104894296, rs104894297, rs760167278, rs1947971579	RCV000007779 RCV000007780 RCV000007781 RCV001171520 RCV001171521	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (9)

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.
BELL'S PALSY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR POSITIVE BREAST CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DISABILITY	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER DISEASES	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SC5D-related disorder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (45)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Arnold Chiari Malformation	Arnold-Chiari malformation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	37491786	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	28774592		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	GENOMICS_ENGLAND_DG	30097991		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar cortical atrophy	Cerebellar cortical atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital meningocele	Congenital Meningocele	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	30016551		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	30016551		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Horseshoe Kidney	Horseshoe Kidney	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	12189593		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	CTD_human_DG	12189593		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Intellectual developmental disorder	Pubtator	12189593	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	30097991		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intrahepatic Cholestasis	Intrahepatic Cholestasis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lathosterolosis	Lathosterolosis	UNIPROT_DG	12189593, 12812989		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lathosterolosis	Lathosterolosis	CTD_human_DG	12189593		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lathosterolosis	Lathosterolosis	ORPHANET_DG	12812989		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lathosterolosis	Lathosterolosis	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lathosterolosis	Lathosterolosis	BEFREE	16636072, 17853487		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lathosterolosis	Lathosterolosis	GENOMICS_ENGLAND_DG	30097991		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lathosterolosis	Lathosterolosis	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Liver Failure	Liver failure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental deficiency	Mental retardation	CTD_human_DG	12189593		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	12189593		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcornea	Microcornea	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	BEFREE	12812989		★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Postaxial foot polydactyly	Foot Polydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Profound Mental Retardation	Mental retardation	CTD_human_DG	12189593		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Smith-Lemli-Opitz Syndrome	Smith-Lemli-Opitz Syndrome	BEFREE	16636072		★★★★★ ★☆☆☆☆ Found in Text Mining only
Specific learning disability	Specific Learning Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Syndactyly of the toes	Syndactyly Of The Toes	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Talipes	Talipes	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ulnar polydactyly of fingers	Postaxial hand polydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Uranostaphyloschisis	Uranostaphyloschisis	BEFREE	12812989		★★★★★ ★☆☆☆☆ Found in Text Mining only

SC5D (sterol-C5-desaturase)