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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6770
Gene name	Steroidogenic acute regulatory protein
Gene symbol	STAR
Synonyms (NCBI Gene)	STARD1
Chromosome	8
Chromosome location	8p11.23
Summary	The protein encoded by this gene plays a key role in the acute regulation of steroid hormone synthesis by enhancing the conversion of cholesterol into pregnenolone. This protein permits the cleavage of cholesterol into pregnenolone by mediating the transp

Show/Hide all (33)

SNP ID	Visualize variation	Clinical significance	Consequence
rs34908868	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs104894085	G>A	Pathogenic	Coding sequence variant, stop gained
rs104894086	C>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs104894087	C>T	Pathogenic	Coding sequence variant, stop gained
rs104894089	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs104894090	G>A	Pathogenic	Coding sequence variant, missense variant
rs137852689	C>G	Pathogenic	Missense variant, coding sequence variant
rs137852690	G>A	Pathogenic	Missense variant, coding sequence variant
rs139081695	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs193922393	A>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs369232492	G>A,C,T	Likely-pathogenic	Missense variant, coding sequence variant
rs374297649	C>G	Likely-pathogenic	Splice acceptor variant
rs387907235	G>A	Pathogenic	Coding sequence variant, stop gained
rs551783234	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs747169620	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs749626865	C>G,T	Likely-pathogenic	Splice acceptor variant
rs750549499	C>-,CC	Pathogenic	Coding sequence variant, frameshift variant
rs757367795	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs765904696	TC>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs765968701	C>A	Pathogenic	Splice donor variant
rs771895449	AG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs781281145	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1298369560	A>G	Likely-pathogenic	Splice donor variant
rs1350908961	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1417088430	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1554502663	->A	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554502668	GGCAGCCACCCCTG>-	Likely-pathogenic	Coding sequence variant, intron variant, splice acceptor variant
rs1554502725	CTGAGTAGCCACGTAAG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554502732	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554502986	T>C	Likely-pathogenic	Splice acceptor variant
rs1554503011	C>G	Likely-pathogenic	Splice donor variant
rs1563268652	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1563268785	->A	Pathogenic	Splice donor variant

261

Show/Hide all (261)

miRTarBase ID	miRNA	Experiments	Reference
MIRT518627	hsa-miR-4438	PAR-CLIP	23446348
MIRT518626	hsa-miR-6504-3p	PAR-CLIP	23446348
MIRT518625	hsa-miR-500b-3p	PAR-CLIP	23446348
MIRT518624	hsa-miR-1273g-3p	PAR-CLIP	23446348
MIRT518623	hsa-miR-3130-3p	PAR-CLIP	23446348
MIRT518622	hsa-miR-4252	PAR-CLIP	23446348
MIRT518621	hsa-miR-5095	PAR-CLIP	23446348
MIRT518620	hsa-miR-7151-3p	PAR-CLIP	23446348
MIRT518619	hsa-miR-6807-5p	PAR-CLIP	23446348
MIRT518618	hsa-miR-153-3p	PAR-CLIP	23446348
MIRT734830	hsa-miR-1-3p	Western blottingMicroarray	12344321
MIRT518627	hsa-miR-4438	PAR-CLIP	23446348
MIRT518626	hsa-miR-6504-3p	PAR-CLIP	23446348
MIRT518625	hsa-miR-500b-3p	PAR-CLIP	23446348
MIRT518624	hsa-miR-1273g-3p	PAR-CLIP	23446348
MIRT518623	hsa-miR-3130-3p	PAR-CLIP	23446348
MIRT518622	hsa-miR-4252	PAR-CLIP	23446348
MIRT518621	hsa-miR-5095	PAR-CLIP	23446348
MIRT518620	hsa-miR-7151-3p	PAR-CLIP	23446348
MIRT518619	hsa-miR-6807-5p	PAR-CLIP	23446348
MIRT518618	hsa-miR-153-3p	PAR-CLIP	23446348
MIRT1395060	hsa-miR-101	CLIP-seq
MIRT1395061	hsa-miR-106a	CLIP-seq
MIRT1395062	hsa-miR-106b	CLIP-seq
MIRT1395063	hsa-miR-1193	CLIP-seq
MIRT1395064	hsa-miR-1273f	CLIP-seq
MIRT1395065	hsa-miR-1281	CLIP-seq
MIRT1395066	hsa-miR-1289	CLIP-seq
MIRT1395067	hsa-miR-1297	CLIP-seq
MIRT1395068	hsa-miR-132	CLIP-seq
MIRT1395069	hsa-miR-1343	CLIP-seq
MIRT1395070	hsa-miR-143	CLIP-seq
MIRT1395071	hsa-miR-150	CLIP-seq
MIRT1395072	hsa-miR-17	CLIP-seq
MIRT1395073	hsa-miR-197	CLIP-seq
MIRT1395074	hsa-miR-1976	CLIP-seq
MIRT1395075	hsa-miR-20a	CLIP-seq
MIRT1395076	hsa-miR-20b	CLIP-seq
MIRT1395077	hsa-miR-212	CLIP-seq
MIRT1395078	hsa-miR-2392	CLIP-seq
MIRT1395079	hsa-miR-26a	CLIP-seq
MIRT1395080	hsa-miR-26b	CLIP-seq
MIRT1395081	hsa-miR-302a	CLIP-seq
MIRT1395082	hsa-miR-302b	CLIP-seq
MIRT1395083	hsa-miR-302c	CLIP-seq
MIRT1395084	hsa-miR-302d	CLIP-seq
MIRT1395085	hsa-miR-302e	CLIP-seq
MIRT1395086	hsa-miR-3135b	CLIP-seq
MIRT1395087	hsa-miR-3149	CLIP-seq
MIRT1395088	hsa-miR-3153	CLIP-seq
MIRT1395089	hsa-miR-3187-3p	CLIP-seq
MIRT1395090	hsa-miR-3198	CLIP-seq
MIRT1395091	hsa-miR-338-5p	CLIP-seq
MIRT1395092	hsa-miR-3664-5p	CLIP-seq
MIRT1395093	hsa-miR-372	CLIP-seq
MIRT1395094	hsa-miR-373	CLIP-seq
MIRT1395095	hsa-miR-374a	CLIP-seq
MIRT1395096	hsa-miR-374b	CLIP-seq
MIRT1395097	hsa-miR-3937	CLIP-seq
MIRT1395098	hsa-miR-411	CLIP-seq
MIRT1395099	hsa-miR-4294	CLIP-seq
MIRT1395100	hsa-miR-4309	CLIP-seq
MIRT1395101	hsa-miR-4312	CLIP-seq
MIRT1395102	hsa-miR-4435	CLIP-seq
MIRT1395103	hsa-miR-4454	CLIP-seq
MIRT1395104	hsa-miR-4465	CLIP-seq
MIRT1395105	hsa-miR-4639-3p	CLIP-seq
MIRT1395106	hsa-miR-4646-5p	CLIP-seq
MIRT1395107	hsa-miR-4663	CLIP-seq
MIRT1395108	hsa-miR-4668-5p	CLIP-seq
MIRT1395109	hsa-miR-4698	CLIP-seq
MIRT1395110	hsa-miR-4701-5p	CLIP-seq
MIRT1395111	hsa-miR-4716-5p	CLIP-seq
MIRT1395112	hsa-miR-4731-5p	CLIP-seq
MIRT1395113	hsa-miR-4735-5p	CLIP-seq
MIRT1395114	hsa-miR-4757-5p	CLIP-seq
MIRT1395115	hsa-miR-4763-5p	CLIP-seq
MIRT1395116	hsa-miR-4775	CLIP-seq
MIRT1395117	hsa-miR-4781-3p	CLIP-seq
MIRT1395118	hsa-miR-483-5p	CLIP-seq
MIRT1395119	hsa-miR-5096	CLIP-seq
MIRT1395120	hsa-miR-512-3p	CLIP-seq
MIRT1395121	hsa-miR-519d	CLIP-seq
MIRT1395122	hsa-miR-520a-3p	CLIP-seq
MIRT1395123	hsa-miR-520b	CLIP-seq
MIRT1395124	hsa-miR-520c-3p	CLIP-seq
MIRT1395125	hsa-miR-520d-3p	CLIP-seq
MIRT1395126	hsa-miR-520e	CLIP-seq
MIRT1395127	hsa-miR-520g	CLIP-seq
MIRT1395128	hsa-miR-520h	CLIP-seq
MIRT1395129	hsa-miR-548s	CLIP-seq
MIRT1395130	hsa-miR-588	CLIP-seq
MIRT1395131	hsa-miR-590-3p	CLIP-seq
MIRT1395132	hsa-miR-93	CLIP-seq
MIRT1395063	hsa-miR-1193	CLIP-seq
MIRT1395073	hsa-miR-197	CLIP-seq
MIRT1395074	hsa-miR-1976	CLIP-seq
MIRT1395078	hsa-miR-2392	CLIP-seq
MIRT1395089	hsa-miR-3187-3p	CLIP-seq
MIRT1395098	hsa-miR-411	CLIP-seq
MIRT1395102	hsa-miR-4435	CLIP-seq
MIRT1395103	hsa-miR-4454	CLIP-seq
MIRT1395110	hsa-miR-4701-5p	CLIP-seq
MIRT1395111	hsa-miR-4716-5p	CLIP-seq
MIRT1395117	hsa-miR-4781-3p	CLIP-seq
MIRT1395118	hsa-miR-483-5p	CLIP-seq
MIRT1395119	hsa-miR-5096	CLIP-seq
MIRT1395129	hsa-miR-548s	CLIP-seq
MIRT1395130	hsa-miR-588	CLIP-seq
MIRT1395063	hsa-miR-1193	CLIP-seq
MIRT1395065	hsa-miR-1281	CLIP-seq
MIRT1395067	hsa-miR-1297	CLIP-seq
MIRT1395069	hsa-miR-1343	CLIP-seq
MIRT1395073	hsa-miR-197	CLIP-seq
MIRT1395074	hsa-miR-1976	CLIP-seq
MIRT1395078	hsa-miR-2392	CLIP-seq
MIRT1395079	hsa-miR-26a	CLIP-seq
MIRT1395080	hsa-miR-26b	CLIP-seq
MIRT1395087	hsa-miR-3149	CLIP-seq
MIRT1395088	hsa-miR-3153	CLIP-seq
MIRT1395089	hsa-miR-3187-3p	CLIP-seq
MIRT1395092	hsa-miR-3664-5p	CLIP-seq
MIRT1395098	hsa-miR-411	CLIP-seq
MIRT1395102	hsa-miR-4435	CLIP-seq
MIRT1395103	hsa-miR-4454	CLIP-seq
MIRT1395104	hsa-miR-4465	CLIP-seq
MIRT1395105	hsa-miR-4639-3p	CLIP-seq
MIRT1395106	hsa-miR-4646-5p	CLIP-seq
MIRT1395108	hsa-miR-4668-5p	CLIP-seq
MIRT1395110	hsa-miR-4701-5p	CLIP-seq
MIRT1395111	hsa-miR-4716-5p	CLIP-seq
MIRT1395113	hsa-miR-4735-5p	CLIP-seq
MIRT1395116	hsa-miR-4775	CLIP-seq
MIRT1395117	hsa-miR-4781-3p	CLIP-seq
MIRT1395118	hsa-miR-483-5p	CLIP-seq
MIRT1395119	hsa-miR-5096	CLIP-seq
MIRT1395129	hsa-miR-548s	CLIP-seq
MIRT1395130	hsa-miR-588	CLIP-seq
MIRT1395131	hsa-miR-590-3p	CLIP-seq
MIRT2340603	hsa-miR-124	CLIP-seq
MIRT2340604	hsa-miR-1269	CLIP-seq
MIRT2340605	hsa-miR-1269b	CLIP-seq
MIRT1395065	hsa-miR-1281	CLIP-seq
MIRT1395067	hsa-miR-1297	CLIP-seq
MIRT2340606	hsa-miR-1299	CLIP-seq
MIRT1395069	hsa-miR-1343	CLIP-seq
MIRT1395071	hsa-miR-150	CLIP-seq
MIRT1395073	hsa-miR-197	CLIP-seq
MIRT1395079	hsa-miR-26a	CLIP-seq
MIRT1395080	hsa-miR-26b	CLIP-seq
MIRT1395086	hsa-miR-3135b	CLIP-seq
MIRT1395087	hsa-miR-3149	CLIP-seq
MIRT1395088	hsa-miR-3153	CLIP-seq
MIRT2340607	hsa-miR-3202	CLIP-seq
MIRT1395092	hsa-miR-3664-5p	CLIP-seq
MIRT1395098	hsa-miR-411	CLIP-seq
MIRT1395103	hsa-miR-4454	CLIP-seq
MIRT1395104	hsa-miR-4465	CLIP-seq
MIRT2340608	hsa-miR-4529-3p	CLIP-seq
MIRT2340609	hsa-miR-4533	CLIP-seq
MIRT1395105	hsa-miR-4639-3p	CLIP-seq
MIRT1395106	hsa-miR-4646-5p	CLIP-seq
MIRT1395108	hsa-miR-4668-5p	CLIP-seq
MIRT1395111	hsa-miR-4716-5p	CLIP-seq
MIRT1395113	hsa-miR-4735-5p	CLIP-seq
MIRT1395116	hsa-miR-4775	CLIP-seq
MIRT2340610	hsa-miR-4782-5p	CLIP-seq
MIRT1395118	hsa-miR-483-5p	CLIP-seq
MIRT2340611	hsa-miR-506	CLIP-seq
MIRT1395119	hsa-miR-5096	CLIP-seq
MIRT2340612	hsa-miR-516b	CLIP-seq
MIRT1395131	hsa-miR-590-3p	CLIP-seq
MIRT2340613	hsa-miR-875-3p	CLIP-seq
MIRT2634492	hsa-miR-1202	CLIP-seq
MIRT2634493	hsa-miR-1207-3p	CLIP-seq
MIRT2634494	hsa-miR-1225-3p	CLIP-seq
MIRT2634495	hsa-miR-1226	CLIP-seq
MIRT2634496	hsa-miR-1233	CLIP-seq
MIRT2634497	hsa-miR-1256	CLIP-seq
MIRT2634498	hsa-miR-1266	CLIP-seq
MIRT2634499	hsa-miR-1270	CLIP-seq
MIRT1395065	hsa-miR-1281	CLIP-seq
MIRT2634500	hsa-miR-1285	CLIP-seq
MIRT2634501	hsa-miR-1291	CLIP-seq
MIRT1395067	hsa-miR-1297	CLIP-seq
MIRT2634502	hsa-miR-1301	CLIP-seq
MIRT2634503	hsa-miR-145	CLIP-seq
MIRT2634504	hsa-miR-146b-3p	CLIP-seq
MIRT2634505	hsa-miR-148a	CLIP-seq
MIRT2634506	hsa-miR-148b	CLIP-seq
MIRT2634507	hsa-miR-151-3p	CLIP-seq
MIRT2634508	hsa-miR-152	CLIP-seq
MIRT2634509	hsa-miR-1825	CLIP-seq
MIRT2634510	hsa-miR-1972	CLIP-seq
MIRT1395074	hsa-miR-1976	CLIP-seq
MIRT2634511	hsa-miR-2115	CLIP-seq
MIRT1395079	hsa-miR-26a	CLIP-seq
MIRT1395080	hsa-miR-26b	CLIP-seq
MIRT2634512	hsa-miR-3177-5p	CLIP-seq
MIRT2634513	hsa-miR-3187-5p	CLIP-seq
MIRT2634514	hsa-miR-3194-5p	CLIP-seq
MIRT2634515	hsa-miR-3664-3p	CLIP-seq
MIRT2634516	hsa-miR-3944-5p	CLIP-seq
MIRT2634517	hsa-miR-3972	CLIP-seq
MIRT2634518	hsa-miR-4279	CLIP-seq
MIRT2634519	hsa-miR-4320	CLIP-seq
MIRT2634520	hsa-miR-4422	CLIP-seq
MIRT1395104	hsa-miR-4465	CLIP-seq
MIRT2634521	hsa-miR-4502	CLIP-seq
MIRT2634522	hsa-miR-4518	CLIP-seq
MIRT2634523	hsa-miR-451b	CLIP-seq
MIRT2634524	hsa-miR-4650-5p	CLIP-seq
MIRT2634525	hsa-miR-4660	CLIP-seq
MIRT2634526	hsa-miR-4683	CLIP-seq
MIRT2634527	hsa-miR-4696	CLIP-seq
MIRT2634528	hsa-miR-4712-5p	CLIP-seq
MIRT2634529	hsa-miR-4733-3p	CLIP-seq
MIRT2634530	hsa-miR-4738-5p	CLIP-seq
MIRT2634531	hsa-miR-5047	CLIP-seq
MIRT2634532	hsa-miR-526b	CLIP-seq
MIRT2634533	hsa-miR-612	CLIP-seq
MIRT2634534	hsa-miR-620	CLIP-seq
MIRT2634535	hsa-miR-770-5p	CLIP-seq
MIRT2634492	hsa-miR-1202	CLIP-seq
MIRT2634494	hsa-miR-1225-3p	CLIP-seq
MIRT2634495	hsa-miR-1226	CLIP-seq
MIRT2634496	hsa-miR-1233	CLIP-seq
MIRT2634497	hsa-miR-1256	CLIP-seq
MIRT2634498	hsa-miR-1266	CLIP-seq
MIRT2634499	hsa-miR-1270	CLIP-seq
MIRT2692189	hsa-miR-1273g	CLIP-seq
MIRT1395065	hsa-miR-1281	CLIP-seq
MIRT2634501	hsa-miR-1291	CLIP-seq
MIRT1395067	hsa-miR-1297	CLIP-seq
MIRT2634503	hsa-miR-145	CLIP-seq
MIRT2634504	hsa-miR-146b-3p	CLIP-seq
MIRT2634507	hsa-miR-151-3p	CLIP-seq
MIRT2634510	hsa-miR-1972	CLIP-seq
MIRT1395074	hsa-miR-1976	CLIP-seq
MIRT2634511	hsa-miR-2115	CLIP-seq
MIRT1395079	hsa-miR-26a	CLIP-seq
MIRT1395080	hsa-miR-26b	CLIP-seq
MIRT2634514	hsa-miR-3194-5p	CLIP-seq
MIRT2634515	hsa-miR-3664-3p	CLIP-seq
MIRT2634517	hsa-miR-3972	CLIP-seq
MIRT2634518	hsa-miR-4279	CLIP-seq
MIRT2634519	hsa-miR-4320	CLIP-seq
MIRT2634520	hsa-miR-4422	CLIP-seq
MIRT1395104	hsa-miR-4465	CLIP-seq
MIRT2634521	hsa-miR-4502	CLIP-seq
MIRT2634522	hsa-miR-4518	CLIP-seq
MIRT2634523	hsa-miR-451b	CLIP-seq
MIRT2634524	hsa-miR-4650-5p	CLIP-seq
MIRT2634526	hsa-miR-4683	CLIP-seq
MIRT2634527	hsa-miR-4696	CLIP-seq
MIRT2634528	hsa-miR-4712-5p	CLIP-seq
MIRT2634529	hsa-miR-4733-3p	CLIP-seq
MIRT2634530	hsa-miR-4738-5p	CLIP-seq
MIRT2634532	hsa-miR-526b	CLIP-seq
MIRT2634534	hsa-miR-620	CLIP-seq
MIRT2634535	hsa-miR-770-5p	CLIP-seq

Show/Hide all (18)

Transcription factor	Regulation	Reference
CEBPA	Activation	18583320
CEBPB	Activation	18583320
CEBPB	Unknown	10473624;11111087;19150388
CLOCK	Activation	17431006
CREM	Unknown	19150388;22253417
FOS	Unknown	19150388
FOXL2	Repression	21862621
GATA4	Unknown	11111087
JUN	Unknown	19150388
NR0B1	Repression	22427816
NR4A1	Unknown	20083153
NR5A1	Activation	19022561
NR5A1	Repression	22427816
NR5A1	Unknown	10919277;11111087;15129808;16439455;23530236
NR5A2	Activation	19022561
SF1	Unknown	19001523
SP1	Unknown	11111087;15129808
YY1	Unknown	22253417

Show/Hide all (21)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	25416956, 25910212, 26871637, 32296183, 32814053
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IEA
GO:0005758	Component	Mitochondrial intermembrane space	TAS
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006694	Process	Steroid biosynthetic process	IBA
GO:0006694	Process	Steroid biosynthetic process	IEA
GO:0006694	Process	Steroid biosynthetic process	TAS	7761400
GO:0006869	Process	Lipid transport	IEA
GO:0008203	Process	Cholesterol metabolic process	IEA
GO:0008211	Process	Glucocorticoid metabolic process	IEA
GO:0008289	Function	Lipid binding	IEA
GO:0015485	Function	Cholesterol binding	IBA
GO:0015485	Function	Cholesterol binding	IDA	18403318
GO:0015485	Function	Cholesterol binding	IEA
GO:0032367	Process	Intracellular cholesterol transport	IBA
GO:0050810	Process	Regulation of steroid biosynthetic process	IBA
GO:0050810	Process	Regulation of steroid biosynthetic process	IEA
GO:0070859	Process	Positive regulation of bile acid biosynthetic process	IDA	18403318
GO:0120020	Function	Cholesterol transfer activity	IEA

MIM	HGNC	e!Ensembl
600617	11359	ENSG00000147465

P49675

Protein name

Steroidogenic acute regulatory protein, mitochondrial (StAR) (START domain-containing protein 1) (StARD1)

Protein function

Plays a key role in steroid hormone synthesis by enhancing the metabolism of cholesterol into pregnenolone. Mediates the transfer of cholesterol from the outer mitochondrial membrane to the inner mitochondrial membrane where it is cleaved to pre

PDB

3P0L , 5OMA , 6T5F , 6T5H

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01852	START	76 → 281	START domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in gonads, adrenal cortex and kidney.

Sequence

MLLATFKLCAGSSYRHMRNMKGLRQQAVMAISQELNRRALGGPTPSTWINQVRRRSSLLG
SRLEETLYSDQELAYLQQGEEAMQKALGILSNQEGWKKESQQDNGDKVMSKVVPDVGKVF
RLEVVVDQPMERLYEELVERMEAMGEWNPNVKEIKVLQKIGKDTFITHELAAEAAGNLVG
PRDFVSVRCAKRRGSTCVLAGMATDFGNMPEQKGVIRAEHGPTCMVLHPLAGSPSKTKLT
WLLSIDLKGWLPKSIINQVLSQTQVDFANHLRKRLESHPASEARC

Sequence length

285

Interactions

View interactions

	KEGG		Reactome
	Ovarian steroidogenesis Aldosterone synthesis and secretion Cortisol synthesis and secretion Cushing syndrome Cholesterol metabolism		Pregnenolone biosynthesis

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 (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Congenital lipoid adrenal hyperplasia due to STAR deficency	Likely pathogenic; Pathogenic	rs2130614519, rs1171152008, rs749415045, rs765968701, rs1563267767, rs540090187, rs777876822, rs2487062211, rs2487067543, rs2487063393, rs2487063377, rs2487063127, rs2487069210, rs2487069265, rs772816005 View all (42 more)	RCV001826129 RCV005050373 RCV005040261 RCV005040253 RCV001783826 View all (56 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
STAR-related disorder	Likely pathogenic; Pathogenic	rs755823086, rs1408214109, rs765968701	RCV004731276 RCV003400180 RCV003411572	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Syndactyly-telecanthus-anogenital and renal malformations syndrome	Likely pathogenic; Pathogenic	rs104894089, rs747169620	RCV004566708 RCV004568660	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (8)

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.
CLASSIC CONGENITAL LIPOID ADRENAL HYPERPLASIA DUE TO STAR DEFICENCY	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital adrenal hyperplasia	Uncertain significance; Benign	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
ENDOMETRIAL NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL GLUCOCORTICOID DEFICIENCY	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC OVARY SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

STAR (steroidogenic acute regulatory protein)