STAR (steroidogenic acute regulatory protein)

Gene

• 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

SNPs

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

miRNA

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 blotting, Microarray	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

Transcription factors

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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	25416956, 25910212, 26871637, 32296183, 32814053
GO:0005758	Component	Mitochondrial intermembrane space	IBA	21873635
GO:0005758	Component	Mitochondrial intermembrane space	TAS
GO:0005829	Component	Cytosol	IEA
GO:0006694	Process	Steroid biosynthetic process	IBA	21873635
GO:0006699	Process	Bile acid biosynthetic process	IEA
GO:0006700	Process	C21-steroid hormone biosynthetic process	TAS
GO:0006703	Process	Estrogen biosynthetic process	IEA
GO:0007420	Process	Brain development	IEA
GO:0007584	Process	Response to nutrient	IEA
GO:0008203	Process	Cholesterol metabolic process	IEA
GO:0008211	Process	Glucocorticoid metabolic process	IEA
GO:0008584	Process	Male gonad development	IEA
GO:0009635	Process	Response to herbicide	IEA
GO:0010212	Process	Response to ionizing radiation	IEA
GO:0010288	Process	Response to lead ion	IEA
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0014823	Process	Response to activity	IEA
GO:0015485	Function	Cholesterol binding	IBA	21873635
GO:0015485	Function	Cholesterol binding	IDA	18403318
GO:0016101	Process	Diterpenoid metabolic process	IEA
GO:0017143	Process	Insecticide metabolic process	IEA
GO:0018879	Process	Biphenyl metabolic process	IEA
GO:0018894	Process	Dibenzo-p-dioxin metabolic process	IEA
GO:0018958	Process	Phenol-containing compound metabolic process	IEA
GO:0018963	Process	Phthalate metabolic process	IEA
GO:0030061	Component	Mitochondrial crista	IEA
GO:0032367	Process	Intracellular cholesterol transport	IBA	21873635
GO:0032869	Process	Cellular response to insulin stimulus	IEA
GO:0035094	Process	Response to nicotine	IEA
GO:0035457	Process	Cellular response to interferon-alpha	IEA
GO:0042493	Process	Response to drug	IEA
GO:0042542	Process	Response to hydrogen peroxide	IEA
GO:0042747	Process	Circadian sleep/wake cycle, REM sleep	IEA
GO:0043005	Component	Neuron projection	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0043524	Process	Negative regulation of neuron apoptotic process	IEA
GO:0043627	Process	Response to estrogen	IEA
GO:0044321	Process	Response to leptin	IEA
GO:0044344	Process	Cellular response to fibroblast growth factor stimulus	IEA
GO:0045471	Process	Response to ethanol	IEA
GO:0048168	Process	Regulation of neuronal synaptic plasticity	IEA
GO:0050769	Process	Positive regulation of neurogenesis	IEA
GO:0050810	Process	Regulation of steroid biosynthetic process	IBA	21873635
GO:0051412	Process	Response to corticosterone	IEA
GO:0060992	Process	Response to fungicide	IEA
GO:0061370	Process	Testosterone biosynthetic process	IEA
GO:0070859	Process	Positive regulation of bile acid biosynthetic process	IDA	18403318
GO:0071222	Process	Cellular response to lipopolysaccharide	IEA
GO:0071236	Process	Cellular response to antibiotic	IEA
GO:0071276	Process	Cellular response to cadmium ion	IEA
GO:0071312	Process	Cellular response to alkaloid	IEA
GO:0071320	Process	Cellular response to cAMP	IEA
GO:0071333	Process	Cellular response to glucose stimulus	IEA
GO:0071346	Process	Cellular response to interferon-gamma	IEA
GO:0071372	Process	Cellular response to follicle-stimulating hormone stimulus	IEA
GO:0071373	Process	Cellular response to luteinizing hormone stimulus	IEA
GO:0071378	Process	Cellular response to growth hormone stimulus	IEA
GO:0071549	Process	Cellular response to dexamethasone stimulus	IEA
GO:0071560	Process	Cellular response to transforming growth factor beta stimulus	IEA
GO:0071872	Process	Cellular response to epinephrine stimulus	IEA
GO:0120009	Process	Intermembrane lipid transfer	IEA
GO:0120020	Function	Cholesterol transfer activity	IEA

Other IDs

• MIM: 600617
• HGNC: 11359
• e!Ensembl: ENSG00000147465

Protein

• UniProt ID: 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

Pathways

KEGG:

Ovarian steroidogenesis
Aldosterone synthesis and secretion
Cortisol synthesis and secretion
Cushing syndrome
Cholesterol metabolism

Reactome:

Pregnenolone biosynthesis

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Azoospermia	Azoospermia	rs200969445, rs144567652, rs765353898
Congenital adrenal hyperplasia	Congenital adrenal hyperplasia	rs104894069, rs1365173817, rs104894070, rs556794126, rs104894138, rs104894139, rs104894149, rs104894142, rs104894153, rs6471, rs7769409, rs9378251, rs201552310, rs397509367, rs6445, rs387906510, rs1474566961, rs7755898, rs72552754, rs151344503, rs151344504, rs1582299448, rs1582302625, rs72552757, rs80358217, rs80358220, rs80358221, rs121912974, rs28931607, rs72552772, rs72552771, rs28931608, rs786205875, rs121912976, rs1554299737, rs193922538, rs193922539, rs193922541, rs387907572, rs267606756, rs786204728, rs886038207, rs753774484, rs1554304513, rs1554305880, rs1429901248, rs767128094, rs367634557, rs936203749, rs1563435458, rs754609778, rs1563867837, rs776989258, rs1582298980, rs1582309414, rs1582300748, rs781805159, rs782336856, rs373613946, rs770199817, rs1582304457, rs1582304536, rs1582305275, rs182942340, rs1582307951, rs1367112998, rs1582312633, rs779791105, rs72552758, rs1447069098
Congenital hypothyroidism	Congenital Hypothyroidism	rs121909180, rs121912646, rs121912648, rs1587178555, rs530719719, rs189261858, rs567500345, rs560702757, rs374620255, rs774517670
Congenital lipoid adrenal hyperplasia	Classic congenital lipoid adrenal hyperplasia due to STAR deficency	rs104894085, rs104894086, rs1563268785, rs104894087, rs137852689, rs137852690, rs104894089, rs104894090, rs6445, rs387907235, rs193922393, rs771895449, rs374297649, rs747169620, rs551783234, rs369232492, rs765904696, rs1554502986, rs1554503011, rs1554502668, rs1554502732, rs749626865, rs1350908961, rs751759820, rs1554502663, rs1554502725, rs1417088430, rs757367795, rs781281145, rs1298369560, rs765968701, rs1563268652, rs750549499, rs139081695
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Endometrial carcinoma	Endometrial Carcinoma	rs34612342, rs587776667, rs587776701, rs63750955, rs587776706, rs121434629, rs80359605, rs121913530, rs104894365, rs79184941, rs121913478, rs63750781, rs193922343, rs267608094, rs267608077, rs587779206, rs63750439, rs63751405, rs63750741, rs63750854, rs63750909, rs587779212, rs63749874, rs267608076, rs587779220, rs63750735, rs267608082, rs587779227, rs267608068, rs63750075, rs587779232, rs267608058, rs63751127, rs63750138, rs267608065, rs63751017, rs587779246, rs63750111, rs63750563, rs267608073, rs63751407, rs63749999, rs267608042, rs63750833, rs587779255, rs587779256, rs267608078, rs267608092, rs587779263, rs267608098, rs587779267, rs63750194, rs63751327, rs63751328, rs587779284, rs63749942, rs63751058, rs267608114, rs267608118, rs63751319, rs267608128, rs1553333594, rs267608126, rs63750767, rs267608120, rs267608121, rs267608122, rs63750342, rs63749873, rs587779318, rs63750019, rs63749980, rs267608048, rs1553412283, rs146816935, rs63750855, rs63751711, rs267607789, rs587779094, rs63750224, rs267607972, rs63750084, rs587779185, rs587778617, rs398123231, rs398123232, rs398123318, rs587780021, rs63750119, rs267608064, rs587781490, rs587781558, rs587781691, rs63749821, rs587782111, rs587782326, rs587782704, rs587779264, rs587779333, rs587782712, rs587783056, rs730881825, rs730881827, rs730881829, rs730881830, rs786202193, rs587782281, rs786202848, rs786201049, rs750528093, rs786202108, rs267608083, rs786201050, rs786203924, rs587781544, rs786201084, rs1553333738, rs863224829, rs863225398, rs863225409, rs863225412, rs864622041, rs869312769, rs869312770, rs63751077, rs876661205, rs876661025, rs63749919, rs876661073, rs876661222, rs267608041, rs878853702, rs751326348, rs866260675, rs886039666, rs886044911, rs1057517552, rs1057517764, rs1057517763, rs121909224, rs1057520605, rs1060502885, rs1060502918, rs1060502932, rs587779215, rs1060502937, rs1060502886, rs1060502875, rs1060502881, rs267607939, rs1023534466, rs1064793600, rs1064795256, rs1064795591, rs1064794055, rs1064794164, rs1553414010, rs1064793671, rs1064794302, rs1064793489, rs1064794384, rs1064793781, rs1553333500, rs760190301, rs1114167719, rs1114167776, rs1114167704, rs1114167748, rs1114167731, rs753796271, rs267608055, rs1114167746, rs1114167715, rs587782706, rs1114167750, rs1114167765, rs1114167747, rs786204048, rs1114167707, rs1114167767, rs1114167717, rs1114167783, rs1553412966, rs1553333598, rs587779297, rs1554294505, rs988423880, rs1554306353, rs1553408136, rs1553333321, rs1553408388, rs63749973, rs1553412064, rs1553412120, rs1553826166, rs1553413784, rs1553331242, rs1553414519, rs1564568660, rs1558392033, rs878853704, rs765763906, rs1558663559, rs1572720704, rs63750985, rs1572727440, rs587779253, rs1580538168, rs149350323, rs374133543, rs771721952, rs201033017, rs763478027, rs1475633334, rs1580553624, rs1580553669, rs578113271, rs757194485, rs539295465, rs778610412, rs758191157, rs1580597397, rs1580033751, rs751236312, rs376667075, rs1561486630, rs1561486632, rs777054839, rs1204002507, rs766672143, rs1580091499, rs1386063673, rs1450314617, rs1580027713, rs367544716, rs1488467945, rs1580053768, rs1580553607, rs1572720794, rs1572722039, rs1572723786, rs1572725235, rs1572728112, rs1175196087, rs1572741984, rs1580540688, rs1259647122, rs1580546793, rs1234762807, rs1580556516, rs1669245178, rs1669365820, rs756190979, rs371356175, rs766997264, rs1743353294, rs1379605717, rs770330684, rs1462955256, rs1744356274, rs1480047980, rs1744149615	23200943
Glucocorticoid deficiency	Familial Glucocorticoid Deficiency Type 1, Familial glucocorticoid deficiency	rs566223651, rs80358231, rs1569025178, rs104894658, rs104894659, rs104894656, rs104894657, rs104894661, rs104894662, rs104894660, rs28940892, rs267607231, rs387907232, rs786205344, rs387907233, rs786205345, rs370273690, rs387907234, rs864309519, rs886039786, rs886039788, rs886039789, rs886039790, rs1555619377, rs1555619430, rs199950178, rs1555897462, rs1476574441, rs1555619372, rs1226345778, rs762692123, rs1555619406, rs1555619429, rs139218324, rs1208417750, rs758709668, rs1579966821	19773404
Hypertrophic cardiomyopathy	Hypertrophic Cardiomyopathy	rs63750743, rs104894655, rs121908987, rs587776643, rs28938173, rs121908989, rs121908991, rs267606977, rs267606978, rs193922384, rs121909374, rs886041030, rs886041031, rs121909375, rs121909377, rs2856655, rs587776700, rs387906397, rs104894204, rs121434470, rs104894828, rs121964855, rs121964856, rs121964858, rs74315380, rs104894724, rs104894725, rs104894727, rs104894728, rs104894729, rs104894730, rs267607127, rs2147283135, rs267607128, rs267607125, rs104894502, rs104894503, rs104894504, rs28933405, rs111033560, rs121434594, rs80338797, rs104893748, rs104894368, rs104894369, rs104894370, rs121913624, rs3218713, rs121913625, rs121913626, rs121913627, rs121913628, rs121913629, rs121913630, rs121913631, rs121913632, rs121913633, rs121913634, rs3218714, rs121913636, rs121913637, rs121913638, rs121913639, rs121913641, rs121913642, rs121913643, rs121913647, rs121913650, rs121913651, rs36211715, rs121913654, rs267606911, rs267606908, rs730880850, rs121912675, rs267606629, rs193922680, rs1600482909, rs387906898, rs199476398, rs387907079, rs199474815, rs199474703, rs199476305, rs199476306, rs199476315, rs199476316, rs199476317, rs199476321, rs199476311, rs193922649, rs36211723, rs187830361, rs193922383, rs193922386, rs193922390, rs193922697, rs387907267, rs397507520, rs727505017, rs397515888, rs397515889, rs397515891, rs397515893, rs397515894, rs397515895, rs397515896, rs397515897, rs397515903, rs397515905, rs375882485, rs397515907, rs397515910, rs397515912, rs397515916, rs397515920, rs397515925, rs397515926, rs397515931, rs397515933, rs397515934, rs397515935, rs397515937, rs397515942, rs397515943, rs397515944, rs397515947, rs397515948, rs397515952, rs397515954, rs112738974, rs111729952, rs397515960, rs397515963, rs397515965, rs397515966, rs397515970, rs397515972, rs397515973, rs397515974, rs397515975, rs397515977, rs376395543, rs397515979, rs397515982, rs397515987, rs397515990, rs397515991, rs397515992, rs397515995, rs397515997, rs397516001, rs397516005, rs113358486, rs397516006, rs397516007, rs397516008, rs397516010, rs397516013, rs397516014, rs373746463, rs397516019, rs397516020, rs397516022, rs397516023, rs397516029, rs397516031, rs397516032, rs397516035, rs397516037, rs397516038, rs397516040, rs397516042, rs397516044, rs397516047, rs397516049, rs397516052, rs397516056, rs397516057, rs397516058, rs397516059, rs397516061, rs397516067, rs397516068, rs397516070, rs397516072, rs397516073, rs397516074, rs397516076, rs397516077, rs397516080, rs201078659, rs397516082, rs397516083, rs1555122751, rs397516088, rs397516089, rs397516095, rs397516098, rs397516101, rs397516103, rs397516110, rs397516127, rs371898076, rs397516132, rs397516134, rs397516142, rs3218716, rs397516153, rs397516154, rs397516155, rs397516156, rs397516157, rs397516160, rs397516161, rs397516165, rs397516166, rs397516170, rs397516171, rs397516172, rs397516178, rs397516179, rs397516187, rs397516201, rs397516202, rs145213771, rs397516207, rs397516209, rs397516212, rs397516238, rs397516248, rs397516254, rs397516258, rs397516260, rs45516091, rs397516264, rs397516266, rs397516269, rs397516340, rs397516347, rs121917760, rs397516349, rs397516353, rs397516354, rs397516355, rs397516357, rs397516373, rs397516406, rs397516455, rs397516456, rs397516457, rs397516463, rs397516464, rs45525839, rs397516470, rs397516471, rs45578238, rs111377893, rs397516736, rs397516738, rs397516739, rs397516751, rs397516752, rs397516784, rs397517283, rs397514752, rs143697995, rs267607490, rs199472948, rs138193236, rs398123279, rs869320740, rs606231340, rs606231324, rs587779392, rs587779393, rs587782951, rs587782957, rs587782958, rs587782962, rs587782965, rs138049878, rs376897125, rs368765949, rs727504247, rs376923877, rs727504277, rs727504255, rs727504246, rs727504331, rs727503513, rs727504392, rs397516039, rs727504271, rs727504321, rs727504289, rs727504305, rs727503172, rs573821685, rs727503176, rs727503178, rs727504423, rs727503180, rs727504333, rs727503182, rs727504265, rs727503184, rs727503186, rs727503187, rs727504252, rs727504864, rs727504334, rs727503192, rs397515932, rs727504366, rs727504248, rs727504287, rs200411226, rs727503204, rs727504329, rs727504269, rs573916965, rs367947846, rs727503210, rs730880335, rs727503166, rs727504390, rs730880361, rs727504276, rs111683277, rs727503174, rs727503175, rs727504349, rs727504314, rs727504371, rs730880341, rs727504293, rs727503195, rs111437311, rs727503202, rs727503203, rs727504279, rs727505152, rs727503209, rs727503211, rs727503212, rs727503217, rs727503219, rs730880366, rs727503220, rs727504356, rs727504311, rs727503261, rs727503264, rs727504238, rs148808089, rs727503271, rs727504409, rs727503276, rs727504283, rs727503296, rs45544633, rs727503246, rs727503252, rs727503253, rs202141173, rs2754158, rs727504310, rs727503260, rs727504272, rs727504240, rs727503263, rs727504239, rs727504925, rs727504237, rs727504236, rs727505202, rs727504267, rs727503278, rs727504243, rs727504285, rs727503499, rs727503504, rs727504242, rs727504264, rs727504275, rs727503500, rs727503503, rs727503120, rs730880336, rs730880337, rs730880362, rs730880210, rs730880143, rs730880159, rs730881116, rs730881122, rs730880162, rs730880605, rs730880604, rs730880600, rs730880702, rs730880598, rs730880597, rs730880699, rs730880592, rs730880675, rs730880720, rs730880719, rs730880672, rs730880668, rs730880718, rs730880666, rs730880586, rs730880584, rs11570112, rs730880578, rs730880576, rs730880660, rs730880657, rs730880655, rs730880654, rs730880653, rs730880652, rs730880714, rs730880651, rs730880558, rs730880649, rs730880647, rs730880713, rs730880646, rs730880546, rs727503197, rs730880695, rs730880644, rs730880640, rs730880712, rs730880544, rs730880542, rs730880541, rs730880538, rs730880533, rs730880531, rs730880641, rs730880639, rs397515890, rs730880724, rs730880635, rs730880723, rs730880686, rs730880631, rs730880678, rs730880629, rs730880684, rs368121566, rs730880621, rs730880681, rs375607980, rs730880618, rs730880680, rs730880679, rs730880677, rs730880704, rs730880703, rs730880721, rs730880698, rs730880664, rs730880663, rs730880662, rs730880659, rs730880916, rs727504558, rs730880759, rs730880756, rs730880750, rs730880749, rs730880748, rs730880736, rs727504241, rs727504299, rs730880732, rs730880883, rs730880930, rs730880929, rs730880875, rs370310929, rs730880926, rs730880864, rs730880856, rs397516268, rs730880922, rs730880845, rs730880388, rs730881091, rs786204352, rs786204339, rs786204338, rs786204336, rs786204329, rs2069544, rs281865416, rs773317399, rs121913648, rs730880809, rs863224483, rs863224899, rs863224900, rs863225120, rs863225121, rs863225107, rs863225114, rs863225113, rs863225104, rs863225105, rs863225112, rs863225106, rs863225109, rs863225111, rs863225100, rs863225103, rs863225102, rs863225097, rs863225101, rs730880876, rs863225272, rs863225271, rs190228518, rs863225269, rs761507504, rs864622224, rs1057515421, rs869025470, rs869025469, rs869025461, rs869025468, rs869025460, rs869025467, rs869025466, rs869025465, rs869025464, rs869025463, rs869025459, rs869025462, rs727503512, rs876657706, rs876657705, rs876657703, rs876657702, rs727503213, rs876657884, rs878854428, rs878853831, rs878853842, rs1562999443, rs1563003848, rs1562991002, rs879255639, rs886037900, rs886037902, rs886037901, rs886038822, rs886039030, rs886039185, rs754664923, rs141019458, rs1057517766, rs1057517767, rs779650200, rs1057518030, rs1057517711, rs1057519503, rs1057520814, rs1060499673, rs1060501480, rs1060501484, rs1060501481, rs1060501478, rs1064792936, rs1060501475, rs1060501479, rs1064792935, rs1060501436, rs1060501448, rs1060501443, rs1060501452, rs1060505018, rs1060499604, rs781135153, rs1064796231, rs1064793202, rs977277400, rs1064793429, rs771929829, rs745811346, rs1114167419, rs1114167361, rs1555409659, rs1555123389, rs1131691514, rs1131692185, rs1131692058, rs1553279294, rs1555120920, rs1555121924, rs1555338319, rs1555120300, rs1555121488, rs373792537, rs1444727212, rs1555338462, rs1555120937, rs1555123629, rs794727046, rs1555123633, rs1555121172, rs1555123438, rs1555336467, rs1555338658, rs1213930919, rs1432810664, rs1555122188, rs764743402, rs974671846, rs1420159591, rs745688425, rs1555338080, rs200889953, rs1555120258, rs1298025872, rs767039057, rs1555120529, rs1555121247, rs774521272, rs1555122156, rs1555123473, rs1555123496, rs1555123597, rs1555337701, rs2856897, rs869312381, rs1555122928, rs1555123743, rs1554401581, rs1555120651, rs868819340, rs1555122053, rs730880742, rs758891557, rs1555337794, rs1555338378, rs1555338758, rs1245885836, rs1566530698, rs1566513862, rs1565629792, rs730880751, rs727504294, rs1563001548, rs1565622952, rs1565625473, rs1565626409, rs1565627536, rs1565628062, rs1565628486, rs1565631430, rs1391622163, rs1131691685, rs749007293, rs1566535491, rs1565624090, rs1565625777, rs1565631428, rs1568858210, rs1566537070, rs1565627566, rs1567864804, rs1563161306, rs1565622703, rs190765116, rs1595843598, rs1565625795, rs1565628078, rs774316050, rs1565631381, rs1565631424, rs1566531421, rs730880872, rs730880870, rs1566536418, rs1566536436, rs1565623216, rs1265248322, rs113276889, rs1562998062, rs1419032418, rs1565627615, rs1565624196, rs1595843640, rs1595846398, rs764950910, rs1600448065, rs1600462474, rs1417887060, rs1600477808, rs1600480573, rs1050997719, rs1420394583, rs1595840648, rs1595841063, rs1595843549, rs1595843758, rs1595845565, rs1595845888, rs1595846344, rs1595846475, rs1595849931, rs1595070747, rs1246272841, rs730880741, rs1173617248, rs1595085409, rs730880879, rs1299079662, rs1595848628, rs1595849603, rs1450218521, rs1571627587, rs1603037717, rs1603038411, rs1595850762, rs777702465, rs1595841736, rs1595842238, rs1595845204, rs1025692267, rs1595070689, rs1198682781, rs2095879705, rs201911056, rs727504425, rs141414377, rs1596303148, rs1595841206, rs1595844714, rs1595842632, rs1595843828, rs113709679, rs1595841552, rs1595849742, rs754529157, rs1709195189, rs1342121466, rs2095880935, rs2095883508, rs2095884984, rs2095889902, rs2095891411, rs2095898532, rs780625785, rs1892592854, rs1892948780, rs2095879167, rs1956121988, rs2095893477, rs2095894178, rs1801002279, rs1892956157
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Precocious puberty	Precocious Puberty	rs879255238, rs879255239, rs879255240, rs1264639964, rs1566764505

Unknown
Disease term	Disease name	Evidence	References	Source
Adrenal hyperplasia	congenital lipoid adrenal hyperplasia due to STAR deficency			GenCC
Schizophrenia	Schizophrenia			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Abnormalities Drug Induced	Associate	11297612
Acute Disease	Associate	27840018
Addison Disease	Associate	28637490, 33966472, 35418949
Adrenal Gland Neoplasms	Associate	24953586, 27403928
Adrenal Hyperplasia Congenital	Associate	15985476, 28637490, 31666050, 34823514
Adrenal Insufficiency	Associate	18724044, 20444910, 28538409, 28637490
Adrenocortical Adenoma	Associate	27606678
Adrenocortical Carcinoma	Associate	28695321, 38484775
Alzheimer Disease	Associate	19271249, 37142132
Alzheimer Disease	Stimulate	31902793
Androblastoma of ovary	Associate	38484775
Atherosclerosis	Associate	18945429
Azoospermia Nonobstructive	Associate	24842676
Bipolar Disorder	Associate	28752602
Breast Neoplasms	Associate	30595381, 38003678, 39199284, 39201419
COVID 19	Inhibit	34718118
Dementia	Associate	37142132
Depressive Disorder Major	Associate	28752602
Disorder of Sex Development 46 XY	Associate	28538409, 33202802
Disorders of Sex Development	Associate	33202802
Down Syndrome	Stimulate	31902793
Dyspnea	Associate	37339502
Endometriosis	Associate	18165439, 18583320, 19001523, 19930843
Familial Glucocorticoid Deficiency 1	Associate	35418949
Fetal Growth Retardation	Associate	21971485
Gliosis	Associate	31902793
Glucocorticoid Deficiency 2	Associate	19773404, 23474776, 32627004
Glucocorticoid Deficiency 3	Associate	19903795, 21951701
Gonadal Disorders	Associate	19773404
Granulosa cell tumor of the ovary	Associate	38484775
Heterochromia iridis	Associate	31666050
Hirsutism	Associate	11297612
Hypoadrenocorticism Familial	Associate	31666050
Hypotension	Associate	32627004
Hypothyroidism Congenital Nongoitrous 2	Stimulate	19930843
Inflammation	Inhibit	18945429
Leydig Cell Tumor	Associate	38484775
Lipoid congenital adrenal hyperplasia	Associate	11200945, 15985476, 18182448, 18724044, 18829024, 19773404, 20444910, 22028173, 22549935, 23748066, 24953586, 28467518, 28538409, 28637490, 32627004, 32633081, 33227378, 33966472, 8948562, 9077535, 9279522
Lung Injury	Associate	37339502
Mitochondrial Diseases	Associate	37142132
Mouth Diseases	Associate	9077535
Neoplasms	Associate	19643405, 27606678, 37284741, 38216558, 38484775
Neurotoxicity Syndromes	Associate	37142132
Obesity	Associate	28105927, 31666050
Ovarian Diseases	Associate	22355044
Personality Disorders	Associate	28105927
Pneumonia Lipid	Associate	18724044, 20444910
Polycystic Ovary Syndrome	Associate	27386819, 31276164, 36932437
Polycystic Ovary Syndrome	Stimulate	34233642
Prader Willi Syndrome	Associate	17236194
Prostatic Neoplasms	Associate	18782595
Renal cell carcinoma 1	Inhibit	11297612
Renal Insufficiency	Associate	15985476
Seminoma	Associate	38484775
Sertoli Leydig Cell Tumor	Associate	38484775
Spinal Cord Neoplasms	Associate	38484775