NR5A1 (nuclear receptor subfamily 5 group A member 1)

Gene

• Entrez ID: 2516
• Gene name: Nuclear receptor subfamily 5 group A member 1
• Gene symbol: NR5A1
• Synonyms (NCBI Gene): AD4BP, ELP, FTZ1, FTZF1, POF7, SF-1, SF1, SPGF8, SRXX4, SRXY3, hSF-1
• Disease Acronyms (UniProt): POF7, SPGF8, SRXX4, SRXY3
• Chromosome: 9
• Chromosome location: 9q33.3
• Summary: The protein encoded by this gene is a transcriptional activator involved in sex determination. The encoded protein binds DNA as a monomer. Defects in this gene are a cause of XY sex reversal with or without adrenal failure as well as adrenocortical insuff

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs104894118	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs104894119	C>T	Pathogenic	Coding sequence variant, missense variant
rs104894120	A>T	Pathogenic	Coding sequence variant, missense variant
rs104894123	G>A,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs104894124	C>T	Pathogenic	Coding sequence variant, missense variant
rs104894125	C>T	Pathogenic	Coding sequence variant, missense variant
rs104894126	C>T	Pathogenic	Coding sequence variant, missense variant
rs121918654	GC>TT	Pathogenic	Coding sequence variant, missense variant
rs121918655	C>T	Pathogenic	Coding sequence variant, missense variant
rs121918656	C>T	Pathogenic	Initiator codon variant, missense variant
rs200163795	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs200749741	G>A	Pathogenic	Missense variant, coding sequence variant
rs201095702	C>T	Pathogenic	Missense variant, coding sequence variant
rs375469069	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs387906690	G>A	Pathogenic	Missense variant, coding sequence variant
rs606231205	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs606231206	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs606231207	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs606231208	CAGCTGCAG>-	Pathogenic	Inframe deletion, coding sequence variant
rs775441984	C>A,T	Pathogenic	Coding sequence variant, missense variant, stop gained
rs863224904	A>C	Pathogenic	Coding sequence variant, missense variant
rs886039769	G>A	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs1057517779	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs1064794281	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1554721033	->GCAAGCAGCTGCAGCACCAGC	Likely-pathogenic	Coding sequence variant, inframe insertion
rs1554721235	C>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs1554721883	CACAG>ACAGGTCCAGGTC	Pathogenic	Coding sequence variant, frameshift variant
rs1564146922	G>C	Likely-pathogenic	Coding sequence variant, stop gained
rs1588613754	->AGCAGGGCGGCGTTGGCCTTCTCCTGAGCGTCTTTCA	Pathogenic	Coding sequence variant, stop gained, inframe indel
rs1588618614	C>T	Likely-pathogenic	Coding sequence variant, synonymous variant
rs1588621944	GTGGGCACCGGGCACGGCCATGGGCAGTGCTGGGGCCCCAAAGTCGCCCAGTGGCCCAGCAGGTGGACCGGCGGCCAGGCCC>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1588622082	G>-	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1192973	hsa-miR-1197	CLIP-seq
MIRT1192974	hsa-miR-1207-5p	CLIP-seq
MIRT1192975	hsa-miR-1827	CLIP-seq
MIRT1192976	hsa-miR-1909	CLIP-seq
MIRT1192977	hsa-miR-1910	CLIP-seq
MIRT1192978	hsa-miR-192	CLIP-seq
MIRT1192979	hsa-miR-214	CLIP-seq
MIRT1192980	hsa-miR-215	CLIP-seq
MIRT1192981	hsa-miR-3127-3p	CLIP-seq
MIRT1192982	hsa-miR-3200-3p	CLIP-seq
MIRT1192983	hsa-miR-342-5p	CLIP-seq
MIRT1192984	hsa-miR-3612	CLIP-seq
MIRT1192985	hsa-miR-361-3p	CLIP-seq
MIRT1192986	hsa-miR-3619-5p	CLIP-seq
MIRT1192987	hsa-miR-3678-3p	CLIP-seq
MIRT1192988	hsa-miR-4258	CLIP-seq
MIRT1192989	hsa-miR-4269	CLIP-seq
MIRT1192990	hsa-miR-4323	CLIP-seq
MIRT1192991	hsa-miR-433	CLIP-seq
MIRT1192992	hsa-miR-4449	CLIP-seq
MIRT1192993	hsa-miR-4459	CLIP-seq
MIRT1192994	hsa-miR-455-3p	CLIP-seq
MIRT1192995	hsa-miR-4664-5p	CLIP-seq
MIRT1192996	hsa-miR-4690-5p	CLIP-seq
MIRT1192997	hsa-miR-4695-5p	CLIP-seq
MIRT1192998	hsa-miR-4722-5p	CLIP-seq
MIRT1192999	hsa-miR-4762-5p	CLIP-seq
MIRT1193000	hsa-miR-4763-3p	CLIP-seq
MIRT1193001	hsa-miR-577	CLIP-seq
MIRT1193002	hsa-miR-634	CLIP-seq
MIRT1193003	hsa-miR-650	CLIP-seq
MIRT1193004	hsa-miR-761	CLIP-seq
MIRT1193005	hsa-miR-940	CLIP-seq
MIRT1192985	hsa-miR-361-3p	CLIP-seq
MIRT1192988	hsa-miR-4258	CLIP-seq
MIRT2056027	hsa-miR-4260	CLIP-seq
MIRT1192992	hsa-miR-4449	CLIP-seq
MIRT2056028	hsa-miR-4707-5p	CLIP-seq
MIRT2056029	hsa-miR-4727-3p	CLIP-seq
MIRT739522	hsa-miR-4768-3p	CLIP-seq
MIRT2284682	hsa-miR-4474-3p	CLIP-seq
MIRT739522	hsa-miR-4768-3p	CLIP-seq
MIRT2284683	hsa-miR-604	CLIP-seq
MIRT2284684	hsa-miR-644	CLIP-seq
MIRT2284685	hsa-miR-647	CLIP-seq
MIRT2284686	hsa-miR-658	CLIP-seq
MIRT739523	hsa-miR-665	CLIP-seq
MIRT2391728	hsa-miR-377	CLIP-seq
MIRT2284682	hsa-miR-4474-3p	CLIP-seq
MIRT2284683	hsa-miR-604	CLIP-seq
MIRT2284684	hsa-miR-644	CLIP-seq
MIRT2284685	hsa-miR-647	CLIP-seq
MIRT2284686	hsa-miR-658	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
NR0B1	Repression	11990799
SOX9	Activation	11875113
SOX9	Unknown	24591553
SP1	Unknown	9013759
USF2	Unknown	18165439
WT1	Unknown	12130543

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA	23610160
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	21873635
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISS
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IDA	21412441
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001553	Process	Luteinization	IEA
GO:0003677	Function	DNA binding	IDA	10567391
GO:0003682	Function	Chromatin binding	ISS
GO:0004879	Function	Nuclear receptor activity	IDA	8205615, 23610160
GO:0005515	Function	Protein binding	IPI	10567391, 14701856, 16709599, 17664281, 21220346, 22927646, 23610160, 25416956, 25910212, 32296183
GO:0005543	Function	Phospholipid binding	IDA	17664281
GO:0005634	Component	Nucleus	IDA	10567391, 10848616, 17664281
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005829	Component	Cytosol	IDA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0006367	Process	Transcription initiation from RNA polymerase II promoter	TAS
GO:0007530	Process	Sex determination	IMP	24405868, 27378692, 27490115, 27610946, 27855412
GO:0007538	Process	Primary sex determination	TAS	9590178
GO:0008270	Function	Zinc ion binding	IEA
GO:0008584	Process	Male gonad development	IMP	10369247, 27378692
GO:0008585	Process	Female gonad development	IMP	27378692
GO:0009755	Process	Hormone-mediated signaling pathway	IBA	21873635
GO:0009888	Process	Tissue development	IBA	21873635
GO:0010259	Process	Multicellular organism aging	IEA
GO:0010628	Process	Positive regulation of gene expression	IDA	27378692
GO:0010628	Process	Positive regulation of gene expression	IMP	23610160
GO:0019899	Function	Enzyme binding	IPI	17664281
GO:0030154	Process	Cell differentiation	IEA
GO:0030238	Process	Male sex determination	IMP	10369247
GO:0030325	Process	Adrenal gland development	IEA
GO:0030522	Process	Intracellular receptor signaling pathway	IEA
GO:0042445	Process	Hormone metabolic process	IEA
GO:0043565	Function	Sequence-specific DNA binding	IDA	27378692
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IGI	23610160
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	17664281
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0050810	Process	Regulation of steroid biosynthetic process	TAS	10567391
GO:0051457	Process	Maintenance of protein location in nucleus	IEA
GO:0090575	Component	RNA polymerase II transcription regulator complex	IBA	21873635
GO:0090575	Component	RNA polymerase II transcription regulator complex	ISS
GO:0097210	Process	Response to gonadotropin-releasing hormone	IEA
GO:0097720	Process	Calcineurin-mediated signaling	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:2000020	Process	Positive regulation of male gonad development	IDA	21412441
GO:2000195	Process	Negative regulation of female gonad development	IEA

Other IDs

• MIM: 184757
• HGNC: 7983
• e!Ensembl: ENSG00000136931

Protein

• UniProt ID: Q13285
• Protein name: Steroidogenic factor 1 (SF-1) (STF-1) (hSF-1) (Adrenal 4-binding protein) (Fushi tarazu factor homolog 1) (Nuclear receptor subfamily 5 group A member 1) (Steroid hormone receptor Ad4BP)
• Protein function: Transcriptional activator. Essential for sexual differentiation and formation of the primary steroidogenic tissues (PubMed:27378692). Binds to the Ad4 site found in the promoter region of steroidogenic P450 genes such as CYP11A, CYP11B and CYP21
• PDB: 1YOW, 1ZDT, 4QJR, 4QK4, 7KHT, 8DAF
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00105	zf-C4	11 → 80	Zinc finger, C4 type (two domains)	Domain
  PF00104	Hormone_recep	250 → 442	Ligand-binding domain of nuclear hormone receptor	Domain

• Tissue specificity: TISSUE SPECIFICITY: High expressed in the adrenal cortex, the ovary, the testis, and the spleen (PubMed:9177385). {ECO:0000269|PubMed:9177385}.
• Sequence:

  MDYSYDEDLDELCPVCGDKVSGYHYGLLTCESCKGFFKRTVQNNKHYTCTESQSCKIDKT
  QRKRCPFCRFQKCLTVGMRLEAVRADRMRGGRNKFGPMYKRDRALKQQKKAQIRANGFKL
  ETGPPMGVPPPPPPAPDYVLPPSLHGPEPKGLAAGPPAGPLGDFGAPALPMAVPGAHGPL
  AGYLYPAFPGRAIKSEYPEPYASPPQPGLPYGYPEPFSGGPNVPELILQLLQLEPDEDQV
  RARILGCLQEPTKSRPDQPAAFGLLCRMADQTFISIVDWARRCMVFKELEVADQMTLLQN
  CWSELLVFDHIYRQVQHGKEGSILLVTGQEVELTTVATQAGSLLHSLVLRAQELVLQLLA
  LQLDRQEFVCLKFIILFSLDLKFLNNHILVKDAQEKANAALLDYTLCHYPHCGDKFQQLL
  LCLVEVRALSMQAKEYLYHKHLGNEMPRNNLLIEMLQAKQT

• Sequence length: 461

Pathways

KEGG:

Cortisol synthesis and secretion
Cushing syndrome

Reactome:

Nuclear Receptor transcription pathway
SUMOylation of intracellular receptors
Transcriptional regulation of pluripotent stem cells

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
46, xx gonadal sex reversal	46,XX SEX REVERSAL 4, 46,XX testicular disorder of sex development, 46, XX Testicular Disorders of Sex Development	rs104894119	27610946, 27490115, 27855412, 27378692
46, xy disorder of sex development	46, XY Disorders of Sex Development	rs387906750, rs797044460, rs387906751, rs13222
46, xy partial gonadal dysgenesis	46,XY partial gonadal dysgenesis	rs193922688	25580123
46, xy sex reversal	46,XY Sex Reversal 3	rs111033589, rs1592184934, rs121908255, rs121908256, rs606231178, rs104894956, rs104894957, rs104894958, rs104894959, rs104894964, rs606231179, rs104894966, rs104894967, rs104894968, rs104894969, rs104894965, rs104894970, rs104894974, rs104894975, rs104894976, rs104894977, rs104894971, rs104894972, rs104894973, rs121918654, rs104894119, rs104894123, rs606231205, rs104894124, rs104894125, rs104894126, rs104894120, rs606231206, rs121918655, rs121918656, rs606231207, rs1131692053, rs387906788, rs606231252, rs200834568, rs863224904, rs775441984, rs867798393, rs886041049, rs1057517779, rs1057519638, rs1057519627, rs1131692186, rs1554721235, rs1554721883, rs1554034036, rs1556370556, rs1556370576, rs1556370548, rs1556370558, rs1565573786, rs1565572949, rs1480612338, rs1579750361, rs375469069, rs1603308308, rs1588618614, rs1588621944, rs1585684790, rs1954619788, rs1384892917, rs1954336272, rs1954346640, rs1954336215	17200175, 22907560, 26303087, 25383892, 17694559, 28459839, 27378692, 22951804, 23154282, 11932325, 27490115, 28032338, 24405868, 10369247, 27169744, 22028768, 25122490
Adrenal insufficiency	ADRENAL INSUFFICIENCY, NR5A1-RELATED	rs104894118, rs104894119
Azoospermia	Azoospermia	rs200969445, rs144567652, rs765353898
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Hypogonadotropic hypogonadism	Hypogonadotropic hypogonadism	rs104894702, rs104893836, rs104893837, rs104893842, rs121909628, rs138249161, rs1601946139
Male infertility	Male infertility with azoospermia or oligozoospermia due to single gene mutation	rs554675432, rs9332971, rs397507505, rs797045116, rs748618094, rs781431741, rs1555979575, rs377581367
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Nephroblastoma	Nephroblastoma	rs1553551874, rs1555913934, rs769116796
Nephrotic syndrome	Nephrotic Syndrome	rs876657369, rs121912601, rs121912602, rs876657370, rs121912603, rs121912604, rs121912605, rs121907900, rs121907901, rs28941778, rs587776576, rs28942089, rs587776577, rs28941777, rs121907910, rs1568296260, rs119473033, rs74315342, rs74315343, rs74315345, rs74315346, rs74315347, rs74315348, rs121434394, rs267606919, rs121912488, rs267606953, rs267606954, rs267606955, rs104886210, rs1591732280, rs1591750243, rs140511594, rs140781106, rs147972030, rs587776969, rs386833863, rs386833880, rs386833882, rs386833892, rs386833895, rs386833909, rs386833911, rs386833920, rs386833935, rs386833947, rs1555763603, rs398122978, rs398122979, rs398122980, rs369573693, rs398122981, rs398122982, rs398122983, rs200482683, rs730882194, rs180177201, rs587777552, rs587777553, rs775170915, rs749740335, rs12568913, rs530318579, rs786204583, rs786204708, rs786204632, rs138656762, rs797044992, rs797044994, rs797044995, rs864321632, rs864321687, rs864321688, rs864321633, rs869025495, rs869025541, rs869312747, rs145473779, rs757674160, rs869320695, rs138909849, rs869312984, rs1057516900, rs763818901, rs199506378, rs1057517164, rs1057516523, rs1057516414, rs778055996, rs1057516395, rs1057516747, rs1057516880, rs1057516680, rs778217926, rs1057519347, rs764587648, rs1060499703, rs121907903, rs769259446, rs1131692252, rs1131692253, rs1131692254, rs1131692255, rs1131692256, rs746887949, rs1131692235, rs1135402911, rs1135402912, rs1135402913, rs1554946480, rs1555331969, rs773173317, rs1555816634, rs775006954, rs1320543506, rs534522842, rs1272948499, rs1191455921, rs1291398331, rs1554939785, rs776016942, rs1031744496, rs748812981, rs755972674, rs1553312833, rs967339926, rs1462028977, rs1212702104, rs1167223941, rs762631237, rs1553316575, rs1553315173, rs1553316648, rs1553316611, rs780761368, rs368572297, rs1568070817, rs1321552081, rs1558108130, rs1558091788, rs1565707103, rs1558355124, rs1564622701, rs1351580598, rs1589475328, rs1589413498, rs1572255744, rs1572262824, rs761410195, rs1602413491, rs1590326226, rs375998390, rs570583897, rs369363545, rs201488687, rs1334894971, rs763782471, rs138047529, rs895782232, rs1572255047, rs1589433172, rs1589509476, rs1572277600, rs1572282458, rs1584675898, rs759043857, rs1853443391
Non-obstructive azoospermia	Non-obstructive azoospermia	rs587777872, rs879253743, rs1600840291, rs1600877766, rs753462162, rs1588618614, rs1602684496, rs377712900
Obstructive azoospermia	Obstructive azoospermia	rs121909016, rs121908805, rs144055758, rs397508761
Osteoporosis	Osteoporosis	rs72658152, rs72667023, rs587776916, rs72656370, rs768615287
Ovarian cancer	Malignant neoplasm of ovary	rs34424986, rs137853060, rs28934575, rs79658334, rs121913021, rs62625308, rs80356898, rs80357579, rs41293497, rs80356904, rs80357471, rs80357522, rs80357234, rs80357912, rs80357828, rs80357208, rs55770810, rs80358165, rs80358010, rs587780226, rs536907995, rs139414606, rs371638537, rs574552037, rs730881647, rs747993448, rs786202125, rs786202962, rs121913321, rs189261858, rs869320800, rs753023295, rs779466229, rs752411477, rs80357438, rs191486604, rs760874290, rs752780954, rs760782298, rs1555591361, rs1555578360, rs1555588460, rs1555587401, rs747427602, rs112675807, rs80357393	23291911
Premature ovarian failure	PREMATURE OVARIAN FAILURE 7 (disorder), Hypergonadotropic Ovarian Failure, X-Linked, Premature Ovarian Failure 1	rs587776535, rs71647804, rs137853320, rs606231206, rs121918655, rs121918656, rs606231207, rs606231208, rs80359775, rs397507719, rs200503569, rs587777267, rs730880018, rs587777268, rs587777269, rs587777270, rs201840174, rs587778428, rs41293513, rs200928781, rs587777871, rs587777872, rs606231343, rs672601359, rs193303102, rs193303103, rs193303104, rs138761187, rs869320753, rs869320765, rs878854403, rs875989810, rs875989885, rs876657679, rs1057517779, rs764841861, rs1057519602, rs147021911, rs1060505055, rs376787666, rs1554721235, rs1553752779, rs1553752894, rs144567652, rs1216260561, rs900140738, rs1560311010, rs1060502376, rs1001164504, rs1031011371, rs1596591051, rs1218620893, rs201115244, rs377712900, rs1800917478	11038323, 19246354, 22951804, 26523528, 26303087
Pulmonary fibrosis	Pulmonary Fibrosis	rs121918666, rs199422300, rs121917834, rs199422294, rs201159197, rs199422297, rs199422305, rs751381953, rs876661305, rs878853260, rs1555811762, rs1060502990, rs1555903332, rs1554038539, rs1554042899, rs938938578
Spermatogenic failure	SPERMATOGENIC FAILURE 8	rs193929390, rs193929391, rs587776620, rs769825641, rs80034486, rs778145751, rs387906690, rs201095702, rs312262776, rs140210148, rs142371860, rs538539239, rs147579680, rs587777205, rs751879424, rs587777206, rs868256749, rs587777427, rs587777432, rs864309485, rs797045116, rs774225566, rs756459525, rs754130052, rs886041023, rs781693813, rs886041024, rs886041025, rs757326350, rs1131692234, rs1131692250, rs1131692251, rs779490893, rs373911488, rs768831533, rs1131692266, rs376788209, rs780798708, rs1555568575, rs1555472691, rs368728266, rs746049858, rs1554861288, rs1554862953, rs753300178, rs760609580, rs1554882484, rs147356105, rs1553756374, rs762760856, rs866096259, rs1262272674, rs1553756824, rs1554359685, rs1554359569, rs1554492164, rs1554491783, rs763654373, rs1553482689, rs116298211, rs766707325, rs144567652, rs768006618, rs1555365959, rs1555363275, rs577163578, rs765353898, rs777263062, rs140352254, rs1567621034, rs759646845, rs376903331, rs1559024613, rs1559034750, rs773975635, rs1559025141, rs1161498711, rs751680143, rs1567790522, rs777214459, rs772371753, rs759127010, rs764048407, rs1355278372, rs1559674534, rs780431020, rs750057655, rs1559708295, rs148431487, rs761592042, rs759727960, rs1031011371, rs1598595659, rs767723684, rs1598525781, rs1269179049, rs756973049, rs1574628422, rs1457312523, rs1589391313, rs1579486914, rs766352190, rs763399136, rs1489738488, rs1579951018, rs1579787268, rs1391102782, rs1375975527, rs1230916222, rs1580704451, rs1580383744, rs1580783651, rs1580529760, rs769554360, rs147597066, rs753831132, rs377712900, rs1677697539, rs2083311058	26303087, 22951804, 20887963

Unknown
Disease term	Disease name	Evidence	References	Source
Ambiguous genitalia	Ambiguous Genitalia			ClinVar
Endometriosis	Endometriosis		17519303	ClinVar
Gonadal Dysgenesis	46 XX gonadal dysgenesis			GenCC
46, XX Gonadal Sex Reversal	46,XX sex reversal 1, 46,XX sex reversal 4			GenCC
Premature Ovarian Failure	premature ovarian failure 7			GenCC
46, XY complete gonadal dysgenesis	46,XY complete gonadal dysgenesis			GenCC
46, XX ovotesticular disorder of sex development	46,XX ovotesticular disorder of sex development			GenCC
46, XY partial gonadal dysgenesis	46,XY partial gonadal dysgenesis			GenCC
46, XY Sex Reversal	46,XY sex reversal 3			GenCC
Spermatogenic Failure	spermatogenic failure 8			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
46 XX Disorders of Sex Development	Associate	23918653, 27490115, 27855412, 30350900, 35222615
46 XX Testicular Disorders of Sex Development	Associate	23918653, 26492835, 27378692, 27490115
46 XY female	Associate	21654157, 25502990, 27553487, 34112222
Acne Vulgaris	Associate	12787114
Acromegaly	Associate	36497102
Addison Disease	Associate	11038323, 23299922, 25989977
Adrenal Cortex Neoplasms	Associate	23158211
Adrenal Gland Diseases	Associate	24056159, 37432935
Adrenal Gland Neoplasms	Associate	18984668, 39623453
Adrenal Insufficiency	Associate	11038323, 19318730, 21654157, 22100173, 23096908, 25122490
Adrenocortical Carcinoma	Associate	19318454, 23158211, 23907384, 26772981, 28658440, 28911143, 36308186, 38155952, 40190189
Allanson Pantzar McLeod syndrome	Associate	21163476, 27378692, 35222615, 37409232
Alopecia	Associate	12787114
Amenorrhea	Associate	20302644, 29935645
Androgen Insensitivity Syndrome	Associate	22909003, 27821113
Anorchia	Associate	17940071, 22909003, 23299922, 27553487, 28459839
Azoospermia	Associate	33728612, 39623453
Bohring syndrome	Associate	35432193
Brain Stem Neoplasms	Stimulate	40190189
Calloso genital dysplasia	Associate	27378692
Carcinogenesis	Associate	9786908
Carcinoma Hepatocellular	Associate	26772981
Carcinoma Ovarian Epithelial	Associate	26576867
Choristoma	Associate	19930843
Cryptorchidism	Associate	16500365, 19439508, 25989977, 27899089, 37432935, 39623453
Developmental Disabilities	Associate	24056159
Disease	Associate	37288707
Disorder of Sex Development 46 XY	Associate	11038323, 17694559, 19318730, 19439508, 20887963, 21163476, 21412441, 21654157, 22474171, 22909003, 23299922, 23918653, 24056159, 24405868, 25122490, 27490115, 27855412, 28459839, 29891883, 29935645, 31938931, 32985417, 33202802, 34112222, 34338568, 34461970, 34613524, 35546286, 37072715, 37147882, 37432935, 39285472
Disorders of Sex Development	Associate	19318730, 19439508, 21412441, 21654157, 22100173, 22474171, 22549935, 22909003, 23918653, 24056159, 25122490, 27490115, 27855412, 28459839, 29027299, 29891883, 29935645, 30350900, 31938931, 33202802, 34112222, 34461970, 34613524, 35051551, 35222615, 35432193, 35546286, 36743925, 37409232, 37413951, 39337600, 39623453
Endocrine System Diseases	Associate	37072715
Endometriosis	Associate	18165439, 19001523, 19930843, 21926385, 30576245, 36650372
Epilepsy Partial with Variable Foci	Associate	21324456
Facial Dysmorphism with Multiple Malformations	Associate	24056159
Fever	Associate	24113592
Gonadal Disorders	Associate	24056159
Gonadal Dysgenesis	Associate	17694559, 19318730, 21163476, 21654157, 22474171, 24056159, 25502990, 27821113, 27855412, 28459839, 33101191, 36114074
Gonadal Dysgenesis 46 XY	Associate	24056159, 25383892, 25989977, 40290305
Hirsutism	Associate	11297612, 12787114
Hypoadrenocorticism Familial	Associate	16684822
Hypospadias	Associate	19439508, 21654157, 22909003, 23299922, 23918653, 25502990, 37409232, 37432935
Hypothyroidism Congenital Nongoitrous 2	Stimulate	19930843
Idiopathic Hypogonadotropic Hypogonadism	Associate	23096908
Infertility	Associate	28459839, 36114074
Infertility Male	Associate	20887963, 25989977, 27378692
Intervertebral Disc Degeneration	Associate	36267810
Leukoencephalopathies	Associate	17940071
Leydig Cell Tumor	Associate	36881770
Lipoid congenital adrenal hyperplasia	Associate	22549935
Male Infertility with Large Headed Multiflagellar Polyploid Spermatozoa	Associate	20887963, 23299922, 38614076
Malformations of Cortical Development	Stimulate	40190189
Mitochondrial Diseases	Associate	36267810
Mouth Diseases	Stimulate	30576245
Myopathies Structural Congenital	Associate	29935645
Neoplasms	Associate	35260162, 35304356, 36308186, 36497102, 36881092, 37406360, 38155952
Neuroendocrine Tumors	Associate	37074863
Oligospermia	Associate	32655042, 37409232
Ovarian Neoplasms	Associate	22549935, 23291911, 26576867, 28624161
Ovotesticular Disorders of Sex Development	Associate	27855412, 30350900
Pathological Conditions Anatomical	Associate	39623453
Penis agenesis	Associate	16127213, 17940071, 23299922, 39623453
Persistent Mullerian duct syndrome	Associate	31238341
Pituitary Neoplasms	Associate	28284009, 33168897, 33261069
Primary Ovarian Insufficiency	Associate	20887963, 22100173, 22549935, 23299922, 23918653, 27378692, 27490115, 35456418
Prostatic Neoplasms	Associate	24113592
Prostatic Neoplasms Castration Resistant	Associate	24265454
Renal Insufficiency	Associate	11038323, 16684822, 19318730, 24405868, 29891883
Sertoli Cell Only Syndrome	Associate	37296437
Sertoli Cell Tumor	Associate	21163476
Severe Acute Respiratory Syndrome	Associate	16127213, 23299922
Sex Chromosome Disorders of Sex Development	Associate	24056159, 30350900
Spermatogenic Failure Nonobstructive Y Linked	Associate	25989977
Splenic Infarction	Associate	39623453
Spondyloepiphyseal Dysplasia Tarda Autosomal Recessive	Associate	20498720
Testicular Diseases	Associate	33728612
Testicular Neoplasms	Associate	21654157, 22301800, 35546286
Triple Negative Breast Neoplasms	Associate	33203722
Virilism	Associate	16684822