HPS3 (HPS3 biogenesis of lysosomal organelles complex 2 subunit 1)

Gene

• Entrez ID: 84343
• Gene name: HPS3 biogenesis of lysosomal organelles complex 2 subunit 1
• Gene symbol: HPS3
• Synonyms (NCBI Gene): BLOC2S1, SUTAL
• Chromosome: 3
• Chromosome location: 3q24
• Summary: This gene encodes a protein containing a potential clathrin-binding motif, consensus dileucine signals, and tyrosine-based sorting signals for targeting to vesicles of lysosomal lineage. The encoded protein may play a role in organelle biogenesis associat

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121908316	C>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs200079039	G>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs201227603	G>A	Pathogenic	Splice donor variant
rs281865093	T>G	Pathogenic	Splice donor variant
rs748883997	G>-	Pathogenic	Intron variant, coding sequence variant, non coding transcript variant, frameshift variant
rs750685598	GA>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs753185316	C>G	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs755083879	C>G	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs778152054	GT>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs780183200	G>A	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1488175163	G>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1553750083	GTGACGCGCTTTTCGTGGCGGCGGGC>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1553750097	G>C,T	Uncertain-significance, likely-pathogenic	Stop gained, non coding transcript variant, missense variant, coding sequence variant
rs1576687466	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT039577	hsa-miR-636	CLASH	23622248
MIRT609014	hsa-miR-410-3p	HITS-CLIP	24906430
MIRT609013	hsa-miR-5011-5p	HITS-CLIP	24906430
MIRT609012	hsa-miR-3689a-5p	HITS-CLIP	24906430
MIRT609011	hsa-miR-3689b-5p	HITS-CLIP	24906430
MIRT609010	hsa-miR-3689e	HITS-CLIP	24906430
MIRT609009	hsa-miR-3689f	HITS-CLIP	24906430
MIRT609008	hsa-miR-6867-5p	HITS-CLIP	24906430
MIRT609007	hsa-miR-6818-5p	HITS-CLIP	24906430
MIRT609006	hsa-miR-574-5p	HITS-CLIP	24906430
MIRT576701	hsa-miR-154-3p	HITS-CLIP	27418678
MIRT576701	hsa-miR-154-3p	HITS-CLIP	27418678
MIRT576701	hsa-miR-154-3p	HITS-CLIP	27418678
MIRT609012	hsa-miR-3689a-5p	HITS-CLIP	27418678
MIRT609012	hsa-miR-3689a-5p	HITS-CLIP	27418678
MIRT609012	hsa-miR-3689a-5p	HITS-CLIP	27418678
MIRT609012	hsa-miR-3689a-5p	HITS-CLIP	27418678
MIRT609011	hsa-miR-3689b-5p	HITS-CLIP	27418678
MIRT609011	hsa-miR-3689b-5p	HITS-CLIP	27418678
MIRT609011	hsa-miR-3689b-5p	HITS-CLIP	27418678
MIRT609011	hsa-miR-3689b-5p	HITS-CLIP	27418678
MIRT609010	hsa-miR-3689e	HITS-CLIP	27418678
MIRT609010	hsa-miR-3689e	HITS-CLIP	27418678
MIRT609010	hsa-miR-3689e	HITS-CLIP	27418678
MIRT609010	hsa-miR-3689e	HITS-CLIP	27418678
MIRT609009	hsa-miR-3689f	HITS-CLIP	27418678
MIRT609009	hsa-miR-3689f	HITS-CLIP	27418678
MIRT609009	hsa-miR-3689f	HITS-CLIP	27418678
MIRT609009	hsa-miR-3689f	HITS-CLIP	27418678
MIRT609014	hsa-miR-410-3p	HITS-CLIP	27418678
MIRT576700	hsa-miR-487a-3p	HITS-CLIP	27418678
MIRT576700	hsa-miR-487a-3p	HITS-CLIP	27418678
MIRT576700	hsa-miR-487a-3p	HITS-CLIP	27418678
MIRT609013	hsa-miR-5011-5p	HITS-CLIP	27418678
MIRT576699	hsa-miR-511-3p	HITS-CLIP	27418678
MIRT576699	hsa-miR-511-3p	HITS-CLIP	27418678
MIRT576699	hsa-miR-511-3p	HITS-CLIP	27418678
MIRT576696	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT576696	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT576696	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT576696	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT576697	hsa-miR-6818-5p	HITS-CLIP	27418678
MIRT576697	hsa-miR-6818-5p	HITS-CLIP	27418678
MIRT576697	hsa-miR-6818-5p	HITS-CLIP	27418678
MIRT576697	hsa-miR-6818-5p	HITS-CLIP	27418678
MIRT576698	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT576698	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT576698	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT576698	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT1054216	hsa-miR-1913	CLIP-seq
MIRT1054217	hsa-miR-2113	CLIP-seq
MIRT1054218	hsa-miR-3117-5p	CLIP-seq
MIRT1054219	hsa-miR-3149	CLIP-seq
MIRT1054220	hsa-miR-324-3p	CLIP-seq
MIRT1054221	hsa-miR-340	CLIP-seq
MIRT1054222	hsa-miR-3611	CLIP-seq
MIRT1054223	hsa-miR-3646	CLIP-seq
MIRT1054224	hsa-miR-4293	CLIP-seq
MIRT1054225	hsa-miR-4422	CLIP-seq
MIRT1054226	hsa-miR-4704-5p	CLIP-seq
MIRT1054227	hsa-miR-4719	CLIP-seq
MIRT1054228	hsa-miR-4727-5p	CLIP-seq
MIRT1054229	hsa-miR-4766-5p	CLIP-seq
MIRT1054230	hsa-miR-487a	CLIP-seq
MIRT1054231	hsa-miR-544	CLIP-seq
MIRT1054232	hsa-miR-548a-3p	CLIP-seq
MIRT1054233	hsa-miR-548ag	CLIP-seq
MIRT1054234	hsa-miR-548ai	CLIP-seq
MIRT1054235	hsa-miR-548e	CLIP-seq
MIRT1054236	hsa-miR-548f	CLIP-seq
MIRT1054237	hsa-miR-602	CLIP-seq
MIRT1054238	hsa-miR-758	CLIP-seq
MIRT1054218	hsa-miR-3117-5p	CLIP-seq
MIRT2012313	hsa-miR-3143	CLIP-seq
MIRT1054226	hsa-miR-4704-5p	CLIP-seq
MIRT2012314	hsa-miR-4709-5p	CLIP-seq
MIRT2012315	hsa-miR-485-3p	CLIP-seq
MIRT1054230	hsa-miR-487a	CLIP-seq
MIRT1054232	hsa-miR-548a-3p	CLIP-seq
MIRT1054235	hsa-miR-548e	CLIP-seq
MIRT1054236	hsa-miR-548f	CLIP-seq
MIRT2244656	hsa-miR-1343	CLIP-seq
MIRT2244657	hsa-miR-1976	CLIP-seq
MIRT1054218	hsa-miR-3117-5p	CLIP-seq
MIRT2244658	hsa-miR-3907	CLIP-seq
MIRT2244659	hsa-miR-4268	CLIP-seq
MIRT2244660	hsa-miR-4279	CLIP-seq
MIRT2244661	hsa-miR-4448	CLIP-seq
MIRT1054226	hsa-miR-4704-5p	CLIP-seq
MIRT2012315	hsa-miR-485-3p	CLIP-seq
MIRT1054232	hsa-miR-548a-3p	CLIP-seq
MIRT1054235	hsa-miR-548e	CLIP-seq
MIRT1054236	hsa-miR-548f	CLIP-seq
MIRT1054218	hsa-miR-3117-5p	CLIP-seq
MIRT1054226	hsa-miR-4704-5p	CLIP-seq
MIRT2012315	hsa-miR-485-3p	CLIP-seq
MIRT1054232	hsa-miR-548a-3p	CLIP-seq
MIRT1054235	hsa-miR-548e	CLIP-seq
MIRT1054236	hsa-miR-548f	CLIP-seq
MIRT2451370	hsa-miR-3121-3p	CLIP-seq
MIRT2451371	hsa-miR-3684	CLIP-seq
MIRT2451372	hsa-miR-4698	CLIP-seq
MIRT2547564	hsa-miR-2053	CLIP-seq
MIRT2547565	hsa-miR-30a	CLIP-seq
MIRT2547566	hsa-miR-30b	CLIP-seq
MIRT2547567	hsa-miR-30c	CLIP-seq
MIRT2547568	hsa-miR-30d	CLIP-seq
MIRT2547569	hsa-miR-30e	CLIP-seq
MIRT2547570	hsa-miR-3662	CLIP-seq
MIRT2547571	hsa-miR-3919	CLIP-seq
MIRT2547572	hsa-miR-4305	CLIP-seq
MIRT2547573	hsa-miR-4756-3p	CLIP-seq
MIRT2547574	hsa-miR-498	CLIP-seq
MIRT2547575	hsa-miR-548a-5p	CLIP-seq
MIRT2547576	hsa-miR-548ab	CLIP-seq
MIRT2547577	hsa-miR-548ak	CLIP-seq
MIRT2547578	hsa-miR-548b-5p	CLIP-seq
MIRT2547579	hsa-miR-548c-5p	CLIP-seq
MIRT2547580	hsa-miR-548d-5p	CLIP-seq
MIRT2547581	hsa-miR-548h	CLIP-seq
MIRT2547582	hsa-miR-548i	CLIP-seq
MIRT2547583	hsa-miR-548j	CLIP-seq
MIRT2547584	hsa-miR-548n	CLIP-seq
MIRT2547585	hsa-miR-548t	CLIP-seq
MIRT2547586	hsa-miR-548w	CLIP-seq
MIRT2547587	hsa-miR-548y	CLIP-seq
MIRT2547588	hsa-miR-559	CLIP-seq
MIRT2547589	hsa-miR-569	CLIP-seq
MIRT2547590	hsa-miR-579	CLIP-seq
MIRT2547591	hsa-miR-633	CLIP-seq
MIRT2547592	hsa-miR-802	CLIP-seq
MIRT2547564	hsa-miR-2053	CLIP-seq
MIRT2547565	hsa-miR-30a	CLIP-seq
MIRT2547566	hsa-miR-30b	CLIP-seq
MIRT2547567	hsa-miR-30c	CLIP-seq
MIRT2547568	hsa-miR-30d	CLIP-seq
MIRT2547569	hsa-miR-30e	CLIP-seq
MIRT2547571	hsa-miR-3919	CLIP-seq
MIRT2547572	hsa-miR-4305	CLIP-seq
MIRT2547573	hsa-miR-4756-3p	CLIP-seq
MIRT2547589	hsa-miR-569	CLIP-seq
MIRT2547590	hsa-miR-579	CLIP-seq
MIRT2547591	hsa-miR-633	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	25189619
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0006996	Process	Organelle organization	IBA	21873635
GO:0031084	Component	BLOC-2 complex	IBA	21873635
GO:0031084	Component	BLOC-2 complex	IPI	15030569
GO:0043473	Process	Pigmentation	IEA

Other IDs

• MIM: 606118
• HGNC: 15597
• e!Ensembl: ENSG00000163755

Protein

• UniProt ID: Q969F9
• Protein name: BLOC-2 complex member HPS3 (Hermansky-Pudlak syndrome 3 protein)
• Protein function: Involved in early stages of melanosome biogenesis and maturation.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF14761	HPS3_N	3 → 212	Hermansky-Pudlak syndrome 3	Domain
  PF14762	HPS3_Mid	256 → 642	Hermansky-Pudlak syndrome 3, middle region	Domain
  PF14763	HPS3_C	651 → 1002	Hermansky-Pudlak syndrome 3, C-terminal	Domain

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. Higher levels of expression are observed in kidney, liver and placenta.
• Sequence:

  MVQLYNLHPFGSQQVVPCKLEPDRFCGGGRDALFVAAGCKVEAFAVAGQELCQPRCAFST
  LGRVLRLAYSEAGDYLVAIEEKNKATFLRAYVNWRNKRTENSRVCIRMIGHNVEGPFSKA
  FRDQMYIIEMPLSEAPLCISCCPVKGDLLVGCTNKLVLFSLKYQIINEEFSLLDFERSLI
  IHIDNITPVEVSFCVGYVAVMSDLEVLIVKLESGPKNGERVHHHPHKTNNRIRRTEEGIS
  NEISQLESDDFVICQKPLELLGEKSEQSGLSVTLESTGLADEKRKYSHFQHLLYRRFAPD
  ISSYVLSDDIKLHSLQLLPIYQTGSLTSDGKNLSQEKELLSLFCFFSLPHVGYLYMVVKS
  VELMSVYQYPEKSQQAVLTPQFLHVITSNNLQCFTVRCSAAAAREEDPYMDTTLKACPPV
  SMDVCALRIQLFIGLKAICHFKNHIILLTKAEPEAIPERRQSPKRLLSRKDTSVKIKIPP
  VAEAGWNLYIVNTISPVQLYKEMVDYSNTYKTVKTQSCIHLLSEAHLLVRAALMDASQLE
  PGEKAELLEAFKESCGHLGDCYSRLDSQHSHLTLPYYKMSGLSMAEVLARTDWTVEDGLQ
  KYERGLIFYINHSLYENLDEELNEELAAKVVQMFYVAEPKQVPHILCSPSMKNINPLTAM
  SYLRKLDTSGFSSILVTLTKAAVALKMGDLDMHRNEMKSHSEMKLVCGFILEPRLLIQQR
  KGQIVPTELALHLKETQPGLLVASVLGLQKNNKIGIEEADSFFKVLCAKDEDTIPQLLVD
  FWEAQLVACLPDVVLQELFFKLTSQYIWRLSKRQPPDTTPLRTSEDLINACSHYGLIYPW
  VHVVISSDSLADKNYTEDLSKLQSLICGPSFDIASIIPFLEPLSEDTIAGLSVHVLCRTR
  LKEYEQCIDILLERCPEAVIPYANHELKEENRTLWWKKLLPELCQRIKCGGEKYQLYLSS
  LKETLSIVAVELELKDFMNVLPEDGTATFFLPYLLYCSRKKPLT

• Sequence length: 1004

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Colorectal cancer	Colorectal Carcinoma	rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800, rs63750198, rs63751109, rs863223312, rs63750710, rs63751615, rs63750206, rs63750781, rs63750899, rs63750691, rs63750217, rs121912965, rs63749939, rs63751194, rs63750693, rs63750540, rs63751221, rs193922370, rs80359596, rs397514632, rs483352909, rs200495564, rs397514684, rs397516436, rs398122386, rs79512956, rs74953290, rs587779001, rs63750677, rs63749837, rs267607816, rs63751715, rs267607819, rs267607815, rs267607822, rs63749906, rs587778883, rs63750472, rs63751012, rs63750715, rs63750580, rs267607706, rs267607709, rs267607710, rs587778894, rs63750749, rs63750483, rs63751015, rs63751153, rs63751094, rs63751118, rs63750316, rs63749981, rs587778906, rs267607821, rs587778908, rs63750020, rs587778909, rs63750713, rs267607825, rs63751592, rs281864936, rs587778913, rs587778914, rs63749795, rs63750855, rs63749916, rs63749923, rs63751472, rs63751689, rs267607832, rs267607837, rs267607836, rs587778923, rs63750028, rs587778928, rs587778929, rs587778930, rs63751277, rs587778933, rs267607842, rs267607843, rs63750192, rs587778934, rs63750193, rs587778937, rs587778938, rs267607845, rs63751244, rs63751393, rs63751460, rs267607849, rs267607853, rs267607856, rs267607850, rs63751657, rs267607854, rs267607852, rs587778942, rs63750309, rs63750587, rs63749863, rs63751486, rs63750016, rs63749868, rs63750375, rs63750035, rs63750604, rs63750386, rs63750150, rs63750486, rs63751428, rs267607866, rs63749986, rs63751594, rs63750152, rs63750850, rs267607867, rs267607868, rs63751632, rs267607871, rs63751892, rs587778956, rs63750469, rs587778958, rs63749792, rs267607875, rs63751255, rs281864938, rs63751202, rs63750726, rs63751310, rs63749900, rs587778964, rs267607879, rs267607878, rs587778966, rs267607883, rs267607887, rs63750061, rs63750663, rs587778968, rs587778971, rs63750809, rs63749867, rs63750864, rs587778972, rs63751275, rs267607718, rs267607722, rs63750769, rs267607717, rs587778973, rs267607716, rs267607720, rs63749995, rs63750859, rs587778975, rs63750114, rs587778976, rs63750603, rs267607889, rs267607723, rs63750561, rs63750499, rs63751642, rs63751022, rs587778981, rs63750971, rs267607898, rs267607906, rs267607903, rs587778989, rs587778992, rs267607894, rs267607901, rs267607892, rs63750437, rs587778997, rs587778998, rs63750005, rs63750641, rs63751421, rs11541859, rs63750266, rs111052004, rs267607726, rs267607727, rs63750453, rs267607734, rs267607735, rs63751665, rs267607736, rs267607732, rs63749816, rs63750539, rs267607739, rs587779006, rs587779008, rs267607745, rs267607742, rs63751595, rs267607743, rs587779010, rs587779012, rs63750057, rs63749818, rs63751124, rs587779014, rs587779015, rs63749820, rs63751302, rs267607750, rs267607751, rs267607749, rs63750891, rs63749959, rs63749804, rs267607765, rs267607760, rs587779021, rs267607759, rs63750515, rs587779023, rs63751021, rs63751480, rs267607772, rs267607773, rs587779024, rs63751653, rs587779027, rs267607767, rs587779029, rs63750706, rs63750385, rs267607774, rs267607778, rs267607780, rs587779034, rs63751711, rs267607784, rs587779035, rs63750823, rs63750822, rs267607787, rs63750303, rs63749839, rs63749827, rs267607789, rs267607790, rs267607791, rs267607786, rs267607771, rs267607795, rs267607794, rs267607788, rs267607799, rs267607801, rs587779045, rs63750034, rs587779047, rs63750216, rs63751707, rs63751598, rs267607803, rs267607777, rs63750144, rs267607805, rs63750547, rs63750489, rs63750993, rs587779054, rs63751259, rs63749926, rs63750796, rs587779058, rs63750745, rs63750582, rs180177084, rs587779866, rs200389141, rs587779950, rs587780104, rs587780183, rs587778536, rs587780683, rs587781554, rs267607712, rs587777627, rs587783057, rs730881734, rs41542214, rs730881273, rs786203456, rs786201990, rs786202767, rs748005072, rs786204317, rs786204318, rs797045117, rs63750549, rs863225383, rs863225384, rs863225373, rs863225376, rs863225377, rs863225378, rs863225379, rs863225380, rs863225381, rs63750059, rs267607823, rs864622457, rs869312767, rs869312753, rs876661059, rs876658915, rs876658923, rs876660860, rs876660822, rs876660458, rs876660214, rs876658657, rs876658247, rs876659226, rs876658821, rs876660589, rs876659068, rs876659681, rs876659608, rs878853794, rs878853778, rs878853780, rs878853785, rs886039423, rs886039424, rs1057517543, rs1057517541, rs756843954, rs1057517617, rs1057517558, rs1057519256, rs1060500689, rs764085979, rs1060500707, rs1060500699, rs1060500706, rs1060500703, rs1064795341, rs1064793607, rs1064794348, rs1064795441, rs1064794373, rs1064793172, rs1064794122, rs1064795515, rs1064794331, rs63750978, rs1114167435, rs1553641362, rs63751448, rs1553648029, rs1553648058, rs587778903, rs1553653237, rs1553664353, rs267607744, rs1553647995, rs1553648047, rs1553653084, rs1553663750, rs1553664436, rs1553488015, rs1553637293, rs63750310, rs63750443, rs63751596, rs1553646681, rs550890395, rs1064796057, rs1553642079, rs1553648023, rs587782087, rs746536721, rs1553653037, rs1248251121, rs1553646602, rs1434898623, rs1553665683, rs1553648068, rs1553645331, rs1553644123, rs1553658246, rs1553651299, rs1553648149, rs1553663159, rs1302248679, rs1553664119, rs1553658009, rs1553665977, rs1416171624, rs1553663834, rs1553664617, rs1553664702, rs1553647969, rs1553648040, rs1437454428, rs1553641273, rs63751101, rs1553646764, rs1553648225, rs1554082118, rs1553648201, rs1553638868, rs1553665866, rs376736188, rs1553642707, rs1553645226, rs1553652883, rs63751435, rs1553653115, rs1553653195, rs63750300, rs1553662622, rs1553658104, rs1553648220, rs1559544064, rs63750584, rs267608083, rs1559551570, rs1559575107, rs1559553501, rs1565986506, rs1559524405, rs1559553492, rs1559554339, rs1559588540, rs1559558071, rs761329565, rs1559521039, rs1559574795, rs1567221417, rs1559578422, rs1481129490, rs1570714352, rs779783209, rs1575376830, rs1575469070, rs1575537843, rs1575620443, rs1575621506, rs587779022, rs1575414904, rs1575449093, rs1575469505, rs1575536254, rs1575537933, rs1575632112, rs1575639851, rs1575441094, rs1575449402, rs267607831, rs2081922847, rs2083403132, rs2085415927, rs2085469647, rs2043913790, rs147542208
Hermansky-pudlak syndrome	Hermanski-Pudlak Syndrome, HERMANSKY-PUDLAK SYNDROME 3	rs281865116, rs281865113, rs281865103, rs104893945, rs119471021, rs281865100, rs281865097, rs119471022, rs119471023, rs119471024, rs119471025, rs201227603, rs281865093, rs397507168, rs281865095, rs121908316, rs281865163, rs281865082, rs121908385, rs121908386, rs281865081, rs281865077, rs121908904, rs1000881595, rs121908905, rs121908906, rs121908907, rs281865084, rs281865086, rs281865088, rs281865090, rs281865075, rs281865076, rs281865080, rs281865104, rs281865105, rs397507169, rs281865101, rs201348482, rs1564899492, rs281865114, rs281865110, rs281865107, rs281865112, rs727502866, rs786205464, rs869312835, rs869312836, rs869312837, rs869312838, rs369053765, rs879255646, rs886041723, rs1591055649, rs753928208, rs113304476, rs1131692151, rs1131692149, rs1131692146, rs1131692148, rs1131692147, rs764296457, rs1131692150, rs1131692332, rs1131692333, rs766602179, rs281865115, rs1554903728, rs1220869113, rs773323079, rs1554948134, rs1486224265, rs1277509410, rs1553750083, rs372020804, rs1564899012, rs1590262288, rs753185316, rs1553750097, rs780183200, rs1576695913, rs1576708708, rs1590262450, rs756471925, rs1478574193, rs1590263807, rs1590263820, rs779921624, rs755827664, rs374689398, rs886077189, rs1591120765, rs1260083432, rs748883997, rs750685598, rs778152054, rs755083879, rs1488175163, rs1591092841, rs1576687466, rs756325364, rs1591002808, rs1591045080, rs1602079277, rs1591109881, rs1591031929, rs200079039, rs1595560288, rs772475341, rs1330496818, rs1745947620, rs552340796, rs1453977337, rs754841982, rs1568469902, rs1763106978	25525159, 11590544, 28284561, 11455388
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896

Unknown
Disease term	Disease name	Evidence	References	Source
Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis	Hermansky-Pudlak syndrome without pulmonary fibrosis			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Albinism	Associate	33808351, 35488210
Blood Platelet Disorders	Associate	38007062
Hermanski Pudlak Syndrome	Associate	11590544, 16159387, 16417222, 24766090, 30990103, 31880485, 34608437, 36672886, 38007062
Hermansky Pudlak syndrome 2	Associate	11590544
Inflammatory Bowel Diseases	Associate	33423334
Menorrhagia	Stimulate	30659653
Vision Disorders	Associate	11590544