WAS (WASP actin nucleation promoting factor)

Gene

• Entrez ID: 7454
• Gene name: WASP actin nucleation promoting factor
• Gene symbol: WAS
• Synonyms (NCBI Gene): IMD2, SCNX, THC, THC1, WASP, WASPA
• Chromosome: X
• Chromosome location: Xp11.23
• Summary: The Wiskott-Aldrich syndrome (WAS) family of proteins share similar domain structure, and are involved in transduction of signals from receptors on the cell surface to the actin cytoskeleton. The presence of a number of different motifs suggests that the

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs132630268	G>A,C,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs132630269	C>T	Pathogenic	Coding sequence variant, missense variant
rs132630270	C>G	Pathogenic	Coding sequence variant, missense variant
rs132630271	C>A,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs132630272	T>C	Pathogenic	Coding sequence variant, missense variant
rs132630273	C>T	Pathogenic	Coding sequence variant, missense variant
rs132630274	T>C	Pathogenic	Coding sequence variant, missense variant
rs132630275	C>A,G	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs132630276	T>A	Pathogenic	Coding sequence variant, missense variant
rs139265251	G>A,C	Not-provided, pathogenic, benign	Coding sequence variant, missense variant
rs145040665	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs150520117	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs193922412	ACCGCCACC>-,ACCGCCACCACCGCCACC	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Inframe deletion, coding sequence variant, inframe insertion
rs193922414	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs193922415	C>T	Pathogenic	Coding sequence variant, stop gained
rs193922416	->C	Likely-pathogenic	Frameshift variant, coding sequence variant
rs368151220	C>A,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs387906716	T>C	Pathogenic	Missense variant, coding sequence variant
rs387906717	T>C	Pathogenic	Missense variant, coding sequence variant
rs587776742	A>T	Pathogenic	Missense variant, initiator codon variant
rs587776743	->ACGAGG	Pathogenic	Inframe insertion, coding sequence variant
rs587776744	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs587776745	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs781799471	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs782290433	G>A	Pathogenic	Coding sequence variant, missense variant
rs886039451	G>A,C	Likely-pathogenic, pathogenic	Intron variant
rs886041379	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1057517845	G>A	Pathogenic	Splice donor variant
rs1057518633	->CCACCACC	Pathogenic	Frameshift variant, coding sequence variant
rs1057520700	G>A,C,T	Pathogenic	Splice donor variant
rs1064793292	->GGGAATGGACCAGCCCC	Pathogenic	Frameshift variant, coding sequence variant
rs1064793293	G>A	Pathogenic	Missense variant, coding sequence variant
rs1064793974	G>T	Pathogenic	Coding sequence variant, stop gained
rs1064794076	G>A	Pathogenic	Splice donor variant
rs1085307678	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1557006239	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs1557006316	TACCT>AACCTGGCGCTGCCCCC	Likely-pathogenic	Inframe indel, coding sequence variant
rs1557006354	C>T	Pathogenic	Stop gained, coding sequence variant
rs1557006474	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1557006672	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1557007011	G>A	Pathogenic	Intron variant
rs1557007035	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1557007123	C>T	Pathogenic	Intron variant, stop gained, coding sequence variant
rs1557007165	C>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs1557007312	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1569493877	T>A	Pathogenic	Splice donor variant
rs1569494025	G>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1602176146	CAGAGCCTCGCCAGAGAAGACAAGGGCAGAAAGCACCATGAGTGGGGGCCCAATGGGAGGAAGGCCCGGGGGCCGAGGAGCACCAGCGGTTCAGCAGAACATACCCTCCACCCTCCTCCAGGACCACGAGAACCAGCGACTCTTTGAGATGCTTGGACGAAAATGCTTGGTGAGCTGGGGATCTCCTGCCCCCGCCCCGTCCCC>-	Pathogenic	Splice donor variant, 5 prime UTR variant, initiator codon variant, intron variant
rs1602176222	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602176299	AC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602177243	G>T	Pathogenic	Coding sequence variant, stop gained
rs1602177562	GC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602177733	T>G	Pathogenic	Splice donor variant
rs1602178087	G>A	Pathogenic	Splice acceptor variant
rs1602178165	C>T	Pathogenic	Coding sequence variant, stop gained
rs1602178184	TAGCC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602178267	G>A	Pathogenic	Intron variant
rs1602178800	A>G	Pathogenic	Splice acceptor variant
rs1602178952	G>TT	Pathogenic	Coding sequence variant, frameshift variant
rs1602179000	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602179794	CGGCAGGGAATTCAGCTGAACAAGGTGAGGACAGGCAGGATGGAGGATTGGGGGTCTAGGACTCTGGGGTGTCCCGTCTAAGTCAGGATACTGGGGGGCTGAGGCCAGGACTGAGGAGAGTGCCAGGCCTTAGGGATTCAGTGATAGGGTTGAAAGGTTGGTGGGAAGCCTTGAAGGGGACTGGAGTGTGTGGGAGAGAAAATATTGATGGAGGGGCGGGGAGAAATGCTCCTTTCCCAGGCCCTAAGCCCTCTG	Pathogenic	Coding sequence variant, splice acceptor variant, intron variant, splice donor variant
rs1602179810	AGGTGAGGACA>-	Pathogenic	Coding sequence variant, splice donor variant, intron variant
rs1602180020	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1602180058	C>T	Pathogenic	Coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1488620	hsa-miR-1207-5p	CLIP-seq
MIRT1488621	hsa-miR-1224-5p	CLIP-seq
MIRT1488622	hsa-miR-1262	CLIP-seq
MIRT1488623	hsa-miR-1294	CLIP-seq
MIRT1488624	hsa-miR-3147	CLIP-seq
MIRT1488625	hsa-miR-3659	CLIP-seq
MIRT1488626	hsa-miR-4310	CLIP-seq
MIRT1488627	hsa-miR-4316	CLIP-seq
MIRT1488628	hsa-miR-4425	CLIP-seq
MIRT1488629	hsa-miR-4443	CLIP-seq
MIRT1488630	hsa-miR-4514	CLIP-seq
MIRT1488631	hsa-miR-4645-5p	CLIP-seq
MIRT1488632	hsa-miR-4658	CLIP-seq
MIRT1488633	hsa-miR-4673	CLIP-seq
MIRT1488634	hsa-miR-4692	CLIP-seq
MIRT1488635	hsa-miR-4701-3p	CLIP-seq
MIRT1488636	hsa-miR-4751	CLIP-seq
MIRT1488637	hsa-miR-4763-3p	CLIP-seq
MIRT1488638	hsa-miR-574-5p	CLIP-seq
MIRT1488639	hsa-miR-940	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
ETS1	Unknown	10066431
MYB	Unknown	10066431
SP1	Unknown	10066431
SPI1	Unknown	10066431

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002625	Process	Regulation of T cell antigen processing and presentation	IMP	22804504
GO:0003779	Function	Actin binding	IEA
GO:0005515	Function	Protein binding	IPI	8892607, 9405671, 9422512, 9660763, 10202051, 12029088, 12235133, 12591280, 15169891, 15361624, 16488394, 17213309, 17242350, 18650809, 19234535, 19487689, 19805221, 19817875, 20936779, 21516116, 21988832, 22252508, 25416956, 25502805, 29248492, 31515488, 32296183
GO:0005634	Component	Nucleus	IDA	20574068, 29925947
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA	8625410
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005884	Component	Actin filament	IDA	8625410
GO:0005886	Component	Plasma membrane	IDA
GO:0005911	Component	Cell-cell junction	IEA
GO:0006952	Process	Defense response	IEA
GO:0006952	Process	Defense response	TAS	8069912
GO:0006955	Process	Immune response	IEA
GO:0006955	Process	Immune response	IMP	8069912
GO:0007015	Process	Actin filament organization	IEA
GO:0007266	Process	Rho protein signal transduction	IMP	8625410
GO:0007596	Process	Blood coagulation	TAS	8069912
GO:0008064	Process	Regulation of actin polymerization or depolymerization	IMP	8625410
GO:0008154	Process	Actin polymerization or depolymerization	IEA
GO:0008154	Process	Actin polymerization or depolymerization	TAS	8625410
GO:0008544	Process	Epidermis development	TAS	8069912
GO:0010591	Process	Regulation of lamellipodium assembly	IGI	8625410
GO:0012506	Component	Vesicle membrane	IEA
GO:0015629	Component	Actin cytoskeleton	TAS	8625410
GO:0016020	Component	Membrane	IEA
GO:0016197	Process	Endosomal transport	IEA
GO:0017124	Function	SH3 domain binding	IPI	8892607, 19798448
GO:0019901	Function	Protein kinase binding	IPI	8892607
GO:0030041	Process	Actin filament polymerization	IDA	29925947
GO:0030041	Process	Actin filament polymerization	IEA
GO:0030041	Process	Actin filament polymerization	IEA
GO:0030048	Process	Actin filament-based movement	IEA
GO:0030695	Function	GTPase regulator activity	TAS	8625410
GO:0031267	Function	Small GTPase binding	IPI	8625410, 10724160
GO:0032488	Process	Cdc42 protein signal transduction	IMP	8625410
GO:0035861	Component	Site of double-strand break	IDA	29925947
GO:0042110	Process	T cell activation	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	IPI	10724160, 12769847, 18650809
GO:0043274	Function	Phospholipase binding	IPI	8892607
GO:0045335	Component	Phagocytic vesicle	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	20574068
GO:0051492	Process	Regulation of stress fiber assembly	IGI	8625410
GO:0051497	Process	Negative regulation of stress fiber assembly	IMP	8625410
GO:0065003	Process	Protein-containing complex assembly	TAS	8625410
GO:0070062	Component	Extracellular exosome	HDA	20458337
GO:0071346	Process	Cellular response to type II interferon	IEA
GO:1905168	Process	Positive regulation of double-strand break repair via homologous recombination	IDA	29925947
GO:2000146	Process	Negative regulation of cell motility	IMP	22804504
GO:2001032	Process	Regulation of double-strand break repair via nonhomologous end joining	IDA	29925947

Other IDs

• MIM: 300392
• HGNC: 12731
• e!Ensembl: ENSG00000015285

Protein

• UniProt ID: P42768
• Protein name: Actin nucleation-promoting factor WAS (Wiskott-Aldrich syndrome protein) (WASp)
• Protein function: Effector protein for Rho-type GTPases that regulates actin filament reorganization via its interaction with the Arp2/3 complex (PubMed:12235133, PubMed:12769847, PubMed:16275905). Important for efficient actin polymerization (PubMed:12235133, Pu
• PDB: 1CEE, 1EJ5, 1T84, 2A3Z, 2K42, 2OT0
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00568	WH1	36 → 145	WH1 domain	Domain
  PF00786	PBD	237 → 296	P21-Rho-binding domain	Domain
  PF02205	WH2	427 → 454	WH2 motif	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed predominantly in the thymus. Also found, to a much lesser extent, in the spleen. {ECO:0000269|PubMed:8069912}.
• Sequence:

  MSGGPMGGRPGGRGAPAVQQNIPSTLLQDHENQRLFEMLGRKCLTLATAVVQLYLALPPG
  AEHWTKEHCGAVCFVKDNPQKSYFIRLYGLQAGRLLWEQELYSQLVYSTPTPFFHTFAGD
  DCQAGLNFADEDEAQAFRALVQEKIQKRNQRQSGDRRQLPPPPTPANEERRGGLPPLPLH
  PGGDQGGPPVGPLSLGLATVDIQNPDITSSRYRGLPAPGPSPADKKRSGKKKISKADIGA
  PSGFKHVSHVGWDPQNGFDVNNLDPDLRSLFSRAGISEAQLTDAETSKLIYDFIEDQGGL
  EAVRQEMRRQEPLPPPPPPSRGGNQLPRPPIVGGNKGRSGPLPPVPLGIAPPPPTPRGPP
  PPGRGGPPPPPPPATGRSGPLPPPPPGAGGPPMPPPPPPPPPPPSSGNGPAPPPLPPALV
  PAGGLAPGGGRGALLDQIRQGIQLNKTPGAPESSALQPPPQSSEGLVGALMHVMQKRSRA
  IHSSDEGEDQAGDEDEDDEWDD

• Sequence length: 502

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Abnormality of blood and blood-forming tissues	Likely pathogenic	rs2147266958	RCV001814436	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colon adenocarcinoma	Pathogenic	rs1057517845	RCV005900671	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thrombocytopenia	Pathogenic; Likely pathogenic	rs2147265894, rs2519289013, rs132630273	RCV002280913 RCV002280981 RCV000851684	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thrombocytopenia 1	Likely pathogenic; Pathogenic	rs2147262951, rs2147264299, rs2147264981, rs2147265693, rs2147265917, rs2147267350, rs2147262855, rs2147265717, rs2147266474, rs2147262809, rs2147263882, rs2147266379, rs2147263906, rs2147267240, rs2519281309, rs2519280746, rs797044477, rs150520117, rs2519280132, rs2519280195, rs2519280832, rs1557007312, rs2519287897, rs2519286526, rs2519283379, rs2519280880, rs2519277338, rs2519288079, rs2519280109, rs2519283164, rs1602178800, rs2519287822, rs2519286791, rs2519280651, rs2519278652, rs782290433, rs132630268, rs132630269, rs132630270, rs2519281397, rs132630271, rs132630273, rs132630274, rs587776745, rs2519280825, rs2519281015, rs2147264930, rs2519286945, rs1243089358, rs2519283517, rs2519281331, rs2519281091, rs2519277606, rs2519286534, rs2519289166, rs1057517845, rs886039451, rs1057520700, rs387906716, rs387906717, rs1064794076, rs1064793293, rs1557007011, rs1557007123, rs193922415, rs139265251, rs1557006354, rs1557006239, rs1569494025, rs1569493877, rs1602177243, rs1602177562, rs1602178165, rs1602178184, rs1602178952, rs1602179000, rs1602176146, rs1602180058, rs2062410421, rs2062410722, rs2062412365, rs2062412730, rs2062416272, rs2062417558, rs1557007165, rs2062429013, rs11545907, rs2062416187, rs2062422078, rs2062412197, rs2062412810, rs886041379, rs2062426981	RCV001379030 RCV001387982 RCV001390444 RCV001386341 RCV001387588 RCV001387958 RCV002542702 RCV001959541 RCV001950664 RCV001904777 RCV002004114 RCV001952206 RCV001928082 RCV002012548 RCV002308506 RCV003775557 RCV003064718 RCV003041444 RCV003041445 RCV003041446 RCV003064719 RCV003050613 RCV003061641 RCV002829716 RCV002825499 RCV002880962 RCV002898681 RCV002871544 RCV002852854 RCV002872630 RCV003021236 RCV003013605 RCV003027190 RCV003042620 RCV003051659 RCV003779810 RCV000589566 RCV000633305 RCV000011865 RCV000011866 RCV000011867 RCV003764558 RCV000011872 RCV001851800 RCV001225126 RCV003783760 RCV003783763 RCV003783764 RCV003783766 RCV003783767 RCV003797908 RCV003813598 RCV003801681 RCV003807543 RCV003804998 RCV005220798 RCV000461952 RCV001390443 RCV003766237 RCV003764631 RCV001058962 RCV005222958 RCV001038563 RCV001387957 RCV000818878 RCV001230612 RCV000588019 RCV001009627 RCV000633306 RCV000633307 RCV000696288 RCV000700442 RCV005213406 RCV000818272 RCV000797025 RCV000802424 RCV000794890 RCV000808153 RCV000812978 RCV000821672 RCV001029840 RCV001046712 RCV001035433 RCV001047233 RCV001058741 RCV001069236 RCV001058410 RCV001067557 RCV001041620 RCV001216267 RCV001219012 RCV001221529 RCV001220386 RCV001204405 RCV001205113 RCV001385415 RCV005225346	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
THROMBOCYTOPENIA, X-LINKED, INTERMITTENT	Pathogenic	rs132630275, rs132630276	RCV000011875 RCV000011876	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Pathogenic	rs1064793974	RCV005899645	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
WAS-related disorder	Pathogenic; Likely pathogenic	rs132630273, rs2519289166, rs387906717, rs11545907, rs2062412810	RCV004748516 RCV003934432 RCV003932228 RCV003407355 RCV003908449 RCV003938561	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Wiskott-Aldrich syndrome	Likely pathogenic; Pathogenic	rs1557006534, rs2147262951, rs2147264299, rs2147264981, rs2147265693, rs2147265917, rs2147267350, rs2147264989, rs2147266405, rs2147266326, rs2147262855, rs2147265717, rs2147266474, rs2147262809, rs2147263882, rs2147266379, rs2147263906, rs2147267240, rs2147265861, rs2147266901, rs2147262523, rs2147265894, rs2519280181, rs2519287245, rs2519280746, rs797044477, rs150520117, rs2519280132, rs2519280195, rs2519280832, rs1557007312, rs2519287897, rs2519286526, rs2519283379, rs2519280880, rs2519277338, rs2519288079, rs2519280109, rs2519283164, rs1602178800, rs2519287822, rs2519286791, rs2519280651, rs2519288131, rs2519283290, rs2519277671, rs2519278652, rs782290433, rs2147262829, rs132630268, rs132630269, rs132630271, rs587776742, rs587776743, rs132630273, rs587776744, rs132630274, rs1602178087, rs1602177733, rs587776745, rs1602176299, rs2519278549, rs2519286970, rs2519280825, rs2519281015, rs2147264930, rs2519286945, rs1243089358, rs2519283517, rs2519281331, rs2519281091, rs2519277606, rs2519286534, rs2519289166, rs2519286594, rs1057517845, rs886039451, rs1057520700, rs387906716, rs387906717, rs1064794076, rs1064793293, rs1557007011, rs1557007123, rs193922414, rs193922415, rs193922416, rs1557007035, rs1557006474, rs1557006672, rs1557006354, rs1557006239, rs1569494025, rs1569493877, rs1602179794, rs1602179810, rs1602177243, rs1602177562, rs1602178165, rs1602178184, rs1602178952, rs1602179000, rs1602176146, rs2062432605, rs2062432653, rs2062410421, rs2062410722, rs2062412365, rs2062412730, rs2062416272, rs2062417558, rs1557007165, rs2062429013, rs2062417344, rs2062418811, rs11545907, rs2062416187, rs2062422078, rs2062412197, rs2062412810, rs886041379, rs2062426981	RCV001332389 RCV001379030 RCV001387982 RCV001390444 RCV001386341 RCV001387588 RCV001387958 RCV002463367 RCV001706762 RCV001779410 RCV002542702 RCV001959541 RCV001950664 RCV001904777 RCV002004114 RCV001952206 RCV001928082 RCV002012548 RCV002052149 RCV002243549 RCV002245338 RCV002245412 RCV002283681 RCV002290121 RCV003775557 RCV003064718 RCV003041444 RCV003041445 RCV003041446 RCV003064719 RCV003050613 RCV003061641 RCV002829716 RCV002825499 RCV002880962 RCV002898681 RCV002871544 RCV002852854 RCV002872630 RCV003021236 RCV003013605 RCV003027190 RCV003042620 RCV003051659 RCV003130915 RCV003152995 RCV003219202 RCV003226667 RCV000768136 RCV000011862 RCV000011863 RCV000011864 RCV003764557 RCV000011868 RCV000011869 RCV000011870 RCV001037597 RCV000011873 RCV001851800 RCV000011880 RCV000011881 RCV000011882 RCV000011883 RCV003315489 RCV003340995 RCV003783760 RCV003783763 RCV003783764 RCV003783766 RCV003783767 RCV003797908 RCV003813598 RCV003801681 RCV003807543 RCV003804998 RCV005220798 RCV004587791 RCV000461952 RCV001390443 RCV001174594 RCV003764631 RCV001058962 RCV005222958 RCV000780796 RCV001387957 RCV000818878 RCV000030594 RCV000030595 RCV000030597 RCV000586443 RCV000586328 RCV000589073 RCV001056670 RCV000633306 RCV000633307 RCV000714956 RCV000696288 RCV000700442 RCV000780795 RCV000791261 RCV000791259 RCV000791260 RCV000818272 RCV000797025 RCV000802424 RCV000794890 RCV000808153 RCV000812978 RCV000821672 RCV001171382 RCV001171383 RCV001046712 RCV001035433 RCV001047233 RCV001058741 RCV001069236 RCV001058410 RCV001067557 RCV001041620 RCV001090058 RCV001194215 RCV001216267 RCV001219012 RCV001221529 RCV001220386 RCV001204405 RCV001205113 RCV001255566 RCV005225346	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
WISKOTT-ALDRICH SYNDROME, ATTENUATED	Likely pathogenic	rs132630272	RCV000011871	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
X-Linked Neutropenia	Likely pathogenic; Pathogenic	rs387906717	RCV004782021	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
X-linked severe congenital neutropenia	Likely pathogenic; Pathogenic	rs2147262951, rs2147264299, rs2147264981, rs2147265693, rs2147265917, rs2147267350, rs2147262855, rs2147265717, rs2147266474, rs2147262809, rs2147263882, rs2147266379, rs2147263906, rs2147267240, rs2147262851, rs2519280746, rs797044477, rs150520117, rs2519280132, rs2519280195, rs2519280832, rs1557007312, rs2519287897, rs2519286526, rs2519283379, rs2519280880, rs2519277338, rs2519288079, rs2519280109, rs2519283164, rs1602178800, rs2519287822, rs2519286791, rs2519280651, rs2519285821, rs2519278652, rs782290433, rs132630268, rs132630269, rs132630271, rs132630273, rs132630274, rs587776745, rs2519280825, rs2519281015, rs2147264930, rs2519286945, rs1243089358, rs2519283517, rs2519281331, rs2519281091, rs2519277606, rs2519286534, rs2519289166, rs1057517845, rs886039451, rs1057520700, rs387906716, rs387906717, rs1064794076, rs1064793293, rs1557007011, rs1557007123, rs1557007165, rs193922415, rs1557006354, rs1557006239, rs1569494025, rs1569493877, rs1602177243, rs1602177562, rs1602178165, rs1602178184, rs1602178952, rs1602179000, rs1602176146, rs1602178267, rs2062410421, rs2062410722, rs2062412365, rs2062412730, rs2062416272, rs2062417558, rs2062429013, rs11545907, rs2062416187, rs2062422078, rs2062412197, rs2062412810, rs886041379, rs2062426981	RCV001379030 RCV001387982 RCV001390444 RCV001386341 RCV001387588 RCV001387958 RCV002542702 RCV001959541 RCV001950664 RCV001904777 RCV002004114 RCV001952206 RCV001928082 RCV002012548 RCV002246812 RCV003775557 RCV003064718 RCV003041444 RCV003041445 RCV003041446 RCV003064719 RCV003050613 RCV003061641 RCV002829716 RCV002825499 RCV002880962 RCV002898681 RCV002871544 RCV002852854 RCV002872630 RCV003021236 RCV003013605 RCV003027190 RCV003042620 RCV003051659 RCV003159554 RCV003779810 RCV000768136 RCV000633305 RCV003764557 RCV003764558 RCV001037597 RCV000011874 RCV001225126 RCV003783760 RCV003783763 RCV003783764 RCV003783766 RCV003783767 RCV003797908 RCV003813598 RCV003801681 RCV003807543 RCV003804998 RCV005220798 RCV000461952 RCV001390443 RCV003766237 RCV000022858 RCV000022859 RCV005222958 RCV001038563 RCV001387957 RCV000818878 RCV000990812 RCV001230612 RCV001056670 RCV000633306 RCV000633307 RCV000696288 RCV000700442 RCV005213406 RCV000818272 RCV000797025 RCV000802424 RCV000794890 RCV000808153 RCV000812978 RCV000821672 RCV000990811 RCV001046712 RCV001035433 RCV001047233 RCV001058741 RCV001069236 RCV001058410 RCV001067557 RCV001041620 RCV001216267 RCV001219012 RCV001221529 RCV001220386 RCV001204405 RCV001205113 RCV001385415 RCV001280623	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Abnormal bleeding	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUTROPENIA, SEVERE CONGENITAL, X-LINKED	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED THROMBOCYTOPENIA WITH NORMAL PLATELETS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute leukemia	Leukemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anemia Hemolytic Autoimmune	Autoimmune hemolytic anemia	Pubtator	31354712	Associate	★☆☆☆☆ Found in Text Mining only
Anemia, Hemolytic	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anorexia Nervosa	Anorexia	BEFREE	30689342		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	26505163, 29423994, 29750976, 30115766, 31044291		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	29423994, 29750976, 30115766, 31044291		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	24945741, 25728049		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	40048636	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	18043243, 20182458, 24369837, 24945741, 25728049, 26993433, 30410494, 31047647		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	24872192, 31354712, 37478401	Associate	★☆☆☆☆ Found in Text Mining only
Blast Crisis	Blast crisis	Pubtator	29022901	Inhibit	★☆☆☆☆ Found in Text Mining only
Blast Phase	Blast phase chronic myelogenous leukemia	BEFREE	29022901		★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet disorder	Pubtator	10397718, 9376590	Associate	★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet-type bleeding disorder	BEFREE	12367583, 26175287		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	17934890		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	15749859, 18509249, 23535410, 23911287		★☆☆☆☆ Found in Text Mining only
Bruton type agammaglobulinemia	Bruton type agammaglobulinemia	Pubtator	10590061, 10688822, 22927353, 30564228	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	29022901	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	37122750	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	26662304		★☆☆☆☆ Found in Text Mining only
Catalepsy	Catalepsy	BEFREE	25769232, 30115766, 31311288		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	38575196	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	28882919		★☆☆☆☆ Found in Text Mining only
Chronic leukemia (category)	Leukemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic otitis media	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	28680405		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	23820270, 29725003, 30410494		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	23820270		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	37950620	Associate	★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of thymus	Congenital Hypoplasia Of Thymus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital neutropenia	Congenital Neutropenia	BEFREE	16804117, 30124469		★☆☆☆☆ Found in Text Mining only
Congenital neutropenia	Congenital Neutropenia	GENOMICS_ENGLAND_DG	16804117		★☆☆☆☆ Found in Text Mining only
Congenital thrombocytopenia	Congenital thrombocytopenia	BEFREE	25633059, 8528198, 8528199		★☆☆☆☆ Found in Text Mining only
Congenital thrombocytopenia	Congenital thrombocytopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conjunctivitis	Conjunctivitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic	Atopic dermatitis	Pubtator	11800140	Associate	★☆☆☆☆ Found in Text Mining only
Deuteranomaly	Deuteranomaly	BEFREE	29052091		★☆☆☆☆ Found in Text Mining only
Eclampsia	Eclampsia	BEFREE	24125947		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	Pubtator	11800140, 12969986, 24369837, 29358862	Associate	★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	12969986, 23023736, 24369837		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	Pubtator	37478401	Inhibit	★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	28087250, 28190698		★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	26662304		★☆☆☆☆ Found in Text Mining only
Feeding Disorders	Feeding Disorders	BEFREE	28583800		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	27225241		★☆☆☆☆ Found in Text Mining only
Gilles de la Tourette syndrome	Tourette Syndrome	BEFREE	30689342		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	17934890		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	31354712	Associate	★☆☆☆☆ Found in Text Mining only
Hallucinations	Hallucinations	BEFREE	28680405		★☆☆☆☆ Found in Text Mining only
Hematopoietic Neoplasms	Hematopoietic Neoplasms	BEFREE	22837718, 29316027		★☆☆☆☆ Found in Text Mining only
Hemorrhagic Disorders	Hemorrhagic disease	Pubtator	37478401	Associate	★☆☆☆☆ Found in Text Mining only
Hyperostosis	Hyperostosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune System Diseases	BEFREE	9126958		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	15383456, 17312144, 23820270, 30393584		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	28680405, 29935939, 30689342		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	18654788, 23820270, 29358862, 30410494		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	29358862	Associate	★☆☆☆☆ Found in Text Mining only
Insulin-dependent diabetes mellitus secretory diarrhea syndrome	Insulin-Dependent Diabetes Mellitus Secretory Diarrhea Syndrome	BEFREE	10677306		★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal disease	Pubtator	12969986	Associate	★☆☆☆☆ Found in Text Mining only
Intracranial Hemorrhages	Intracranial hemorrhage	Pubtator	12969986	Associate	★☆☆☆☆ Found in Text Mining only
Iron deficiency anemia	Iron deficiency anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Iron-Refractory Iron Deficiency Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Juvenile Myelomonocytic Leukemia	Myelomonocytic Leukemia	BEFREE	29316027		★☆☆☆☆ Found in Text Mining only
Keratitis	Keratitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ki-1+ Anaplastic Large Cell Lymphoma	Anaplastic Lymphoma	BEFREE	27694894, 30510251		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	26175287, 30393584		★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	11877312, 15203732, 20513746, 25645939, 29316027, 30130528		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	17020969		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	GENOMICS_ENGLAND_DG	28297620		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	30510251		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	15749859, 18509249, 23535410, 23911287		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	30353690		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12969986, 15749859, 17020969, 26993433, 29022901, 29845225, 30393584		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	23820270		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	23911287		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	31543247		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	33135633	Associate	★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	BEFREE	31715263		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	29134767, 29495967, 29761015, 30024443, 30235965		★☆☆☆☆ Found in Text Mining only
Myelodysplasia	Myelodysplasia	BEFREE	20354175		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	20354175, 30393584		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	29022901		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15749859, 19351959, 23911287, 24369837, 27694894, 30393584, 30510251		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural tube defect	Pubtator	20354175	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	21603976		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	BEFREE	11877312, 15203732, 20513746, 25645939, 29316027		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	LHGDN	16804117		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neutropenia Severe Congenital Autosomal Recessive 3	Severe congenital neutropenia	Pubtator	21891829, 23454784	Associate	★☆☆☆☆ Found in Text Mining only
Neutropenia, Severe Congenital, X-Linked	Neutropenia	CLINVAR_DG	10202051, 11442475, 11793485, 12969986, 15284122, 17213309, 19817875, 20173115, 20959042, 21185603, 22426750, 22523910, 22679904, 23033889, 25332606, 25476427, 25792466, 25931402, 26261240, 27264129, 28623282, 28931895, 7579347, 8528198, 8528199, 8595430, 8682510, 8931701, 9326235		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neutropenia, Severe Congenital, X-Linked	Neutropenia	GENOMICS_ENGLAND_DG	11167787, 16804117, 17400488		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neutropenia, Severe Congenital, X-Linked	Neutropenia	BEFREE	11242115		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neutropenia, Severe Congenital, X-Linked	Neutropenia	ORPHANET_DG	11242115		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neutropenia, Severe Congenital, X-Linked	Neutropenia	UNIPROT_DG	11242115		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neutropenia, Severe Congenital, X-Linked	Neutropenia	CTD_human_DG	17724125		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	16936704, 30689342		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	12617697		★☆☆☆☆ Found in Text Mining only
Otitis Media	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pancreatitis, Chronic	Pancreatitis	BEFREE	26505163		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	28809934		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Primary immune deficiency disorder	immunodeficiency	BEFREE	20689099, 24369837, 31047647, 31604087		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	16936704, 30689342		★☆☆☆☆ Found in Text Mining only
Purpura, Thrombotic Thrombocytopenic	Thrombotic thrombocytopenic purpura	BEFREE	23237501		★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	34187205	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	28648819, 28680405, 30219209		★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency	Pubtator	22927353, 30564228	Associate	★☆☆☆☆ Found in Text Mining only
Sinusitis	Sinusitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Situs Inversus	Situs Inversus	BEFREE	26937033, 31114576		★☆☆☆☆ Found in Text Mining only
Small vessel vasculitis	Small vessel vasculitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Specific learning disability	Specific Learning Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spontaneous hematomas	Hematomas	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	28914471		★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	30393584, 30510251		★☆☆☆☆ Found in Text Mining only
Thrombocytopenia	Thrombocytopenia	Pubtator	10590061, 11877312, 26502776	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thrombocytopenia	Thrombocytopenia	Pubtator	32503528	Stimulate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thrombocytopenia 1	Thrombocytopenia	Pubtator	10583210, 11877312, 12969986, 15001467, 15284122, 20130240, 25200405, 25253772, 26277674, 29358862, 9616151	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
THROMBOCYTOPENIA 1 (disorder)	Thrombocytopenia	CLINVAR_DG	10202051, 10575547, 11442475, 11793485, 12591280, 12969986, 14612666, 15284122, 16562789, 17213309, 19817875, 20173115, 20959042, 21185603, 22426750, 22523910, 22679904, 23033889, 23160469, 25332606, 25476427, 25792466, 25931402, 26261240, 27264129, 28623282, 28931895, 7579347, 8528198, 8528199, 8595430, 8682510, 8931701, 9326235		★☆☆☆☆ Found in Text Mining only
THROMBOCYTOPENIA 1 (disorder)	Thrombocytopenia	UNIPROT_DG	10447259, 11167787, 11877312, 7795648, 8528199		★☆☆☆☆ Found in Text Mining only
THROMBOCYTOPENIA 1 (disorder)	Thrombocytopenia	BEFREE	10583210, 10729999, 11167787, 11877312, 12367583, 12969986, 14612666, 15001467, 15203732, 15284122, 15469902, 17390083, 17703096, 18043243, 19351959, 20232122, 25200405, 26175287, 27539096, 27647820, 28641574, 28892757, 29215267, 29248492, 29358862, 30130528, 30690404, 30861005, 31793770, 7795648, 8528199, 8682510, 8743175, 8757563, 9326235, 9616151, 9713366		★☆☆☆☆ Found in Text Mining only
THROMBOCYTOPENIA 1 (disorder)	Thrombocytopenia	GENOMICS_ENGLAND_DG	11167787, 16804117, 17400488		★☆☆☆☆ Found in Text Mining only
THROMBOCYTOPENIA 1 (disorder)	Thrombocytopenia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Thrombocytopenia, X-Linked, Intermittent	Thrombocytopenia, X-Linked	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ulcerative Colitis	Ulcerative colitis	BEFREE	18654788		★☆☆☆☆ Found in Text Mining only
Urticaria	Urticaria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vasculitis of large artery	Vasculitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Wiskott-Aldrich Syndrome	Wiskott-Aldrich Syndrome	BEFREE	10066431, 10068673, 10202051, 10447259, 10455421, 10570326, 10583210, 10653325, 10677306, 10706671, 10729999, 10737997, 10878391, 11213795, 11290809, 11298372, 11442475, 11753102, 11793485, 11877312, 12067437, 12149199, 12196287, 12351383, 12367583, 12894849, 12969986, 14612666, 14636648, 15203732, 15308573, 15383456, 15469902, 15616597, 15654828, 16511828, 16630926, 16939809, 17213309, 17312144, 17390083, 17690954, 17890224, 18043243, 18090932, 19018480, 19307326, 19351959, 19654965, 20182458, 20232122, 20546529, 20683686, 21178275, 21185603, 22215016, 22231303, 23023736, 23141740, 23264413, 23324327, 23689198, 23786330, 23845947, 24369837, 24402308, 24440360, 25200405, 25633059, 25728049, 25864580, 26175287, 26993433, 27170596, 28901403, 29215267, 29248492, 29316027, 29358862, 29421274, 29447842, 30393584, 30539652, 31047647, 31604087, 7565724, 7579329, 7753869, 7795648, 8069912, 8528198, 8528199, 8625410, 8666397, 8743175, 8988230, 9024694, 9126958, 9326235, 9338585, 9683546, 9713366, 9801262		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Wiskott-Aldrich Syndrome	Wiskott-Aldrich Syndrome	CLINVAR_DG	10202051, 10447259, 11298372, 11442475, 11793485, 12437929, 12727931, 12969986, 14504083, 14612666, 15284122, 16091449, 16638962, 17213309, 17390083, 18162713, 19817875, 20173115, 20959042, 21185603, 21771083, 22426750, 22523910, 22679904, 23033889, 24210885, 25332606, 25476427, 25792466, 25931402, 26261240, 27264129, 28623282, 28931895, 7579347, 8069912, 8528198, 8528199, 8595430, 8682510, 8931701, 9326235		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Wiskott-Aldrich Syndrome	Wiskott-Aldrich Syndrome	UNIPROT_DG	10447259, 11793485, 20574068, 7753869, 8528198, 8528199, 8682510, 9098856, 9126958, 9445409, 9683546, 9713366		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Wiskott-Aldrich Syndrome	Wiskott-Aldrich Syndrome	CLINGEN_DG	10653325, 14566484, 17065640, 17250667, 23868979, 8069912, 9697838		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Wiskott-Aldrich Syndrome	Wiskott-Aldrich Syndrome	GENOMICS_ENGLAND_DG	11167787, 16804117, 17400488		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Wiskott-Aldrich Syndrome	Wiskott-Aldrich Syndrome	CTD_human_DG	11598004		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Wiskott-Aldrich Syndrome	Wiskott-Aldrich Syndrome	LHGDN	11793485, 12073025, 12135674, 12235133, 12351383, 12429845, 12727931, 12969986, 15821030, 16002738, 16285728, 16372137, 16804117, 17390083, 17400488, 17703096, 18043243, 18654788, 18948384, 18995840		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Wiskott-Aldrich Syndrome	Wiskott-Aldrich Syndrome	ORPHANET_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Wiskott-Aldrich syndrome	Wiskott-Aldrich Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
X-Linked Combined Immunodeficiency Diseases	Combined Immunodeficiency, X-Linked	BEFREE	11793485		★☆☆☆☆ Found in Text Mining only
X-linked severe congenital neutropenia	Severe Congenital Neutropenia, X-Linked	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
X-linked thrombocytopenia with normal platelets	Thrombocytopenia With Normal Platelets, X-Linked	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations