FANCM (FA complementation group M)

Gene

• Entrez ID: 57697
• Gene name: FA complementation group M
• Gene symbol: FANCM
• Synonyms (NCBI Gene): FAAP250, KIAA1596, POF15, SPGF28
• Chromosome: 14
• Chromosome location: 14q21.2
• Summary: The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FAN

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs61753893	A>G	Conflicting-interpretations-of-pathogenicity, benign	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, missense variant
rs142864437	A>C,G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs144215747	C>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
rs144567652	C>A,T	Uncertain-significance, pathogenic	Stop gained, synonymous variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant, intron variant
rs146897650	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, downstream transcript variant, missense variant
rs147021911	C>T	Pathogenic, likely-pathogenic, risk-factor	Stop gained, genic downstream transcript variant, coding sequence variant, non coding transcript variant, downstream transcript variant
rs200173413	A>C,G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant
rs762570903	CTCT>-,CT,CTCTCT	Pathogenic	Genic downstream transcript variant, stop gained, frameshift variant, non coding transcript variant, coding sequence variant
rs768006618	AAAA>-,AAAAA	Likely-pathogenic, uncertain-significance	Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs797045116	->A	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic upstream transcript variant
rs1375421660	AT>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant
rs1555361990	G>-	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1555363275	CAGAGAAGCCTTC>-	Pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1555365959	A>G	Pathogenic	Genic downstream transcript variant, intron variant
rs1566761441	G>T	Pathogenic	Genic downstream transcript variant, non coding transcript variant, stop gained, coding sequence variant
rs1566764032	G>T	Pathogenic	Genic downstream transcript variant, non coding transcript variant, stop gained, coding sequence variant
rs1566766719	->G	Pathogenic	Genic downstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant
rs1566775496	C>G	Pathogenic	Genic downstream transcript variant, non coding transcript variant, stop gained, coding sequence variant
rs1594810654	TTTT>CAACTTTCCTCATTACTTGACTCAACATTACTTGACTCAACTCAACTC	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant, inframe indel, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016474	hsa-miR-193b-3p	Microarray	20304954
MIRT026567	hsa-miR-192-5p	Microarray	19074876
MIRT695957	hsa-miR-122-3p	HITS-CLIP	23313552
MIRT695956	hsa-miR-1247-3p	HITS-CLIP	23313552
MIRT695955	hsa-miR-4532	HITS-CLIP	23313552
MIRT695954	hsa-miR-4722-3p	HITS-CLIP	23313552
MIRT695953	hsa-miR-6727-3p	HITS-CLIP	23313552
MIRT695952	hsa-miR-6747-3p	HITS-CLIP	23313552
MIRT695951	hsa-miR-1976	HITS-CLIP	23313552
MIRT695949	hsa-miR-4268	HITS-CLIP	23313552
MIRT695950	hsa-miR-4448	HITS-CLIP	23313552
MIRT695948	hsa-miR-6772-3p	HITS-CLIP	23313552
MIRT551967	hsa-miR-4803	PAR-CLIP	21572407
MIRT070052	hsa-miR-519a-3p	PAR-CLIP	21572407
MIRT070051	hsa-miR-519b-3p	PAR-CLIP	21572407
MIRT070050	hsa-miR-519c-3p	PAR-CLIP	21572407
MIRT070055	hsa-miR-580-5p	PAR-CLIP	21572407
MIRT070060	hsa-miR-3120-3p	PAR-CLIP	21572407
MIRT070064	hsa-miR-3908	PAR-CLIP	21572407
MIRT551966	hsa-miR-4795-5p	PAR-CLIP	21572407
MIRT070058	hsa-miR-889-3p	PAR-CLIP	21572407
MIRT070062	hsa-miR-3616-5p	PAR-CLIP	21572407
MIRT070054	hsa-miR-573	PAR-CLIP	21572407
MIRT695957	hsa-miR-122-3p	HITS-CLIP	23313552
MIRT695956	hsa-miR-1247-3p	HITS-CLIP	23313552
MIRT695955	hsa-miR-4532	HITS-CLIP	23313552
MIRT695954	hsa-miR-4722-3p	HITS-CLIP	23313552
MIRT695953	hsa-miR-6727-3p	HITS-CLIP	23313552
MIRT695952	hsa-miR-6747-3p	HITS-CLIP	23313552
MIRT695951	hsa-miR-1976	HITS-CLIP	23313552
MIRT695949	hsa-miR-4268	HITS-CLIP	23313552
MIRT695950	hsa-miR-4448	HITS-CLIP	23313552
MIRT695948	hsa-miR-6772-3p	HITS-CLIP	23313552
MIRT551967	hsa-miR-4803	PAR-CLIP	21572407
MIRT070052	hsa-miR-519a-3p	PAR-CLIP	21572407
MIRT070051	hsa-miR-519b-3p	PAR-CLIP	21572407
MIRT070050	hsa-miR-519c-3p	PAR-CLIP	21572407
MIRT070055	hsa-miR-580-5p	PAR-CLIP	21572407
MIRT070060	hsa-miR-3120-3p	PAR-CLIP	21572407
MIRT070064	hsa-miR-3908	PAR-CLIP	21572407
MIRT551966	hsa-miR-4795-5p	PAR-CLIP	21572407
MIRT070058	hsa-miR-889-3p	PAR-CLIP	21572407
MIRT070062	hsa-miR-3616-5p	PAR-CLIP	21572407
MIRT070054	hsa-miR-573	PAR-CLIP	21572407
MIRT989199	hsa-miR-146a	CLIP-seq
MIRT989200	hsa-miR-146b-5p	CLIP-seq
MIRT989201	hsa-miR-21	CLIP-seq
MIRT989202	hsa-miR-2110	CLIP-seq
MIRT989203	hsa-miR-2467-3p	CLIP-seq
MIRT989204	hsa-miR-3074-3p	CLIP-seq
MIRT989205	hsa-miR-31	CLIP-seq
MIRT989206	hsa-miR-3125	CLIP-seq
MIRT989207	hsa-miR-3144-5p	CLIP-seq
MIRT989208	hsa-miR-3150a-3p	CLIP-seq
MIRT989209	hsa-miR-3158-5p	CLIP-seq
MIRT989210	hsa-miR-3163	CLIP-seq
MIRT989211	hsa-miR-3191	CLIP-seq
MIRT989212	hsa-miR-340	CLIP-seq
MIRT989213	hsa-miR-34a	CLIP-seq
MIRT989214	hsa-miR-34c-5p	CLIP-seq
MIRT989215	hsa-miR-361-5p	CLIP-seq
MIRT989216	hsa-miR-3647-5p	CLIP-seq
MIRT989217	hsa-miR-3678-3p	CLIP-seq
MIRT989218	hsa-miR-3692	CLIP-seq
MIRT989219	hsa-miR-3916	CLIP-seq
MIRT989220	hsa-miR-3925-5p	CLIP-seq
MIRT989221	hsa-miR-4418	CLIP-seq
MIRT989222	hsa-miR-449a	CLIP-seq
MIRT989223	hsa-miR-449b	CLIP-seq
MIRT989224	hsa-miR-4652-5p	CLIP-seq
MIRT989225	hsa-miR-509-3-5p	CLIP-seq
MIRT989226	hsa-miR-509-5p	CLIP-seq
MIRT989227	hsa-miR-519a	CLIP-seq
MIRT989228	hsa-miR-548aa	CLIP-seq
MIRT989229	hsa-miR-590-5p	CLIP-seq
MIRT989230	hsa-miR-659	CLIP-seq
MIRT989231	hsa-miR-759	CLIP-seq
MIRT989232	hsa-miR-889	CLIP-seq
MIRT1993111	hsa-miR-101	CLIP-seq
MIRT1993112	hsa-miR-128	CLIP-seq
MIRT1993113	hsa-miR-1910	CLIP-seq
MIRT1993114	hsa-miR-27a	CLIP-seq
MIRT1993115	hsa-miR-27b	CLIP-seq
MIRT1993116	hsa-miR-3122	CLIP-seq
MIRT989208	hsa-miR-3150a-3p	CLIP-seq
MIRT1993117	hsa-miR-3153	CLIP-seq
MIRT1993118	hsa-miR-3175	CLIP-seq
MIRT1993119	hsa-miR-3652	CLIP-seq
MIRT1993120	hsa-miR-3913-5p	CLIP-seq
MIRT1993121	hsa-miR-4430	CLIP-seq
MIRT1993122	hsa-miR-4471	CLIP-seq
MIRT1993123	hsa-miR-4505	CLIP-seq
MIRT1993124	hsa-miR-4667-5p	CLIP-seq
MIRT1993125	hsa-miR-4668-5p	CLIP-seq
MIRT1993126	hsa-miR-4700-5p	CLIP-seq
MIRT1993127	hsa-miR-4709-5p	CLIP-seq
MIRT1993128	hsa-miR-4731-5p	CLIP-seq
MIRT1993129	hsa-miR-4775	CLIP-seq
MIRT1993130	hsa-miR-590-3p	CLIP-seq
MIRT1993131	hsa-miR-939	CLIP-seq
MIRT2227029	hsa-miR-1275	CLIP-seq
MIRT1993112	hsa-miR-128	CLIP-seq
MIRT1993113	hsa-miR-1910	CLIP-seq
MIRT989202	hsa-miR-2110	CLIP-seq
MIRT1993114	hsa-miR-27a	CLIP-seq
MIRT1993115	hsa-miR-27b	CLIP-seq
MIRT989204	hsa-miR-3074-3p	CLIP-seq
MIRT989207	hsa-miR-3144-5p	CLIP-seq
MIRT989208	hsa-miR-3150a-3p	CLIP-seq
MIRT1993118	hsa-miR-3175	CLIP-seq
MIRT989211	hsa-miR-3191	CLIP-seq
MIRT989215	hsa-miR-361-5p	CLIP-seq
MIRT1993119	hsa-miR-3652	CLIP-seq
MIRT1993121	hsa-miR-4430	CLIP-seq
MIRT1993122	hsa-miR-4471	CLIP-seq
MIRT1993123	hsa-miR-4505	CLIP-seq
MIRT2227030	hsa-miR-4525	CLIP-seq
MIRT989224	hsa-miR-4652-5p	CLIP-seq
MIRT2227031	hsa-miR-4665-5p	CLIP-seq
MIRT1993124	hsa-miR-4667-5p	CLIP-seq
MIRT1993126	hsa-miR-4700-5p	CLIP-seq
MIRT2227032	hsa-miR-4723-5p	CLIP-seq
MIRT1993128	hsa-miR-4731-5p	CLIP-seq
MIRT2227033	hsa-miR-4773	CLIP-seq
MIRT2227034	hsa-miR-625	CLIP-seq
MIRT989230	hsa-miR-659	CLIP-seq
MIRT1993131	hsa-miR-939	CLIP-seq
MIRT1993112	hsa-miR-128	CLIP-seq
MIRT1993113	hsa-miR-1910	CLIP-seq
MIRT1993114	hsa-miR-27a	CLIP-seq
MIRT1993115	hsa-miR-27b	CLIP-seq
MIRT989208	hsa-miR-3150a-3p	CLIP-seq
MIRT1993118	hsa-miR-3175	CLIP-seq
MIRT1993119	hsa-miR-3652	CLIP-seq
MIRT1993121	hsa-miR-4430	CLIP-seq
MIRT1993123	hsa-miR-4505	CLIP-seq
MIRT1993124	hsa-miR-4667-5p	CLIP-seq
MIRT1993126	hsa-miR-4700-5p	CLIP-seq
MIRT1993128	hsa-miR-4731-5p	CLIP-seq
MIRT1993131	hsa-miR-939	CLIP-seq
MIRT1993112	hsa-miR-128	CLIP-seq
MIRT1993113	hsa-miR-1910	CLIP-seq
MIRT1993114	hsa-miR-27a	CLIP-seq
MIRT1993115	hsa-miR-27b	CLIP-seq
MIRT989208	hsa-miR-3150a-3p	CLIP-seq
MIRT1993118	hsa-miR-3175	CLIP-seq
MIRT1993119	hsa-miR-3652	CLIP-seq
MIRT1993121	hsa-miR-4430	CLIP-seq
MIRT1993123	hsa-miR-4505	CLIP-seq
MIRT1993124	hsa-miR-4667-5p	CLIP-seq
MIRT1993126	hsa-miR-4700-5p	CLIP-seq
MIRT1993128	hsa-miR-4731-5p	CLIP-seq
MIRT1993131	hsa-miR-939	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000400	Function	Four-way junction DNA binding	IBA
GO:0000712	Process	Resolution of meiotic recombination intermediates	IMP	20347428
GO:0000785	Component	Chromatin	IDA	20347429
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IDA	20347429
GO:0003724	Function	RNA helicase activity	IEA
GO:0004386	Function	Helicase activity	IEA
GO:0004518	Function	Nuclease activity	IEA
GO:0005515	Function	Protein binding	IPI	17289582, 20347429, 23932590, 25416956, 32296183, 32769987, 33961781
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005829	Component	Cytosol	TAS
GO:0006281	Process	DNA repair	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0009378	Function	Four-way junction helicase activity	IBA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0031297	Process	Replication fork processing	IMP	20347428
GO:0035825	Process	Homologous recombination	IEA
GO:0036297	Process	Interstrand cross-link repair	IBA
GO:0036297	Process	Interstrand cross-link repair	IDA	20347429
GO:0043138	Function	3'-5' DNA helicase activity	IBA
GO:0043138	Function	3'-5' DNA helicase activity	IEA
GO:0043240	Component	Fanconi anaemia nuclear complex	IDA	20347428, 20347429
GO:0045003	Process	Double-strand break repair via synthesis-dependent strand annealing	IBA
GO:0071821	Component	FANCM-MHF complex	IDA	20347428
GO:0071821	Component	FANCM-MHF complex	IPI	20347429
GO:1902527	Process	Positive regulation of protein monoubiquitination	IMP	29231814

Other IDs

• MIM: 609644
• HGNC: 23168
• e!Ensembl: ENSG00000187790

Protein

• UniProt ID: Q8IYD8
• Protein name: Fanconi anemia group M protein (Protein FACM) (EC 3.6.4.13) (ATP-dependent RNA helicase FANCM) (Fanconi anemia-associated polypeptide of 250 kDa) (FAAP250) (Protein Hef ortholog)
• Protein function: DNA-dependent ATPase component of the Fanconi anemia (FA) core complex (PubMed:16116422). Required for the normal activation of the FA pathway, leading to monoubiquitination of the FANCI-FANCD2 complex in response to DNA damage, cellular resista
• PDB: 4BXO, 4DAY, 4DRB, 4E45, 4M6W
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04851	ResIII	88 → 250	Type III restriction enzyme, res subunit	Family
  PF00271	Helicase_C	456 → 581	Helicase conserved C-terminal domain	Family
  PF16783	FANCM-MHF_bd	675 → 790	FANCM to MHF binding domain	Domain
  PF02732	ERCC4	1826 → 1948	ERCC4 domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in germ cells of fetal and adult ovaries. In fetal ovaries, it is present in oogonia but expression is stronger in pachytene stage oocytes. Expressed in oocytes arrested at the diplotene stage of prophase I during the last tr
• Sequence:

  MSGRQRTLFQTWGSSISRSSGTPGCSSGTERPQSPGSSKAPLPAAAEAQLESDDDVLLVA
  AYEAERQLCLENGGFCTSAGALWIYPTNCPVRDYQLHISRAALFCNTLVCLPTGLGKTFI
  AAVVMYNFYRWFPSGKVVFMAPTKPLVTQQIEACYQVMGIPQSHMAEMTGSTQASTRKEI
  WCSKRVLFLTPQVMVNDLSRGACPAAEIKCLVIDEAHKALGNYAYCQVVRELVKYTNHFR
  ILALSATPGSDIKAVQQVITNLLIGQIELRSEDSPDILTYSHERKVEKLIVPLGEELAAI
  QKTYIQILESFARSLIQRNVLMRRDIPNLTKYQIILARDQFRKNPSPNIVGIQQGIIEGE
  FAICISLYHGYELLQQMGMRSLYFFLCGIMDGTKGMTRSKNELGRNEDFMKLYNHLECMF
  ARTRSTSANGISAIQQGDKNKKFVYSHPKLKKLEEVVIEHFKSWNAENTTEKKRDETRVM
  IFSSFRDSVQEIAEMLSQHQPIIRVMTFVGHASGKSTKGFTQKEQLEVVKQFRDGGYNTL
  VSTCVGEEGLDIGEVDLIICFDSQKSPIRLVQRMGRTGRKRQGRIVIILSEGREERIYNQ
  SQSNKRSIYKAISSNRQVLHFYQRSPRMVPDGINPKLHKMFITHGVYEPEKPSRNLQRKS
  SIFSYRDGMRQSSLKKDWFLSEEEFKLWNRLYRLRDSDEIKEITLPQVQFSSLQNEENKP
  AQESTTGIHQLSLSEWRLWQDHPLPTHQVDHSDRCRHFIGLMQMIEGMRHEEGECSYELE
  VESYLQMEDVTSTFIAPRNESNNLASDTFITHKKSSFIKNINQGSSSSVIESDEECAEIV
  KQTHIKPTKIVSLKKKVSKEIKKDQLKKENNHGIIDSVDNDRNSTVENIFQEDLPNDKRT
  SDTDEIAATCTINENVIKEPCVLLTECQFTNKSTSSLAGNVLDSGYNSFNDEKSVSSNLF
  LPFEEELYIVRTDDQFYNCHSLTKEVLANVERFLSYSPPPLSGLSDLEYEIAKGTALENL
  LFLPCAEHLRSDKCTCLLSHSAVNSQQNLELNSLKCINYPSEKSCLYDIPNDNISDEPSL
  CDCDVHKHNQNENLVPNNRVQIHRSPAQNLVGENNHDVDNSDLPVLSTDQDESLLLFEDV
  NTEFDDVSLSPLNSKSESLPVSDKTAISETPLVSQFLISDELLLDNNSELQDQITRDANS
  FKSRDQRGVQEEKVKNHEDIFDCSRDLFSVTFDLGFCSPDSDDEILEHTSDSNRPLDDLY
  GRYLEIKEISDANYVSNQALIPRDHSKNFTSGTVIIPSNEDMQNPNYVHLPLSAAKNEEL
  LSPGYSQFSLPVQKKVMSTPLSKSNTLNSFSKIRKEILKTPDSSKEKVNLQRFKEALNST
  FDYSEFSLEKSKSSGPMYLHKSCHSVEDGQLLTSNESEDDEIFRRKVKRAKGNVLNSPED
  QKNSEVDSPLHAVKKRRFPINRSELSSSDESENFPKPCSQLEDFKVCNGNARRGIKVPKR
  QSHLKHVARKFLDDEAELSEEDAEYVSSDENDESENEQDSSLLDFLNDETQLSQAINDSE
  MRAIYMKSLRSPMMNNKYKMIHKTHKNINIFSQIPEQDETYLEDSFCVDEEESCKGQSSE
  EEVCVDFNLITDDCFANSKKYKTRRAVMLKEMMEQNCAHSKKKLSRIILPDDSSEEENNV
  NDKRESNIAVNPSTVKKNKQQDHCLNSVPSGSSAQSKVRSTPRVNPLAKQSKQTSLNLKD
  TISEVSDFKPQNHNEVQSTTPPFTTVDSQKDCRKFPVPQKDGSALEDSSTSGASCSKSRP
  HLAGTHTSLRLPQEGKGTCILVGGHEITSGLEVISSLRAIHGLQVEVCPLNGCDYIVSNR
  MVVERRSQSEMLNSVNKNKFIEQIQHLQSMFERICVIVEKDREKTGDTSRMFRRTKSYDS
  LLTTLIGAGIRILFSSCQEETADLLKELSLVEQRKNVGIHVPTVVNSNKSEALQFYLSIP
  NISYITALNMCHQFSSVKRMANSSLQEISMYAQVTHQKAEEIYRYIHYVFDIQMLPNDLN
  QDRLKSDI

• Sequence length: 2048

Pathways

KEGG:

Fanconi anemia pathway

Reactome:

Fanconi Anemia Pathway

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
Azoospermia	Likely pathogenic; Pathogenic	rs144567652	RCV001797115	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial cancer of breast	Likely pathogenic; Pathogenic	rs147021911, rs144567652	RCV001250424 RCV001250442	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
FANCM-related disorder	Likely pathogenic; Pathogenic	rs1566783809, rs1213350464, rs1885521004, rs758498345, rs759378949, rs1885473805, rs978210562, rs147021911, rs368728266, rs768006618, rs374626826	RCV004528499 RCV004536195 RCV004728940 RCV004538596 RCV004725418 RCV004536729 RCV004529302 RCV004737537 RCV004737581 RCV004737936 RCV004528375	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fanconi anemia	Likely pathogenic; Pathogenic	rs751795256, rs2139106255, rs2139106358, rs2139151883, rs1886630094, rs2139186499, rs762570903, rs1888447684, rs778191984, rs2139249281, rs746983128, rs776133776, rs751954386, rs1227066484, rs1405059699, rs1478392446, rs764534989, rs2139297782, rs1566783809, rs1594481199, rs2139244126, rs1324635932, rs747974206, rs373430198, rs2139186964, rs902753970, rs2139099848, rs1566775922, rs2139252496, rs1885521004, rs1235515288, rs2139248770, rs777996811, rs1890046687, rs140760056, rs758498345, rs1216266838, rs1404537579, rs372276411, rs1467556424, rs1159078705, rs768006618, rs1888623566, rs2139291763, rs1566762159, rs2139235421, rs1034818403, rs1889085249, rs2139214355, rs1594792135, rs1887832125, rs1354153410, rs1887394029, rs2139103778, rs2503106913, rs2503172927, rs1888636005, rs753179766, rs2503040034, rs2503188648, rs2503195017, rs778176467, rs930692973, rs2503085082, rs2503246700, rs2503213341, rs1486766153, rs1323969534, rs1888737946, rs764743944, rs1888277669, rs797045116, rs2503213449, rs2503123056, rs2503102948, rs1313143328, rs2503213372, rs1889609465, rs759378949, rs2503122151, rs755309416, rs2503110158, rs2503271370, rs755094018, rs1203548373, rs2503162667, rs2503238068, rs2503247331, rs2503181309, rs2503180084, rs2503084712, rs2503193129, rs1566765375, rs2547654457, rs2503185723, rs779792989, rs2503196861, rs2503279758, rs755947203, rs2139319836, rs2503244893, rs2503280177, rs2503271575, rs1030580842, rs2503163014, rs147021911, rs368728266, rs1166587869, rs1447482674, rs144567652, rs1566790465, rs1555364837, rs1270367757, rs1156577591, rs903442271, rs1566766719, rs765686151, rs778744393, rs1594810556, rs754297345, rs1594810654, rs1885850135, rs552052505, rs1887822022, rs773014744, rs374626826, rs1383262366, rs1888605629, rs1888681090, rs1888718087, rs757391108, rs1566782962, rs1379375089, rs1885847871, rs1209536013, rs1340295590, rs1889219103, rs1889569618, rs1888023074, rs778451008, rs1203346034, rs1011870043, rs1886997142	RCV001389938 RCV001387276 RCV001384435 RCV001387570 RCV001385361 RCV001385342 RCV001387921 RCV001384745 RCV001384271 RCV001381289 RCV001382035 RCV001385667 RCV001380939 RCV001380593 RCV001383880 RCV001388064 RCV001382362 RCV001380036 RCV001388818 RCV001387500 RCV002568275 RCV003523100 RCV001965362 RCV001966317 RCV001945326 RCV001961522 RCV001947770 RCV001938169 RCV001893178 RCV001954597 RCV001931111 RCV001884529 RCV001967617 RCV002035375 RCV001993204 RCV001912868 RCV001913877 RCV002007438 RCV001994869 RCV001972442 RCV001946984 RCV001936499 RCV001967676 RCV002014022 RCV001901339 RCV002001234 RCV001949350 RCV002018194 RCV001940429 RCV001975023 RCV002039926 RCV001892516 RCV001916493 RCV001957067 RCV003062629 RCV003065217 RCV003061594 RCV003070226 RCV003091980 RCV003089982 RCV002610417 RCV002599337 RCV002595280 RCV002607696 RCV002629996 RCV002624544 RCV002629379 RCV003121287 RCV002578307 RCV002579847 RCV002596873 RCV002589414 RCV001206024 RCV002797232 RCV002866739 RCV002866093 RCV002857859 RCV002881224 RCV002914184 RCV002937698 RCV002923612 RCV002949008 RCV003777404 RCV003523259 RCV003522160 RCV003525073 RCV003525077 RCV003525089 RCV003524873 RCV003523625 RCV003523534 RCV003524466 RCV003522829 RCV003636106 RCV003637230 RCV003637638 RCV003637933 RCV003638072 RCV003635669 RCV003636635 RCV003636713 RCV003637395 RCV003822247 RCV003828034 RCV003853698 RCV003864387 RCV003870991 RCV003879688 RCV000456962 RCV000705743 RCV000557989 RCV000547908 RCV000630904 RCV000800840 RCV000696857 RCV000700187 RCV002535028 RCV001387795 RCV001862117 RCV001941668 RCV000807702 RCV000814158 RCV000810762 RCV000816054 RCV002551724 RCV001039182 RCV001042509 RCV001066647 RCV001040062 RCV001070935 RCV001062579 RCV001048780 RCV001043562 RCV001048639 RCV001045406 RCV001067571 RCV001041845 RCV001065724 RCV001220858 RCV001212264 RCV001205878 RCV001209303 RCV001237908 RCV001231918 RCV001233984 RCV001240097 RCV001234488	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fanconi anemia complementation group A	Likely pathogenic; Pathogenic	rs147021911	RCV000989212	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary breast ovarian cancer syndrome	Likely pathogenic	rs762570903, rs752136594	RCV001030475 RCV001030479	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary cancer-predisposing syndrome	Likely pathogenic; Pathogenic	rs1034818403, rs368728266, rs768006618, rs1011870043	RCV002258344 RCV002256327 RCV002257920 RCV002258173	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary nonpolyposis colorectal carcinoma	Likely pathogenic; Pathogenic	rs144567652	RCV002245059	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Male infertility with azoospermia or oligozoospermia due to single gene mutation	Likely pathogenic; Pathogenic	rs797045116	RCV003991575	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Male infertility with spermatogenesis disorder	Likely pathogenic; Pathogenic	rs147021911	RCV003991578	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant germ cell tumor of ovary	Likely pathogenic; Pathogenic	rs144567652	RCV000722040	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Premature ovarian failure 15	Likely pathogenic; Pathogenic	rs2139186499, rs797045116, rs759378949, rs2503084712, rs147021911, rs368728266, rs144567652, rs768006618, rs1889219103	RCV005395005 RCV006249370 RCV004595677 RCV005003676 RCV000678209 RCV005010460 RCV004595521 RCV005010639 RCV003462691	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinoblastoma	Likely pathogenic	rs1375421660	RCV000761170	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spermatogenic failure 28	Likely pathogenic; Pathogenic	rs2139186499, rs797045116, rs2503084712, rs147021911, rs368728266, rs144567652, rs768006618, rs1555365959, rs1555363275, rs1888281367	RCV005395005 RCV000677275 RCV005003676 RCV000677276 RCV001293940 RCV000677277 RCV002248851 RCV000677274 RCV000677278 RCV001293942	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aplastic anemia	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FANCM FANCONI-LIKE GENOMIC INSTABILITY DISORDER	—	ClinGen, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FANCONI ANEMIA COMPLEMENTATION GROUP M	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FANCONI ANEMIA, COMPLEMENTATION GROUP A	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fanconi anemia, complementation group M	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Germ cell tumor of testis	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatoblastoma	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY BREAST CARCINOMA	—	ClinGen, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary cancer	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute monocytic leukemia	Monocytic Leukemia	GENOMICS_ENGLAND_DG	28297620		★☆☆☆☆ Found in Text Mining only
Alternating hemiplegia of childhood	Alternating hemiplegia of childhood	Pubtator	31138797	Inhibit	★☆☆☆☆ Found in Text Mining only
Anemia Hemolytic	Hemolytic anemia	Pubtator	20160754, 22510687	Associate	★☆☆☆☆ Found in Text Mining only
Anus, Imperforate	Imperforate anus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Astigmatism	Astigmatism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	BEFREE	30075111		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Azoospermia	Azoospermia	Pubtator	35172124	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Azoospermia	Azoospermia	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Azoospermia Nonobstructive	Nonobstructive azoospermia	Pubtator	36017582	Associate	★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bloom Syndrome	Bloom Syndrome	BEFREE	20064455, 20064461, 22392978		★☆☆☆☆ Found in Text Mining only
Bloom Syndrome	Bloom syndrome	Pubtator	20064455, 22392978	Associate	★☆☆☆☆ Found in Text Mining only
Bone Marrow Failure Disorders	Bone marrow failure syndromes	Pubtator	37450374	Associate	★☆☆☆☆ Found in Text Mining only
Breast Cancer, Familial	Breast Cancer	BEFREE	19737859, 26130695, 28033443, 28702895, 30426508		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	19737859, 26130695, 27542569, 28033443, 28702895, 28837162, 29287190, 29351780, 29388117		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	25288723, 26130695, 27542569, 28033443, 28591191, 28702895, 28837162, 29231814, 29351780, 33118316, 34282249, 35353237, 36315097, 36835452	Associate	★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	30779244		★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt lymphoma	Pubtator	30779244	Associate	★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cafe au lait spots, multiple	Cafe-au-lait spot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma of Male Breast	Breast Carcinoma, male	BEFREE	29287190		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	32113160	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	34331411	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	28033443, 29351780		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Choanal Atresia	Choanal Atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chordoma	Chordoma	Pubtator	37024492	Associate	★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	28007957		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	23585368, 27713038		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	33118316, 36356413	Associate	★☆☆☆☆ Found in Text Mining only
Congenital arteriovenous malformation	Congenital Arteriovenous Malformation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cranial nerve palsies	Cranial Nerve Paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	16116422, 18995830, 19423727, 19737859, 20064455, 20064461, 20160754, 20347418, 20670894, 20713514, 21975120, 22279085, 22392978, 22547783, 23698467, 24602044, 24699063, 26254775, 26341555, 26430909, 26593718, 26962873, 27351285, 28837157, 28837162, 30022024, 30714416, 31138797		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fanconi Anemia	Fanconi Anemia	CLINVAR_DG	16116422, 19423727, 25078778, 25288723, 26740942, 27542569		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fanconi Anemia	Fanconi Anemia	CTD_human_DG	16116422		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fanconi Anemia	Fanconi anemia	Pubtator	16116422, 19405097, 19423727, 20064455, 20347418, 20347429, 20670894, 22547783, 23698467, 23932590, 24003026, 24885126, 26825464, 27351285, 28837157, 35867033, 40447800	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fanconi Anemia	Fanconi Anemia	LHGDN	18995830		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fanconi anemia	Fanconi Anemia	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fanconi Anemia	Fanconi Anemia	GENOMICS_ENGLAND_DG	25078778, 28297620, 28376765, 28837157, 28837162		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	16116422, 18995830, 19423727, 19737859, 20064455, 20064461, 20347418, 20670894, 20713514, 21975120, 22392978, 22547783, 23698467, 24602044, 24699063, 26254775, 26341555, 26430909, 26593718, 26962873, 27351285, 28837157, 28837162, 30022024, 30714416, 31138797		★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	30306255, 30927251, 31882575, 33099839	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary pancreatitis	Pancreatitis	Pubtator	28687971	Associate	★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intestinal Polyposis	Intestinal polyposis	Pubtator	36356413	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	34067580	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	32868804	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GENOMICS_ENGLAND_DG	28297620		★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Long narrow head	Dolichocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Male infertility with azoospermia or oligozoospermia due to single gene mutation	Male infertility	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant Head and Neck Neoplasm	Head and neck cancer	GENOMICS_ENGLAND_DG	28376765		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	19737859, 26130695, 27542569, 28033443, 28702895, 28837162, 29287190, 29351780, 29388117		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	28033443, 29351780		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	20160754, 26341555, 28837157, 28837162, 30075111, 30306255		★☆☆☆☆ Found in Text Mining only
Malignant Ovarian Germ Cell Neoplasm	Malignant Ovarian Germ Cell Neoplasm	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	28007957		★☆☆☆☆ Found in Text Mining only
Meckel Diverticulum	Meckel Diverticulum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	28376765	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Miller Dieker syndrome	Miller Dieker Syndrome	GENOMICS_ENGLAND_DG	28297620		★☆☆☆☆ Found in Text Mining only
Myelodysplasia	Myelodysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	GENOMICS_ENGLAND_DG	28297620		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	36503307	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	26962873, 27542569, 30022024, 30714416		★☆☆☆☆ Found in Text Mining only
Non-obstructive azoospermia	Non-obstructive azoospermia	BEFREE	30075111		★☆☆☆☆ Found in Text Mining only
Non-obstructive azoospermia	Non-obstructive azoospermia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obstructive azoospermia	Obstructive azoospermia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	21619704		★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	BEFREE	29231814		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	28033443, 29351780		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	28033443, 28702895, 33036707, 36721777	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	26483394, 32113160, 39256447	Associate	★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	BEFREE	26341555		★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	GENOMICS_ENGLAND_DG	28297620		★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
PREMATURE OVARIAN FAILURE 15	Premature Ovarian Failure	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
SPERMATOGENIC FAILURE 28	Spermatogenic Failure	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spina Bifida	Spina Bifida	HPO_DG			★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly of fingers	Syndactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly of the toes	Syndactyly Of The Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	25288723, 28702895	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	28702895		★☆☆☆☆ Found in Text Mining only