FANCG (FA complementation group G)

Gene

• Entrez ID: 2189
• Gene name: FA complementation group G
• Gene symbol: FANCG
• Synonyms (NCBI Gene): FAG, XRCC9
• Chromosome: 9
• Chromosome location: 9p13.3
• 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
rs121434425	C>A	Pathogenic	Coding sequence variant, stop gained
rs121434426	G>A	Pathogenic	Coding sequence variant, stop gained
rs149616199	C>A,G	Pathogenic	Splice donor variant
rs200479612	C>G,T	Pathogenic	Splice donor variant
rs397507559	AAACACCTCA>-	Pathogenic	Frameshift variant, coding sequence variant
rs397507561	T>C	Pathogenic	Splice acceptor variant
rs587776640	GGTAGGC>-	Pathogenic	Coding sequence variant, frameshift variant
rs753485145	C>-	Pathogenic	Coding sequence variant, stop gained
rs757418016	G>-,GG	Pathogenic	Coding sequence variant, frameshift variant
rs758423821	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs759590778	T>A	Pathogenic	Splice acceptor variant
rs767518932	C>G,T	Likely-pathogenic	Splice acceptor variant
rs769547477	T>C	Pathogenic	Splice acceptor variant
rs863224506	->C	Pathogenic	Coding sequence variant, frameshift variant
rs886063898	->A	Uncertain-significance, pathogenic	Coding sequence variant, frameshift variant
rs1060501862	C>T	Likely-pathogenic	Splice donor variant
rs1209807088	G>A	Pathogenic	Coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT006898	hsa-miR-23a-3p	Immunoblot, Luciferase reporter assay, qRT-PCR, Western blot	21750350
MIRT016405	hsa-miR-193b-3p	Microarray	20304954
MIRT037687	hsa-miR-744-5p	CLASH	23622248
MIRT989177	hsa-miR-1238	CLIP-seq
MIRT989178	hsa-miR-18a	CLIP-seq
MIRT989179	hsa-miR-18b	CLIP-seq
MIRT989180	hsa-miR-3148	CLIP-seq
MIRT989181	hsa-miR-323-5p	CLIP-seq
MIRT989182	hsa-miR-4428	CLIP-seq
MIRT989183	hsa-miR-4445	CLIP-seq
MIRT989184	hsa-miR-4691-5p	CLIP-seq
MIRT989185	hsa-miR-4735-3p	CLIP-seq
MIRT989186	hsa-miR-4756-3p	CLIP-seq
MIRT989187	hsa-miR-876-3p	CLIP-seq
MIRT1993110	hsa-miR-4790-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	IDA	22343915
GO:0001541	Process	Ovarian follicle development	IEA
GO:0003684	Function	Damaged DNA binding	TAS	9806548
GO:0005515	Function	Protein binding	IPI	10627486, 10652215, 11063725, 12649160, 16189514, 17060495, 17289582, 17396147, 19102630, 22458338, 28514442, 31467278, 32296183, 32814053, 33961781, 37398436
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IDA	17060495
GO:0005829	Component	Cytosol	TAS
GO:0006281	Process	DNA repair	IEA
GO:0006281	Process	DNA repair	TAS	9256465
GO:0006974	Process	DNA damage response	IBA
GO:0006974	Process	DNA damage response	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0007005	Process	Mitochondrion organization	IMP	17060495
GO:0007286	Process	Spermatid development	IEA
GO:0009314	Process	Response to radiation	IEA
GO:0016607	Component	Nuclear speck	IDA
GO:0036297	Process	Interstrand cross-link repair	IEA
GO:0036297	Process	Interstrand cross-link repair	NAS	19965384
GO:0043240	Component	Fanconi anaemia nuclear complex	IBA
GO:0043240	Component	Fanconi anaemia nuclear complex	IDA	20347428, 22266823, 22343915, 22705371
GO:0043240	Component	Fanconi anaemia nuclear complex	IEA
GO:0043240	Component	Fanconi anaemia nuclear complex	NAS	22343915

Other IDs

• MIM: 602956
• HGNC: 3588
• e!Ensembl: ENSG00000221829

Protein

• UniProt ID: O15287
• Protein name: Fanconi anemia group G protein (Protein FACG) (DNA repair protein XRCC9)
• Protein function: DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be implicated in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability. Candidate tumor suppressor gene.
• PDB: 7KZP, 7KZQ, 7KZR, 7KZS, 7KZT, 7KZV
• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in testis and thymus. Found in lymphoblasts.
• Sequence:

  MSRQTTSVGSSCLDLWREKNDRLVRQAKVAQNSGLTLRRQQLAQDALEGLRGLLHSLQGL
  PAAVPVLPLELTVTCNFIILRASLAQGFTEDQAQDIQRSLERVLETQEQQGPRLEQGLRE
  LWDSVLRASCLLPELLSALHRLVGLQAALWLSADRLGDLALLLETLNGSQSGASKDLLLL
  LKTWSPPAEELDAPLTLQDAQGLKDVLLTAFAYRQGLQELITGNPDKALSSLHEAASGLC
  PRPVLVQVYTALGSCHRKMGNPQRALLYLVAALKEGSAWGPPLLEASRLYQQLGDTTAEL
  ESLELLVEALNVPCSSKAPQFLIEVELLLPPPDLASPLHCGTQSQTKHILASRCLQTGRA
  GDAAEHYLDLLALLLDSSEPRFSPPPSPPGPCMPEVFLEAAVALIQAGRAQDALTLCEEL
  LSRTSSLLPKMSRLWEDARKGTKELPYCPLWVSATHLLQGQAWVQLGAQKVAISEFSRCL
  ELLFRATPEEKEQGAAFNCEQGCKSDAALQQLRAAALISRGLEWVASGQDTKALQDFLLS
  VQMCPGNRDTYFHLLQTLKRLDRRDEATALWWRLEAQTKGSHEDALWSLPLYLESYLSWI
  RPSDRDAFLEEFRTSLPKSCDL

• Sequence length: 622

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
Abnormality of blood and blood-forming tissues	Likely pathogenic	rs2131056701	RCV001814313	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Carcinoma of pancreas	Likely pathogenic	rs2131056131	RCV001391221	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
FANCG-related disorder	Likely pathogenic; Pathogenic	rs768083289, rs149616199, rs397507560, rs2131055853, rs761519737	RCV003395526 RCV004748504 RCV003904814 RCV003416907 RCV004749616	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fanconi anemia	Likely pathogenic; Pathogenic	rs767443643, rs1829062071, rs2131056701, rs2131051951, rs2131053943, rs748730134, rs755363896, rs2131055360, rs149721361, rs2131056614, rs2131058481, rs2131058553, rs1829123346, rs886063896, rs2131053817, rs2131053417, rs1461242610, rs2131053086, rs1224034435, rs745928033, rs2131053141, rs770263417, rs2131057213, rs2131051989, rs747660501, rs2131055405, rs2131060266, rs2131055463, rs1157985962, rs1412207017, rs2131059176, rs2131058595, rs1290655946, rs760738460, rs1449918930, rs1326382443, rs2131054083, rs2131056549, rs1384748892, rs786204205, rs2490409056, rs1187674541, rs1829092043, rs2131059848, rs1829062032, rs2490402695, rs2490404395, rs768083289, rs2490397362, rs863224506, rs1018027137, rs1441100300, rs2490398544, rs121434425, rs200479612, rs121434426, rs149616199, rs397507560, rs587776640, rs2131051986, rs2490396692, rs2131055853, rs1829054352, rs1251968708, rs2490396654, rs778986343, rs2490403634, rs1251811392, rs1396898872, rs1829103547, rs1829066424, rs2490398313, rs1340517333, rs2490399665, rs1478768927, rs2490401769, rs2131053808, rs2490411715, rs2490402601, rs2490402822, rs2490410600, rs2490395703, rs2490403647, rs1829068323, rs2490393857, rs2490407906, rs1235403176, rs1829144030, rs886063898, rs2490392724, rs1060501862, rs769547477, rs397507559, rs767518932, rs1563986439, rs1209807088, rs779834525, rs757418016, rs753485145, rs758423821, rs759590778, rs867467817, rs1829091761, rs1491369358, rs1829041127, rs1829065047, rs1829086026, rs1028569753, rs753727461, rs755361015, rs1829104194, rs1829129603, rs1829130135, rs1829130643, rs927868500, rs776122485, rs1052044702, rs761519737, rs1829092483, rs754484649, rs1829054259	RCV001377115 RCV001379948 RCV001378690 RCV001385161 RCV001386446 RCV001389380 RCV001385294 RCV001388483 RCV001384029 RCV001390140 RCV001380474 RCV001382663 RCV001615379 RCV001615382 RCV001615383 RCV001615384 RCV001615385 RCV001615386 RCV001977918 RCV001931723 RCV002046098 RCV002037622 RCV001999871 RCV001994229 RCV001960341 RCV001900042 RCV001950952 RCV001908901 RCV001951931 RCV001946113 RCV002025750 RCV001867354 RCV001939595 RCV001939512 RCV001946802 RCV001972738 RCV001959202 RCV001949546 RCV003523119 RCV000168294 RCV003091226 RCV002620955 RCV003118941 RCV002601496 RCV002649954 RCV002828971 RCV002871965 RCV002872717 RCV002923306 RCV000198686 RCV002982995 RCV003026163 RCV003000166 RCV000706520 RCV001037690 RCV000791560 RCV000630837 RCV000700011 RCV001057950 RCV003039679 RCV003231003 RCV003523169 RCV005100161 RCV003523186 RCV005100162 RCV003779029 RCV003636028 RCV003636029 RCV003522390 RCV003523397 RCV003523464 RCV003523775 RCV003524536 RCV003523853 RCV003524618 RCV003524745 RCV003524850 RCV003636098 RCV003636389 RCV003637070 RCV003637177 RCV003637195 RCV003637341 RCV003637697 RCV003637789 RCV003635842 RCV003636497 RCV003636525 RCV003637407 RCV003875893 RCV003867603 RCV000814219 RCV004018235 RCV000461878 RCV000695845 RCV003522922 RCV000630841 RCV000692482 RCV000699360 RCV000696742 RCV001869034 RCV001067732 RCV000814599 RCV000798901 RCV000826141 RCV001049179 RCV001060677 RCV001064984 RCV002561027 RCV001863077 RCV005094038 RCV003635945 RCV001863075 RCV001379896 RCV001212916 RCV001381185 RCV002561026 RCV002258150 RCV002271629 RCV003396805 RCV001863074 RCV002560181 RCV003770190 RCV001863078 RCV001863076 RCV005208728 RCV001241021 RCV001246594	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fanconi anemia complementation group G	Likely pathogenic; Pathogenic	rs767443643, rs1829062071, rs2131051951, rs2131053943, rs755363896, rs149721361, rs1829085768, rs2131055994, rs1829091954, rs765150956, rs1224034435, rs770263417, rs587778345, rs2131055463, rs1412207017, rs2131058595, rs760738460, rs1326382443, rs2131056549, rs1384748892, rs786204205, rs1829092043, rs2131059848, rs768083289, rs863224506, rs1018027137, rs1441100300, rs121434425, rs200479612, rs121434426, rs397507561, rs149616199, rs397507560, rs587776640, rs2490404478, rs2490403470, rs2131055853, rs1829054352, rs1251968708, rs2490403680, rs2490401471, rs2490408947, rs1404524516, rs1829145397, rs2490396654, rs546023787, rs145613634, rs2490404555, rs2490408677, rs2490402417, rs2131056491, rs2490407836, rs764658302, rs2490410542, rs2490410471, rs2131057155, rs778986343, rs2490403634, rs2490408612, rs2490407241, rs1251811392, rs1478768927, rs2490402601, rs2490403647, rs886063898, rs2490393648, rs2490395865, rs1563986833, rs2490410515, rs2131055534, rs1829103511, rs769547477, rs397507559, rs767518932, rs1563986439, rs1209807088, rs779834525, rs757418016, rs753485145, rs759590778, rs1420316004, rs1829035889, rs1829041127, rs1829042768, rs766086210, rs1829055917, rs1829055945, rs1829056657, rs1829066243, rs778328620, rs1829086026, rs1028569753, rs753727461, rs755361015, rs1829104194, rs1829128546, rs1829129603, rs1829130135, rs1829130643, rs927868500, rs776122485, rs1052044702, rs1829144428, rs746392434, rs1829040508, rs761519737, rs758423821, rs1829092483, rs1829129696, rs754484649	RCV001831335 RCV003469643 RCV003463003 RCV001826168 RCV001826166 RCV003147631 RCV001580703 RCV001580704 RCV001783263 RCV001781088 RCV004571876 RCV003464290 RCV004567045 RCV004571580 RCV002250786 RCV003464187 RCV003464299 RCV003464318 RCV003464320 RCV002226565 RCV001194974 RCV003466013 RCV003464571 RCV003465859 RCV001194937 RCV003465884 RCV003459702 RCV000007104 RCV000007106 RCV000007107 RCV000007108 RCV000007109 RCV000007110 RCV000007111 RCV003158007 RCV003340808 RCV004572971 RCV003468152 RCV003468153 RCV003461490 RCV003468154 RCV003461491 RCV003461492 RCV003461493 RCV003461494 RCV003461495 RCV003468155 RCV003468156 RCV003461496 RCV003461497 RCV003468157 RCV003468158 RCV003468159 RCV003461498 RCV003461499 RCV003468160 RCV003468161 RCV003461500 RCV003461501 RCV003461502 RCV003461503 RCV003461504 RCV003461505 RCV005356466 RCV005047709 RCV005051354 RCV004574323 RCV000363591 RCV004576573 RCV004576574 RCV004576576 RCV004576577 RCV004576578 RCV004576579 RCV000760153 RCV000034123 RCV004568369 RCV001194955 RCV001194951 RCV001194971 RCV000760154 RCV000761291 RCV003145178 RCV003467527 RCV001194978 RCV001194976 RCV001194977 RCV001194973 RCV001194972 RCV001194969 RCV001194967 RCV001194966 RCV001194964 RCV001194962 RCV001194959 RCV001194958 RCV001194956 RCV001194952 RCV001194950 RCV001194949 RCV001194948 RCV001194947 RCV001194944 RCV001194943 RCV001194940 RCV001194939 RCV001194938 RCV001194936 RCV001194935 RCV001194946 RCV001194979 RCV001194975 RCV001194968 RCV001194961 RCV001194953 RCV001194941 RCV002484358 RCV002484321	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lymphoma	Likely pathogenic; Pathogenic	rs755363896	RCV005912642	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Monogenic short statue	Likely pathogenic; Pathogenic	rs149721361	RCV005865484	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian cancer	Likely pathogenic	rs780502064, rs766086210	RCV003154731 RCV003154785	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pituitary stalk interruption syndrome	Likely pathogenic	rs1829129603	RCV001257285	★★★★☆ 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
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fanconi anemia complementation group A	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FANCONI ANEMIA, COMPLEMENTATION GROUP A	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FANCONI ANEMIA, COMPLEMENTATION GROUP G	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOUTH DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	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
Adenocarcinoma	Adenocarcinoma	BEFREE	16762635		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	23752274	Stimulate	★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anemia Aplastic	Aplastic anemia	Pubtator	11110674	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Hemolytic	Hemolytic anemia	Pubtator	11167740, 35052418, 36894310	Associate	★☆☆☆☆ Found in Text Mining only
Anus, Imperforate	Imperforate anus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aplastic Anemia	Aplastic anemia	BEFREE	12239156		★☆☆☆☆ 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	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ 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 Hepatocellular	Hepatocellular carcinoma	Pubtator	29425759	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	27616351, 35111149	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	30426508		★☆☆☆☆ 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
Chromosomal Instability	Chromosomal instability	Pubtator	32989015	Associate	★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms Hereditary Nonpolyposis	Lynch syndrome	Pubtator	34285288	Associate	★☆☆☆☆ Found in Text Mining only
Congenital arteriovenous malformation	Congenital Arteriovenous Malformation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	21750350, 9256465		★☆☆☆☆ 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
Developmental Disabilities	Developmental disability	Pubtator	35052418	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endocrine System Diseases	Endocrine system disease	Pubtator	32529760	Associate	★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	10205272, 10567393, 10652215, 11063725, 11438206, 11719385, 12001267, 12444097, 12552564, 12673805, 14726700, 15192709, 15319283, 15657175, 16243825, 16946306, 17097336, 17387268, 21750350, 22036606, 23067021, 25477267, 25703136, 9806548		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fanconi Anemia	Fanconi anemia	Pubtator	10468606, 11001585, 11110674, 11438206, 11739169, 11750104, 12239156, 15082718, 15256425, 15299030, 15657175, 19405097, 29400309, 29891926, 29973652, 30031030, 30792206, 32529760, 34422195, 34436527, 35216452, 9382107	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fanconi Anemia	Fanconi Anemia	CTD_human_DG	10807541, 11093276		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fanconi Anemia	Fanconi Anemia	CLINVAR_DG	11093276, 11438206, 12552564, 12673805, 22778927, 25703136, 28717661, 9806458, 9806548		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fanconi Anemia	Fanconi Anemia	LHGDN	12552564, 15319283		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fanconi Anemia	Fanconi Anemia	GENOMICS_ENGLAND_DG	16493006, 19686080, 9806548		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fanconi anemia	Fanconi Anemia	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
fanconi anemia complementation group g	Fanconi Anemia	UNIPROT_DG	11093276, 18550849		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
fanconi anemia complementation group g	Fanconi Anemia	CLINVAR_DG	11093276, 12552564, 15657175, 23613520, 24763404, 9806548		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
fanconi anemia complementation group g	Fanconi Anemia	CLINGEN_DG	11719385, 11823446, 12552564, 20606166, 29376519, 9806548		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
fanconi anemia complementation group g	Fanconi Anemia	GENOMICS_ENGLAND_DG	16493006, 19686080, 9806548		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
fanconi anemia complementation group g	Fanconi Anemia	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	10205272, 10567393, 10652215, 11063725, 11438206, 11719385, 12444097, 12552564, 12673805, 14726700, 15192709, 15319283, 15657175, 16243825, 16946306, 17097336, 17387268, 21750350, 22036606, 23067021, 25477267, 25703136		★☆☆☆☆ Found in Text Mining only
Fatty Liver Alcoholic	Fatty liver, alcoholic	Pubtator	29425759	Stimulate	★☆☆☆☆ 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
Hepatitis Alcoholic	Alcoholic hepatitis	Pubtator	29425759	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	Pubtator	33270637	Associate	★☆☆☆☆ 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
leukemia	Leukemia	GENOMICS_ENGLAND_DG	28297620		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	CGI_DG			★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	26968956		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GENOMICS_ENGLAND_DG	28297620		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	CGI_DG			★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	20509860		★☆☆☆☆ Found in Text Mining only
Long narrow head	Dolichocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	30426508		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	12750283, 14726700, 15107617, 15277238, 15695377, 16243825		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12239156, 16762635, 21750350		★☆☆☆☆ Found in Text Mining only
Meckel Diverticulum	Meckel Diverticulum	HPO_DG			★☆☆☆☆ 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
Mouth Diseases	Mouth Diseases	CTD_human_DG	17682004		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple Sclerosis	BEFREE	14625084		★☆☆☆☆ 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
Neoplasms	Neoplasms	BEFREE	14726700, 9256465		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	16195237		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	30426508		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	32762026, 40076915	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	12750283, 14726700, 15107617, 15277238, 15695377, 16243825		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma, familial	Pancreatic carcinoma	BEFREE	14726700		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	17431503		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	14726700, 15277238	Associate	★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	GENOMICS_ENGLAND_DG	16493006, 28297620, 9806548		★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	BEFREE	25477267, 30368588		★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe Aplastic Anemia	Anemia	BEFREE	26968956		★☆☆☆☆ Found in Text Mining only
Spina Bifida	Spina Bifida	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	34598035	Associate	★☆☆☆☆ 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
Thyroiditis	Thyroiditis	Pubtator	32529760	Associate	★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum, Complementation Group D	Xeroderma Pigmentosum	BEFREE	16195237		★☆☆☆☆ Found in Text Mining only