FANCB (FA complementation group B)

Gene

• Entrez ID: 2187
• Gene name: FA complementation group B
• Gene symbol: FANCB
• Synonyms (NCBI Gene): FA2, FAAP90, FAAP95, FAB, FACB
• Chromosome: X
• Chromosome location: Xp22.2
• Summary: This gene encodes a member of the Fanconi anemia complementation group B. This protein is assembled into a nucleoprotein complex that is involved in the repair of DNA lesions. Mutations in this gene can cause chromosome instability and VACTERL syndrome wi

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs143585647	G>A,T	Pathogenic	Stop gained, missense variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs146157131	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs149695930	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs200161949	A>G	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant, genic downstream transcript variant
rs879254329	A>G	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1064793758	CAAA>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs1161918267	A>G,T	Pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, missense variant
rs1569083185	A>C	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, genic downstream transcript variant
rs1569083464	CT>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1569083679	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1569085810	C>T	Pathogenic	Genic downstream transcript variant, intron variant
rs1601976527	TCCT>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1601976655	TTTG>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1601977379	C>A	Pathogenic	Splice donor variant, genic downstream transcript variant
rs1601977844	->A	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1601977912	TCTC>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1602005062	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, genic downstream transcript variant
rs1602005335	->A	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1602005463	GAGATATTCTTAA>-	Pathogenic	Downstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs1602006627	->A	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1602006737	A>G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	IDA	22343915
GO:0005515	Function	Protein binding	IPI	17396147
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005829	Component	Cytosol	TAS
GO:0006281	Process	DNA repair	IEA
GO:0006974	Process	DNA damage response	IEA
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
GO:0043240	Component	Fanconi anaemia nuclear complex	IEA
GO:0043240	Component	Fanconi anaemia nuclear complex	NAS	22343915
GO:1905168	Process	Positive regulation of double-strand break repair via homologous recombination	IBA
GO:1990414	Process	Replication-born double-strand break repair via sister chromatid exchange	IBA
GO:2000042	Process	Negative regulation of double-strand break repair via homologous recombination	IBA

Other IDs

• MIM: 300515
• HGNC: 3583
• e!Ensembl: ENSG00000181544

Protein

• UniProt ID: Q8NB91
• Protein name: Fanconi anemia group B protein (Protein FACB) (Fanconi anemia-associated polypeptide of 95 kDa) (FAAP95)
• Protein function: DNA repair protein required for FANCD2 ubiquitination.
• PDB: 7KZP, 7KZQ, 7KZR, 7KZS, 7KZT, 7KZV
• Sequence:

  MTSKQAMSSNEQERLLCYNGEVLVFQLSKGNFADKEPTKTPILHVRRMVFDRGTKVFVQK
  STGFFTIKEENSHLKIMCCNCVSDFRTGINLPYIVIEKNKKNNVFEYFLLILHSTNKFEM
  RLSFKLGYEMKDGLRVLNGPLILWRHVKAFFFISSQTGKVVSVSGNFSSIQWAGEIENLG
  MVLLGLKECCLSEEECTQEPSKSDYAIWNTKFCVYSLESQEVLSDIYIIPPAYSSVVTYV
  HICATEIIKNQLRISLIALTRKNQLISFQNGTPKNVCQLPFGDPCAVQLMDSGGGNLFFV
  VSFISNNACAVWKESFQVAAKWEKLSLVLIDDFIGSGTEQVLLLFKDSLNSDCLTSFKIT
  DLGKINYSSEPSDCNEDDLFEDKQENRYLVVPPLETGLKVCFSSFRELRQHLLLKEKIIS
  KSYKALINLVQGKDDNTSSAEEKECLVPLCGEEENSVHILDEKLSDNFQDSEQLVEKIWY
  RVIDDSLVVGVKTTSSLKLSLNDVTLSLLMDQAHDSRFRLLKCQNRVIKLSTNPFPAPYL
  MPCEIGLEAKRVTLTPDSKKEESFVCEHPSKKECVQIITAVTSLSPLLTFSKFCCTVLLQ
  IMERESGNCPKDRYVVCGRVFLSLEDLSTGKYLLTFPKKKPIEHMEDLFALLAAFHKSCF
  QITSPGYALNSMKVWLLEHMKCEIIKEFPEVYFCERPGSFYGTLFTWKQRTPFEGILIIY
  SRNQTVMFQCLHNLIRILPINCFLKNLKSGSENFLIDNMAFTLEKELVTLSSLSSAIAKH
  ESNFMQRCEVSKGKSSVVAAALSDRRENIHPYRKELQREKKKMLQTNLKVSGALYREITL
  KVAEVQLKSDFAAQKLSNL

• Sequence length: 859

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
FANCB-related disorder	Likely pathogenic; Pathogenic	rs2519009603, rs2518988749	RCV003416674 RCV003402801	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fanconi anemia	Likely pathogenic; Pathogenic	rs2147445599, rs2147404831, rs879254329, rs2519009603, rs2519011748, rs2518988414	RCV001927558 RCV001910916 RCV000235722 RCV003523168 RCV003523631 RCV003637682	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fanconi anemia complementation group B	Likely pathogenic; Pathogenic	rs2147445599, rs1569085810, rs2518993205, rs370248837, rs1569083185, rs1569083464, rs1569083679, rs1601976527, rs1601976655, rs1601977379, rs1601977844, rs1601977912, rs143585647, rs1161918267, rs1602005062, rs1602005335, rs1602005463, rs1602006627, rs1602006737	RCV004555628 RCV000011617 RCV003333679 RCV004576536 RCV000030703 RCV000030704 RCV000851562 RCV000851572 RCV000851570 RCV000851567 RCV000851564 RCV000851563 RCV000851559 RCV000851558 RCV000851556 RCV000851555 RCV000851554 RCV000851553 RCV000851552	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fanconi anemia complementation group A	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FANCONI ANEMIA, COMPLEMENTATION GROUP B	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fanconi Anemia, X-Linked	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma susceptibility 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary cancer-predisposing syndrome	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
History of neurodevelopmental disorder	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, PILORGE TYPE	—	Disgenet	★★☆☆☆ 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 breast	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple congenital anomalies/dysmorphic syndrome	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Conflicting classifications of pathogenicity; Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Papillary renal cell carcinoma type 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VACTERL ASSOCIATION WITH HYDROCEPHALUS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VACTERL association, X-linked, with or without hydrocephalus	Likely benign; Uncertain significance; Conflicting classifications of pathogenicity; Benign	ClinVar ClinVar, Disgenet, GenCC, HPO ClinVar, Disgenet, GenCC, HPO ClinVar, Disgenet, GenCC, HPO	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
VACTERL with hydrocephalus	Benign; Likely benign; Uncertain significance	ClinVar Disgenet, Orphanet Disgenet, Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
VERTEBRAL ABNORMALITY, ANAL ATRESIA, CARDIAC ABNORMALITY, TRACHEO-ESOPHAGEAL FISTULA, RENAL ANOMALY, LIMB DEFECT SYNDROME WITH HYDROCEPHALUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-linked central congenital hypothyroidism with late-onset testicular enlargement	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	BEFREE	11836165, 11916513, 12145675, 1743594, 2386768, 6578871, 7669665, 7741135, 8207977		★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	BEFREE	10389594, 3828970, 6404327, 6949633, 9217186, 9593290		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	10654451, 11037802, 12147652, 12529654, 1378163, 1384663, 1465029, 17339179, 19588516, 2214875, 3466676, 3861195, 6334305, 6592035, 7564511, 7688838, 7993791, 8019967, 8609722, 9593290, 9594276		★☆☆☆☆ Found in Text Mining only
Acute Megakaryocytic Leukemias	Megakaryocytic Leukemia	BEFREE	1434816, 16527614, 2766229, 9232608		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	10516750, 10704687, 11530805, 16333820, 19296110, 2268582, 2396252, 26608508, 29254171, 3856472, 6438985, 6576850, 8630974		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	GENOMICS_ENGLAND_DG	28297620		★☆☆☆☆ Found in Text Mining only
Acute Myeloid Leukemia, M1	Myeloid Leukemia	BEFREE	16596222		★☆☆☆☆ Found in Text Mining only
Acute myeloid leukemia, minimal differentiation	Myeloid Leukemia	BEFREE	10731597, 17158236		★☆☆☆☆ Found in Text Mining only
Acute myelomonocytic leukemia	Myelomonocytic Leukemia	BEFREE	12691148, 1984851, 1993308, 2510440, 28371234, 31518054, 3466677, 3470127, 3857943, 6584185, 7529550, 7874007, 7919348, 8952155, 9309125, 9593283, 9858225		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	10914542, 11801315, 11939742, 12888896, 19995225, 23292868, 6945293, 7658712, 8518183, 8605120, 8767107, 8982049, 9825588		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	8638216		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	10654451, 1378163, 17339179, 19588516, 2214875, 7564511, 7688838, 8609722, 9594276		★☆☆☆☆ Found in Text Mining only
Adult Acute Myeloblastic Leukemia	Myeloblastic Leukemia	BEFREE	8603334		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	10049059		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	Pubtator	33662100	Associate	★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anemia Sickle Cell	Sickle cell anemia	Pubtator	7685112	Associate	★☆☆☆☆ Found in Text Mining only
Anophthalmos	Syndromic microphthalmia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anorexia	Anorexia	Pubtator	33662100	Associate	★☆☆☆☆ Found in Text Mining only
Anus, Imperforate	Imperforate anus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aqueductal Stenosis	Aqueductal Stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arhinencephaly	Arrhinencephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Astigmatism	Astigmatism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	29741737	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
ATRICHIA WITH PAPULAR LESIONS	Atrichia With Papular Lesions	BEFREE	19995225		★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Azoospermia Nonobstructive	Nonobstructive azoospermia	Pubtator	36017582	Associate	★☆☆☆☆ Found in Text Mining only
B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1	Lymphoblastic Leukemia	BEFREE	10674898		★☆☆☆☆ Found in Text Mining only
B-CELL MALIGNANCY, LOW-GRADE	Lymphocytic Leukemia	BEFREE	7794764		★☆☆☆☆ Found in Text Mining only
Blast Phase	Blast phase chronic myelogenous leukemia	BEFREE	8207977, 9652758, 9819797		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bloom Syndrome	Bloom Syndrome	BEFREE	11454428		★☆☆☆☆ Found in Text Mining only
Bone Marrow Failure Disorders	Bone marrow failure syndromes	Pubtator	32106311	Associate	★☆☆☆☆ Found in Text Mining only
Breast Cancer, Familial	Breast Cancer	BEFREE	18302019		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	18302019		★☆☆☆☆ Found in Text Mining only
Burkitt Leukemia	Burkitt`s Lymphoma	BEFREE	3498431		★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	30059355		★☆☆☆☆ 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	32703154	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	10654451, 1378163, 17339179, 19588516, 2214875, 7564511, 7688838, 8609722, 9593283, 9594276		★☆☆☆☆ Found in Text Mining only
Childhood Acute Myeloid Leukemia	Acute Myeloid Leukemia	BEFREE	16883592, 17763467, 8282816		★☆☆☆☆ Found in Text Mining only
Choanal Atresia	Choanal Atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	1643016, 16652191, 7794764, 8683974, 9163605		★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	10068678		★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
CNS disorder	CNS Disorder	BEFREE	19020548		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	28007957		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	8090750	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	32106311	Associate	★☆☆☆☆ Found in Text Mining only
Congenital absence of external ear	Anotia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital absence of kidneys syndrome	Renal agenesis	HPO_DG			★☆☆☆☆ 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	10400423, 12619166, 12888896, 1381953, 1394102, 19020548, 2045068, 21527803, 22549442, 2293879, 23317194, 3466677, 3466680, 3478133, 6584185, 6704942, 9436917, 9593283		★☆☆☆☆ 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
Congenital hypoplasia of lung	Pulmonary hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of radius	Congenital Hypoplasia Of Radius	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
Dementia	Dementia	BEFREE	29871644		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	11801315, 16527614, 8148422		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	BEFREE	1993308, 20562653, 2125791, 2510440, 2731148, 28371234, 3162648, 3466677, 7596186, 7874007, 7919348, 8724547, 9260580		★☆☆☆☆ Found in Text Mining only
Erythroid hypoplasia	Erythroid hypoplasia	BEFREE	16888788		★☆☆☆☆ Found in Text Mining only
Esophageal Atresia	Esophageal Atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	12001267, 15502827, 15611632, 16679491, 21910217, 22052692, 29193904, 31666700		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fanconi Anemia	Fanconi Anemia	LHGDN	15502827		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fanconi Anemia	Fanconi anemia	Pubtator	16720839, 19405097, 29193904, 30031030, 32106311, 36135330	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fanconi anemia	Fanconi Anemia	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fanconi Anemia	Fanconi Anemia	GENOMICS_ENGLAND_DG	28297620		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fanconi Anemia	Fanconi Anemia	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fanconi Anemia Complementation Group B	Fanconi anemia	Pubtator	16679491	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	15502827, 15611632, 21910217, 22052692, 29193904		★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP B	Fanconi Anemia	CLINVAR_DG	15502827, 16679491, 17924555, 21910217		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FANCONI ANEMIA, COMPLEMENTATION GROUP B	Fanconi Anemia	GENOMICS_ENGLAND_DG	15502827, 26683739		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FANCONI ANEMIA, COMPLEMENTATION GROUP B	Fanconi Anemia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FANCONI ANEMIA, COMPLEMENTATION GROUP C	Fanconi Anemia	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Fibrinogen Deficiency	Fibrinogen Deficiency	BEFREE	9697871		★☆☆☆☆ 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
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	20332657	Associate	★☆☆☆☆ Found in Text Mining only
Hernia, Femoral	Hernia, Femoral	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	BEFREE	21910217		★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	Pubtator	29193904	Associate	★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypofibrinogenemia	Hypofibrinogenemia	BEFREE	9697871		★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	31807998		★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	36017582	Associate	★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	39267058	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Juvenile Myelomonocytic Leukemia	Myelomonocytic Leukemia	BEFREE	10086728, 2917331		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	10233384, 10516750, 10803509, 11168511, 12661007, 1638477, 16652191, 1696833, 17662713, 20431036, 31017878, 3463400, 3480101, 4079455, 6438985, 7529550, 9753066		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	28978904, 29908545, 32615908, 34053988	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	10052712, 10068678, 10086728, 10192433, 10354136, 10434126, 10451702, 10516750, 10731597, 10739003, 10764149, 10803509, 10867153, 10870310, 11007164, 11021751, 11037802, 11454428, 11552979, 11860442, 11921279, 11939742, 12036858, 12095955, 12221668, 12529654, 12619166, 12620289, 12661007, 12888896, 12921947, 12970781, 1313768, 1378322, 1381953, 1384663, 1387692, 1405703, 1419814, 14754604, 1491723, 15385938, 15674366, 15996732, 16328057, 16527614, 17270269, 17339179, 18656694, 19296110, 19588516, 1967953, 1974471, 20431036, 2043481, 2045068, 20562653, 21527803, 22397365, 22407852, 2293765, 23029227, 23238897, 23372164, 23450818, 2370915, 24586425, 25174716, 26608508, 2684256, 27285584, 2731148, 2756934, 2790202, 28536942, 28906004, 28978904, 30219650, 30267430, 3036571, 3060252, 3088882, 3098329, 31676828, 3422584, 3466680, 3470127, 3471314, 3475167, 3791177, 6577939, 6592035, 6627222, 6704942, 6722760, 7116317, 7522292, 7522717, 7628759, 7950925, 8011538, 8037181, 8057667, 8326735, 8338940, 8464230, 8485203, 8500100, 8518183, 8535231, 8616790, 8628009, 8656701, 8724547, 8780746, 8806691, 8892693, 8952155, 8982049, 9009082, 9009258, 9031103, 9066590, 9074414, 9156652, 9169042, 9220659, 9260580, 9264371, 9359520, 9428365, 9436917, 9488621, 9593283, 9593784, 9633896, 9766757, 9809039, 9827932, 9844918, 9858145, 9858225, 9861236		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GENOMICS_ENGLAND_DG	28297620		★☆☆☆☆ Found in Text Mining only
Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative	Myeloid Leukemia	BEFREE	10847463		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelomonocytic, Chronic	Myelomonocytic Leukemia	BEFREE	11960342, 2328318, 23372164, 2917331		★☆☆☆☆ 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
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	3874025	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	9232608		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	GENOMICS_ENGLAND_DG	21910217		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	18302019		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	2766229, 7741135, 9593290		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	28007957		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	18302019		★☆☆☆☆ 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
Microcornea	Microcornea	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
Microvascular Angina	Microvascular Angina	BEFREE	21910217		★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	31396127		★☆☆☆☆ Found in Text Mining only
Miller Dieker syndrome	Miller Dieker Syndrome	BEFREE	2293879, 7869740		★☆☆☆☆ Found in Text Mining only
Miller Dieker syndrome	Miller Dieker Syndrome	GENOMICS_ENGLAND_DG	28297620		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	9531329	Associate	★☆☆☆☆ Found in Text Mining only
Myelodysplasia	Myelodysplasia	BEFREE	10706766, 2400804, 9359520		★☆☆☆☆ Found in Text Mining only
Myelodysplasia	Myelodysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	10049059, 10052712, 10086728, 10457403, 10565294, 10706766, 10764149, 11021751, 11167795, 11454428, 11801466, 12210602, 12406010, 12529654, 15860935, 16527891, 16575469, 16888788, 16914909, 17011983, 17270269, 20345447, 2043479, 2293879, 2328318, 23572136, 2363412, 2400804, 24115220, 2766240, 31676828, 3472648, 3567880, 3595811, 3954964, 6590091, 7723410, 7869740, 8057667, 8500100, 8518183, 8555063, 8598233, 8602998, 9009082, 9168445, 9264371, 9359520, 9395190, 9593283, 9593289, 9593290, 9783804		★☆☆☆☆ 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
Myeloid Leukemia	Myeloid Leukemia	BEFREE	26608508		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	10068678, 10457403, 2752368, 3467145, 9652758, 9819797		★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	12529654, 3567880		★☆☆☆☆ Found in Text Mining only
Nausea	Nausea	Pubtator	33662100	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	7496359		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	16883592		★☆☆☆☆ Found in Text Mining only
Nijmegen Breakage Syndrome	Nijmegen Breakage Syndrome	BEFREE	16803569		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	28242860		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	16110435	Associate	★☆☆☆☆ 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
Polycythemia Vera	Polycythemia Vera	BEFREE	6704942		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	12529654, 6334305, 8019967, 9593290		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	11400651, 9264371		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	29871644		★☆☆☆☆ Found in Text Mining only
Primary hypogonadism	Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Refractory anaemia with excess blasts	Myelodysplastic syndrome	BEFREE	10764149, 11960342, 2293765, 2328318, 2510440, 3422584, 3567880, 8037176, 9168445, 9180288, 9783804		★☆☆☆☆ Found in Text Mining only
Refractory anemia with ringed sideroblasts	Anemia With Ringed Sideroblasts	BEFREE	11960342, 8630986		★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	BEFREE	10086728, 11167795, 11960342, 15899387, 16888788, 17011983, 23572136, 3954964, 3965125, 6590091, 7697637, 8037176, 9324277		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	8946929		★☆☆☆☆ Found in Text Mining only
Sacral agenesis	Sacral Agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
secondary acute myeloid leukemia	Myeloid leukemia	BEFREE	9204982		★☆☆☆☆ Found in Text Mining only
Sideroblastic anemia	Sideroblastic Anemia	BEFREE	3965125		★☆☆☆☆ 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	20332657	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	32193747	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sweet Syndrome	Sweet Syndrome	BEFREE	3475167		★☆☆☆☆ 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
Thrombocythemia, Essential	Thrombocythemia	BEFREE	14703699		★☆☆☆☆ Found in Text Mining only
Thrombocytosis	Thrombocytosis	BEFREE	15725469		★☆☆☆☆ Found in Text Mining only
Thumb aplasia	Thumb Aplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Transposition of Great Vessels	Transposition Of Great Vessels	HPO_DG			★☆☆☆☆ Found in Text Mining only
Turcot syndrome (disorder)	Turcot syndrome	BEFREE	8638216		★☆☆☆☆ Found in Text Mining only
Urethral atresia	Urethral atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
VACTERL Association	VACTERL Association	BEFREE	22052692		★☆☆☆☆ Found in Text Mining only
VACTERL association	Vacterl association	Pubtator	29193904	Associate	★☆☆☆☆ Found in Text Mining only
VACTERL Association With Hydrocephalus	VACTERL Association	GENOMICS_ENGLAND_DG	15502827, 26683739		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VACTERL Association With Hydrocephalus	VACTERL Association	BEFREE	16679491, 21910217		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VACTERL Association With Hydrocephalus	Vacterl association	Pubtator	16679491	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VACTERL Association With Hydrocephalus	VACTERL Association	ORPHANET_DG	21910217		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VACTERL Association With Hydrocephalus	VACTERL Association	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS	VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS	GENOMICS_ENGLAND_DG	15502827, 26683739		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
VACTERL with hydrocephalus	VACTERL Association	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Vater Association With Macrocephaly And Ventriculomegaly	Vater Association With Macrocephaly And Ventriculomegaly	ORPHANET_DG	21910217		★☆☆☆☆ Found in Text Mining only