PFBMFT1
MCID: PLM139
MIFTS: 38

Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 1 (PFBMFT1)

Categories: Bone diseases, Cancer diseases, Genetic diseases, Immune diseases, Respiratory diseases

Aliases & Classifications for Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related,...

MalaCards integrated aliases for Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 1:

Name: Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 1 57 29 6 17 70
Pfbmft1 57 72
Fibrosis, Pulmonary, and/or Bone Marrow Failure, Telomere-Related, Type 1 39
Pulmonary Fibrosis, and/or Bone Marrow Failure, Telomere-Related, 1 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
adult onset
incomplete penetrance
variable manifestations

Inheritance:
autosomal dominant


HPO:

31
pulmonary fibrosis and/or bone marrow failure, telomere-related, 1:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset incomplete penetrance


Classifications:



Summaries for Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related,...

OMIM® : 57 Shortened telomeres can cause a wide variety of clinical features that constitute a phenotypic spectrum. The most severe form is dyskeratosis congenita (see, e.g., 127750), characterized by early childhood onset of skin abnormalities, bone marrow failure, predisposition to malignancy, and risk of pulmonary and hepatic fibrosis. Adult-onset pulmonary fibrosis is the most common manifestation of mutant telomerase genes. Other manifestations include aplastic anemia due to bone marrow failure, hepatic fibrosis, and increased cancer risk, particularly myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). Phenotype, age at onset, and severity are determined by telomere length, not just telomerase mutation (summary by Armanios, 2009). The genetic diagnosis of telomere-related bone marrow failure and pulmonary fibrosis has implications for treatment because affected individuals generally do not respond to immunosuppression and may be at increased risk for fatal complications after bone marrow or lung transplantation (Parry et al., 2011). (614742) (Updated 20-May-2021)

MalaCards based summary : Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 1, also known as pfbmft1, is related to pulmonary fibrosis, idiopathic and dyskeratosis congenita, autosomal dominant 2. An important gene associated with Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 1 is TERT (Telomerase Reverse Transcriptase), and among its related pathways/superpathways is Lung fibrosis. Affiliated tissues include bone marrow, bone and myeloid, and related phenotypes are osteopenia and gastroesophageal reflux

UniProtKB/Swiss-Prot : 72 Pulmonary fibrosis, and/or bone marrow failure, telomere-related, 1: A disease associated with shortened telomeres. Pulmonary fibrosis is the most common manifestation. Other manifestations include aplastic anemia due to bone marrow failure, hepatic fibrosis, and increased cancer risk, particularly myelodysplastic syndrome and acute myeloid leukemia. Phenotype, age at onset, and severity are determined by telomere length.

Related Diseases for Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related,...

Diseases in the Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 2 family:

Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 1 Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 4
Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 3 Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 5

Diseases related to Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 16)
# Related Disease Score Top Affiliating Genes
1 pulmonary fibrosis, idiopathic 30.2 TERT RTEL1-TNFRSF6B RTEL1 LOC110806263
2 dyskeratosis congenita, autosomal dominant 2 9.9 TERT LOC110806263
3 pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 9.8 RTEL1-TNFRSF6B RTEL1
4 adult hepatocellular carcinoma 9.7 TERT LOC110806263
5 dyskeratosis congenita, autosomal recessive 5 9.7 RTEL1-TNFRSF6B RTEL1
6 revesz syndrome 9.7 TERT RTEL1
7 melanoma, cutaneous malignant 1 9.6 TERT RTEL1
8 interstitial lung disease 9.6 TERT LOC110806263
9 dyskeratosis congenita autosomal recessive 9.5 TERT RTEL1-TNFRSF6B RTEL1
10 hoyeraal hreidarsson syndrome 9.5 TERT RTEL1-TNFRSF6B RTEL1
11 leukemia, acute myeloid 9.4 TERT RTEL1-TNFRSF6B RTEL1
12 aplastic anemia 9.4 TERT RTEL1 LOC110806263
13 pulmonary fibrosis 9.2 TERT RTEL1-TNFRSF6B RTEL1 LOC110806263
14 dyskeratosis congenita, autosomal dominant 1 9.2 TERT RTEL1-TNFRSF6B RTEL1 LOC110806263
15 dyskeratosis congenita 9.2 TERT RTEL1-TNFRSF6B RTEL1 LOC110806263
16 dyskeratosis congenita autosomal dominant 9.2 TERT RTEL1-TNFRSF6B RTEL1 LOC110806263

Graphical network of the top 20 diseases related to Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 1:



Diseases related to Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 1

Symptoms & Phenotypes for Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related,...

Human phenotypes related to Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 1:

31 (show all 20)
# Description HPO Frequency HPO Source Accession
1 osteopenia 31 very rare (1%) HP:0000938
2 gastroesophageal reflux 31 very rare (1%) HP:0002020
3 anemia 31 very rare (1%) HP:0001903
4 cirrhosis 31 very rare (1%) HP:0001394
5 pulmonary fibrosis 31 very rare (1%) HP:0002206
6 dyspnea 31 very rare (1%) HP:0002094
7 premature graying of hair 31 very rare (1%) HP:0002216
8 cough 31 very rare (1%) HP:0012735
9 mediastinal lymphadenopathy 31 very rare (1%) HP:0100721
10 obstructive sleep apnea 31 very rare (1%) HP:0002870
11 aplastic anemia 31 very rare (1%) HP:0001915
12 crackles 31 very rare (1%) HP:0030830
13 clubbing of fingers 31 very rare (1%) HP:0100759
14 usual interstitial pneumonia 31 very rare (1%) HP:0031950
15 short telomere length 31 very rare (1%) HP:0031413
16 myelodysplasia 31 HP:0002863
17 bone marrow hypocellularity 31 HP:0005528
18 myeloid leukemia 31 HP:0012324
19 reticular pattern on pulmonary hrct 31 HP:0025390
20 decreased dlco 31 HP:0045051

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Respiratory Lung:
pulmonary fibrosis

Skin Nails Hair Hair:
premature graying of the hair

Neoplasia:
increased risk for cancer
increased risk for myelodysplastic syndrome
increased risk for hematologic cancer, particularly acute myeloid leukemia

Hematology:
pancytopenia
aplastic anemia
bone marrow failure

Abdomen Liver:
cirrhosis (in some patients)

Laboratory Abnormalities:
decreased telomere length in lymphocytes

Clinical features from OMIM®:

614742 (Updated 20-May-2021)

Drugs & Therapeutics for Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related,...

Search Clinical Trials , NIH Clinical Center for Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 1

Genetic Tests for Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related,...

Genetic tests related to Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 1:

# Genetic test Affiliating Genes
1 Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 1 29 TERT

Anatomical Context for Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related,...

MalaCards organs/tissues related to Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 1:

40
Bone Marrow, Bone, Myeloid, Lung

Publications for Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related,...

Articles related to Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 1:

(show all 14)
# Title Authors PMID Year
1
Pulmonary fibrosis, bone marrow failure, and telomerase mutation. 6 57
22512499 2012
2
Ancestral mutation in telomerase causes defects in repeat addition processivity and manifests as familial pulmonary fibrosis. 57 6
21483807 2011
3
Adult-onset pulmonary fibrosis caused by mutations in telomerase. 6 57
17460043 2007
4
Telomerase mutations in families with idiopathic pulmonary fibrosis. 57 6
17392301 2007
5
Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia. 6 57
15814878 2005
6
Novel variants in Nordic patients referred for genetic testing of telomere-related disorders. 6
29483670 2018
7
Erratum: Parry EM, Alder JK, Qi X, Chen JJ-L, Armanios M. Syndrome complex of bone marrow failure and pulmonary fibrosis predicts germline defects in telomerase. Blood. 2011;117(21):5607-5611. 6
31265491 2016
8
Subclinical lung disease, macrocytosis, and premature graying in kindreds with telomerase (TERT) mutations. 57
21349926 2011
9
Syndrome complex of bone marrow failure and pulmonary fibrosis predicts germline defects in telomerase. 57
21436073 2011
10
Defining the pathogenic role of telomerase mutations in myelodysplastic syndrome and acute myeloid leukemia. 57
19760749 2009
11
Syndromes of telomere shortening. 57
19405848 2009
12
Complex inheritance pattern of dyskeratosis congenita in two families with 2 different mutations in the telomerase reverse transcriptase gene. 6
18042801 2008
13
Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita. 57
16247010 2005
14
Association between aplastic anaemia and mutations in telomerase RNA. 57
12090986 2002

Variations for Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related,...

ClinVar genetic disease variations for Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 1:

6 (show top 50) (show all 101)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TERT NM_198253.2(TERT):c.2315A>G (p.Tyr772Cys) SNV Pathogenic 12732 rs121918663 GRCh37: 5:1272367-1272367
GRCh38: 5:1272252-1272252
2 TERT NM_001193376.2(TERT):c.2654+1922A>G SNV Pathogenic 36949 rs387907250 GRCh37: 5:1264657-1264657
GRCh38: 5:1264542-1264542
3 TERT NM_198253.3(TERT):c.579_580delinsTT (p.Arg194Ter) Indel Pathogenic 436993 rs1554043041 GRCh37: 5:1294421-1294422
GRCh38: 5:1294306-1294307
4 TERT NM_198253.2(TERT):c.2583-2A>C SNV Pathogenic 36944 rs111576740 GRCh37: 5:1266652-1266652
GRCh38: 5:1266537-1266537
5 LOC110806263 , TERT NM_198253.3(TERT):c.164T>A (p.Leu55Gln) SNV Pathogenic 36945 rs387907247 GRCh37: 5:1294941-1294941
GRCh38: 5:1294826-1294826
6 TERT NM_198253.3(TERT):c.508G>A (p.Val170Met) SNV Pathogenic 36947 rs387907248 GRCh37: 5:1294493-1294493
GRCh38: 5:1294378-1294378
7 TERT NM_001193376.2(TERT):c.2654+1985C>T SNV Pathogenic 36950 rs387907251 GRCh37: 5:1264594-1264594
GRCh38: 5:1264479-1264479
8 TERT NM_198253.3(TERT):c.1892G>A (p.Arg631Gln) SNV Pathogenic 29899 rs199422294 GRCh37: 5:1280331-1280331
GRCh38: 5:1280216-1280216
9 LOC110806263 , TERT NM_198253.2(TERT):c.219+1G>A SNV Pathogenic 12738 rs199422309 GRCh37: 5:1294885-1294885
GRCh38: 5:1294770-1294770
10 TERT NM_198253.3(TERT):c.2240del (p.Val747fs) Deletion Pathogenic 12737 rs199422300 GRCh37: 5:1278802-1278802
GRCh38: 5:1278687-1278687
11 TERT NM_198253.3(TERT):c.2594G>A (p.Arg865His) SNV Pathogenic 12736 rs121918666 GRCh37: 5:1266639-1266639
GRCh38: 5:1266524-1266524
12 TERT NM_198253.3(TERT):c.3268G>A (p.Val1090Met) SNV Pathogenic 12733 rs121918664 GRCh37: 5:1254510-1254510
GRCh38: 5:1254395-1254395
13 TERT NM_198253.3(TERT):c.2080G>A (p.Val694Met) SNV Pathogenic 12731 rs121918662 GRCh37: 5:1279456-1279456
GRCh38: 5:1279341-1279341
14 TERT NM_198253.2(TERT):c.2371G>A (p.Val791Ile) SNV Pathogenic 36946 rs141425941 GRCh37: 5:1272311-1272311
GRCh38: 5:1272196-1272196
15 TERT NM_198253.3(TERT):c.2146G>A (p.Ala716Thr) SNV Pathogenic 36948 rs387907249 GRCh37: 5:1278896-1278896
GRCh38: 5:1278781-1278781
16 TERT NM_198253.3(TERT):c.2051A>G (p.Asp684Gly) SNV Likely pathogenic 446372 rs776981958 GRCh37: 5:1279485-1279485
GRCh38: 5:1279370-1279370
17 TERT NM_198253.3(TERT):c.345C>G (p.Phe115Leu) SNV Likely pathogenic 816669 rs1579598699 GRCh37: 5:1294656-1294656
GRCh38: 5:1294541-1294541
18 TERT NM_198253.3(TERT):c.3399A>G (p.Ter1133Trp) SNV Likely pathogenic 446375 rs1554038048 GRCh37: 5:1253843-1253843
GRCh38: 5:1253728-1253728
19 RTEL1-TNFRSF6B , RTEL1 NM_016434.3(RTEL1):c.2627_2629AGA[1] (p.Lys877del) Microsatellite Uncertain significance 555961 rs1555812473 GRCh37: 20:62323163-62323165
GRCh38: 20:63691810-63691812
20 TERT NM_198253.3(TERT):c.*104C>T SNV Uncertain significance 350514 rs886059830 GRCh37: 5:1253739-1253739
GRCh38: 5:1253624-1253624
21 TERT NM_198253.3(TERT):c.3191C>T (p.Pro1064Leu) SNV Uncertain significance 350517 rs886059831 GRCh37: 5:1254587-1254587
GRCh38: 5:1254472-1254472
22 TERT NM_198253.3(TERT):c.483G>C (p.Leu161=) SNV Uncertain significance 904102 GRCh37: 5:1294518-1294518
GRCh38: 5:1294403-1294403
23 TERT NM_198253.3(TERT):c.*339T>C SNV Uncertain significance 904607 GRCh37: 5:1253504-1253504
GRCh38: 5:1253389-1253389
24 TERT NM_198253.3(TERT):c.*308A>G SNV Uncertain significance 904608 GRCh37: 5:1253535-1253535
GRCh38: 5:1253420-1253420
25 TERT NM_198253.3(TERT):c.*237C>T SNV Uncertain significance 904609 GRCh37: 5:1253606-1253606
GRCh38: 5:1253491-1253491
26 TERT NM_198253.3(TERT):c.875C>G (p.Thr292Arg) SNV Uncertain significance 904814 GRCh37: 5:1294126-1294126
GRCh38: 5:1294011-1294011
27 TERT NM_198253.3(TERT):c.1401C>T (p.Ala467=) SNV Uncertain significance 905855 GRCh37: 5:1293600-1293600
GRCh38: 5:1293485-1293485
28 TERT NM_198253.3(TERT):c.*83G>A SNV Uncertain significance 905913 GRCh37: 5:1253760-1253760
GRCh38: 5:1253645-1253645
29 TERT NM_198253.3(TERT):c.*64G>A SNV Uncertain significance 905914 GRCh37: 5:1253779-1253779
GRCh38: 5:1253664-1253664
30 TERT NM_198253.3(TERT):c.3101G>A (p.Arg1034His) SNV Uncertain significance 905979 GRCh37: 5:1255458-1255458
GRCh38: 5:1255343-1255343
31 TERT NM_198253.3(TERT):c.2003A>C (p.Glu668Ala) SNV Uncertain significance 906295 GRCh37: 5:1279533-1279533
GRCh38: 5:1279418-1279418
32 TERT NM_198253.3(TERT):c.764C>A (p.Ser255Tyr) SNV Uncertain significance 906428 GRCh37: 5:1294237-1294237
GRCh38: 5:1294122-1294122
33 TERT NM_198253.3(TERT):c.696G>T (p.Leu232=) SNV Uncertain significance 906429 GRCh37: 5:1294305-1294305
GRCh38: 5:1294190-1294190
34 TERT NM_198253.3(TERT):c.2523C>G (p.Leu841=) SNV Uncertain significance 539239 rs1554039733 GRCh37: 5:1268694-1268694
GRCh38: 5:1268579-1268579
35 TERT NM_198253.3(TERT):c.2127C>G (p.Val709=) SNV Uncertain significance 242224 rs765264494 GRCh37: 5:1279409-1279409
GRCh38: 5:1279294-1279294
36 TERT NM_198253.3(TERT):c.908A>T (p.His303Leu) SNV Uncertain significance 847395 GRCh37: 5:1294093-1294093
GRCh38: 5:1293978-1293978
37 TERT NM_198253.3(TERT):c.880C>T (p.His294Tyr) SNV Uncertain significance 350802 rs886059906 GRCh37: 5:1294121-1294121
GRCh38: 5:1294006-1294006
38 TERT NM_198253.2(TERT):c.2287-5G>A SNV Uncertain significance 446374 rs561426406 GRCh37: 5:1272400-1272400
GRCh38: 5:1272285-1272285
39 LOC110806263 , TERT NM_198253.3(TERT):c.159G>C (p.Gln53His) SNV Uncertain significance 410683 rs1060503006 GRCh37: 5:1294946-1294946
GRCh38: 5:1294831-1294831
40 LOC110806263 , TERT NM_198253.3(TERT):c.150G>A (p.Leu50=) SNV Uncertain significance 289326 rs886044153 GRCh37: 5:1294955-1294955
GRCh38: 5:1294840-1294840
41 TERT NM_198253.2(TERT):c.2287-5G>A SNV Uncertain significance 446374 rs561426406 GRCh37: 5:1272400-1272400
GRCh38: 5:1272285-1272285
42 TERT NM_198253.3(TERT):c.1393G>C (p.Val465Leu) SNV Uncertain significance 539202 rs758110675 GRCh37: 5:1293608-1293608
GRCh38: 5:1293493-1293493
43 TERT NM_198253.3(TERT):c.887A>C (p.His296Pro) SNV Uncertain significance 268080 rs778187343 GRCh37: 5:1294114-1294114
GRCh38: 5:1293999-1293999
44 TERT NM_198253.3(TERT):c.508G>A (p.Val170Met) SNV Uncertain significance 36947 rs387907248 GRCh37: 5:1294493-1294493
GRCh38: 5:1294378-1294378
45 TERT NM_198253.3(TERT):c.2221G>A (p.Val741Met) SNV Uncertain significance 471857 rs150819225 GRCh37: 5:1278821-1278821
GRCh38: 5:1278706-1278706
46 TERT NM_198253.3(TERT):c.1317_1319GGA[2] (p.Glu441del) Microsatellite Uncertain significance 212398 rs377639087 GRCh37: 5:1293676-1293678
GRCh38: 5:1293561-1293563
47 TERT NM_198253.3(TERT):c.3334C>A (p.Leu1112Met) SNV Uncertain significance 816668 rs1579541689 GRCh37: 5:1253908-1253908
GRCh38: 5:1253793-1253793
48 TERT NM_198253.3(TERT):c.902G>A (p.Arg301His) SNV Uncertain significance 638818 rs1268051204 GRCh37: 5:1294099-1294099
GRCh38: 5:1293984-1293984
49 LOC110806263 , TERT NM_198253.3(TERT):c.189G>A (p.Arg63=) SNV Uncertain significance 539242 rs1554043134 GRCh37: 5:1294916-1294916
GRCh38: 5:1294801-1294801
50 TERT NM_198253.3(TERT):c.2001C>T (p.Tyr667=) SNV Uncertain significance 242221 rs758494245 GRCh37: 5:1279535-1279535
GRCh38: 5:1279420-1279420

UniProtKB/Swiss-Prot genetic disease variations for Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 1:

72 (show all 14)
# Symbol AA change Variation ID SNP ID
1 TERT p.His412Tyr VAR_025149 rs34094720
2 TERT p.Ala202Thr VAR_036863 rs121918661
3 TERT p.Val694Met VAR_036866 rs121918662
4 TERT p.Tyr772Cys VAR_036867 rs121918663
5 TERT p.Arg865His VAR_036868 rs121918666
6 TERT p.Val1090Met VAR_036870 rs121918664
7 TERT p.Val170Met VAR_068792 rs387907248
8 TERT p.Ala716Thr VAR_068794 rs387907249
9 TERT p.Val791Ile VAR_068795 rs141425941
10 TERT p.Leu841Phe VAR_068796
11 TERT p.Val867Met VAR_068797 rs201159197
12 TERT p.Lys902Arg VAR_068798 rs387907250
13 TERT p.Pro923Leu VAR_068799 rs387907251
14 TERT p.Val1025Phe VAR_068800

Expression for Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related,...

Search GEO for disease gene expression data for Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 1.

Pathways for Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related,...

Pathways related to Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.42 TERT RTEL1

GO Terms for Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related,...

Cellular components related to Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromosome, telomeric region GO:0000781 8.62 TERT RTEL1

Biological processes related to Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA replication GO:0006260 9.37 RTEL1-TNFRSF6B RTEL1
2 DNA recombination GO:0006310 9.32 RTEL1-TNFRSF6B RTEL1
3 DNA duplex unwinding GO:0032508 9.26 RTEL1-TNFRSF6B RTEL1
4 nucleobase-containing compound metabolic process GO:0006139 9.16 RTEL1-TNFRSF6B RTEL1
5 regulation of double-strand break repair via homologous recombination GO:0010569 8.96 RTEL1-TNFRSF6B RTEL1
6 telomere maintenance GO:0000723 8.8 TERT RTEL1-TNFRSF6B RTEL1

Molecular functions related to Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 helicase activity GO:0004386 9.32 RTEL1-TNFRSF6B RTEL1
2 iron-sulfur cluster binding GO:0051536 9.26 RTEL1-TNFRSF6B RTEL1
3 DNA helicase activity GO:0003678 9.16 RTEL1-TNFRSF6B RTEL1
4 4 iron, 4 sulfur cluster binding GO:0051539 8.96 RTEL1-TNFRSF6B RTEL1
5 hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides GO:0016818 8.62 RTEL1-TNFRSF6B RTEL1

Sources for Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related,...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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