XPF
MCID: OBS225
MIFTS: 16

Obsolete: Xeroderma Pigmentosum Complementation Group F (XPF)

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Obsolete: Xeroderma Pigmentosum Complementation Group F

MalaCards integrated aliases for Obsolete: Xeroderma Pigmentosum Complementation Group F:

Name: Obsolete: Xeroderma Pigmentosum Complementation Group F 58
Xpf 58

Classifications:



External Ids:

Orphanet 58 ORPHA276264

Summaries for Obsolete: Xeroderma Pigmentosum Complementation Group F

MalaCards based summary : Obsolete: Xeroderma Pigmentosum Complementation Group F, also known as xpf, is related to xeroderma pigmentosum, complementation group f and xeroderma pigmentosum, complementation group a. An important gene associated with Obsolete: Xeroderma Pigmentosum Complementation Group F is ERCC4 (ERCC Excision Repair 4, Endonuclease Catalytic Subunit). Affiliated tissues include lung, skin and myeloid.

Related Diseases for Obsolete: Xeroderma Pigmentosum Complementation Group F

Diseases in the Obsolete: Xeroderma Pigmentosum Complementation Group B family:

Obsolete: Xeroderma Pigmentosum Complementation Group a Obsolete: Xeroderma Pigmentosum Complementation Group F
Obsolete: Xeroderma Pigmentosum Complementation Group E Obsolete: Xeroderma Pigmentosum Complementation Group D
Obsolete: Xeroderma Pigmentosum Complementation Group C Obsolete: Xeroderma Pigmentosum Complementation Group G

Diseases related to Obsolete: Xeroderma Pigmentosum Complementation Group F via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 52)
# Related Disease Score Top Affiliating Genes
1 xeroderma pigmentosum, complementation group f 12.4
2 xeroderma pigmentosum, complementation group a 11.6
3 xeroderma pigmentosum, variant type 10.8
4 fanconi anemia, complementation group a 10.4
5 cockayne syndrome 10.4
6 helix syndrome 10.3
7 obsolete: squamous cell carcinoma of head and neck 10.3
8 bladder cancer 10.3
9 lung cancer 10.3
10 hutchinson-gilford progeria syndrome 10.2
11 fanconi anemia, complementation group q 10.2
12 squamous cell carcinoma 10.2
13 small cell cancer of the lung 10.1
14 squamous cell carcinoma, head and neck 10.1
15 lung cancer susceptibility 1 10.1
16 gastric cancer 10.1
17 deficiency anemia 10.1
18 melanoma 10.1
19 skin carcinoma 10.1
20 skin melanoma 10.1
21 premature aging 10.1
22 colorectal cancer 10.0
23 renal cell carcinoma, nonpapillary 10.0
24 leukemia, chronic lymphocytic 10.0
25 dowling-degos disease 1 10.0
26 osteogenic sarcoma 10.0
27 pancreatic cancer 10.0
28 xeroderma pigmentosum, complementation group c 10.0
29 xeroderma pigmentosum, complementation group d 10.0
30 xeroderma pigmentosum, complementation group g 10.0
31 ataxia and polyneuropathy, adult-onset 10.0
32 leukemia, acute myeloid 10.0
33 trichothiodystrophy 1, photosensitive 10.0
34 nasopharyngeal carcinoma 10.0
35 xeroderma pigmentosum, complementation group b 10.0
36 xfe progeroid syndrome 10.0
37 fanconi anemia, complementation group p 10.0
38 chorea, childhood-onset, with psychomotor retardation 10.0
39 tongue squamous cell carcinoma 10.0
40 lymphocytic leukemia 10.0
41 pre-eclampsia 10.0
42 choreatic disease 10.0
43 kidney cancer 10.0
44 testicular cancer 10.0
45 breast disease 10.0
46 gastric adenocarcinoma 10.0
47 gastric cardia adenocarcinoma 10.0
48 oropharynx cancer 10.0
49 myeloid leukemia 10.0
50 cerebro-oculo-facio-skeletal syndrome 10.0

Graphical network of the top 20 diseases related to Obsolete: Xeroderma Pigmentosum Complementation Group F:



Diseases related to Obsolete: Xeroderma Pigmentosum Complementation Group F

Symptoms & Phenotypes for Obsolete: Xeroderma Pigmentosum Complementation Group F

Drugs & Therapeutics for Obsolete: Xeroderma Pigmentosum Complementation Group F

Search Clinical Trials , NIH Clinical Center for Obsolete: Xeroderma Pigmentosum Complementation Group F

Genetic Tests for Obsolete: Xeroderma Pigmentosum Complementation Group F

Anatomical Context for Obsolete: Xeroderma Pigmentosum Complementation Group F

MalaCards organs/tissues related to Obsolete: Xeroderma Pigmentosum Complementation Group F:

40
Lung, Skin, Myeloid, Kidney, Breast, Tongue

Publications for Obsolete: Xeroderma Pigmentosum Complementation Group F

Variations for Obsolete: Xeroderma Pigmentosum Complementation Group F

ClinVar genetic disease variations for Obsolete: Xeroderma Pigmentosum Complementation Group F:

6 (show top 50) (show all 58) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ERCC4 NM_005236.2(ERCC4):c.2304_2307delshort repeat Pathogenic 16579 rs869025184 16:14041753-14041756 16:13947896-13947899
2 ERCC4 NC_000016.9:g.(?_14021879)_(14022098_?)deldeletion Pathogenic 541254 16:14021879-14022098 16:13928022-13928241
3 ERCC4 NM_005236.2(ERCC4):c.1731del (p.Arg576_Tyr577insTer)deletion Pathogenic 541251 rs1555468482 16:14029520-14029520 16:13935663-13935663
4 ERCC4 NC_000016.9:g.(?_14014013)_(14042214_?)deldeletion Pathogenic 661743 16:14014013-14042214 16:13920156-13948357
5 ERCC4 NM_005236.2(ERCC4):c.1765C>T (p.Arg589Trp)SNV Pathogenic/Likely pathogenic 55829 rs147105770 16:14029554-14029554 16:13935697-13935697
6 ERCC4 NM_005236.2(ERCC4):c.2395C>T (p.Arg799Trp)SNV Conflicting interpretations of pathogenicity 16580 rs121913049 16:14041848-14041848 16:13947991-13947991
7 ERCC4 NM_005236.2(ERCC4):c.2427G>A (p.Thr809=)SNV Conflicting interpretations of pathogenicity 435080 rs2020960 16:14041880-14041880 16:13948023-13948023
8 ERCC4 NM_005236.2(ERCC4):c.532G>T (p.Val178Leu)SNV Uncertain significance 474207 rs149927607 16:14020561-14020561 16:13926704-13926704
9 ERCC4 NM_005236.2(ERCC4):c.1031A>T (p.Tyr344Phe)SNV Uncertain significance 474200 rs145851520 16:14026071-14026071 16:13932214-13932214
10 ERCC4 NM_005236.2(ERCC4):c.260G>A (p.Arg87His)SNV Uncertain significance 541246 rs371487368 16:14015940-14015940 16:13922083-13922083
11 ERCC4 NM_005236.2(ERCC4):c.1633G>A (p.Gly545Arg)SNV Uncertain significance 541249 rs773007457 16:14029422-14029422 16:13935565-13935565
12 ERCC4 NM_005236.2(ERCC4):c.875G>A (p.Arg292Gln)SNV Uncertain significance 541248 rs202243691 16:14024649-14024649 16:13930792-13930792
13 ERCC4 NM_005236.2(ERCC4):c.2125G>A (p.Val709Met)SNV Uncertain significance 474203 rs373906926 16:14041578-14041578 16:13947721-13947721
14 ERCC4 NM_005236.2(ERCC4):c.714G>A (p.Lys238=)SNV Uncertain significance 541247 rs780166871 16:14022014-14022014 16:13928157-13928157
15 ERCC4 NM_005236.2(ERCC4):c.1265A>T (p.Asp422Val)SNV Uncertain significance 541250 rs767408205 16:14029054-14029054 16:13935197-13935197
16 ERCC4 NM_005236.2(ERCC4):c.16C>T (p.Pro6Ser)SNV Uncertain significance 134131 rs61760160 16:14014038-14014038 16:13920181-13920181
17 ERCC4 NM_005236.2(ERCC4):c.217A>G (p.Ile73Val)SNV Uncertain significance 134143 rs141591400 16:14015897-14015897 16:13922040-13922040
18 ERCC4 NM_005236.2(ERCC4):c.1563C>G (p.Ser521Arg)SNV Uncertain significance 134153 rs41552412 16:14029352-14029352 16:13935495-13935495
19 ERCC4 NM_005236.2(ERCC4):c.1727G>C (p.Arg576Thr)SNV Uncertain significance 134158 rs1800068 16:14029516-14029516 16:13935659-13935659
20 ERCC4 NM_005236.2(ERCC4):c.503C>G (p.Ala168Gly)SNV Uncertain significance 240126 rs2020961 16:14020532-14020532 16:13926675-13926675
21 ERCC4 NM_005236.2(ERCC4):c.241G>A (p.Val81Ile)SNV Uncertain significance 408562 rs55761944 16:14015921-14015921 16:13922064-13922064
22 ERCC4 NM_005236.2(ERCC4):c.41C>T (p.Pro14Leu)SNV Uncertain significance 408565 rs754622238 16:14014063-14014063 16:13920206-13920206
23 ERCC4 NM_005236.2(ERCC4):c.889T>A (p.Tyr297Asn)SNV Uncertain significance 408563 rs778480216 16:14024663-14024663 16:13930806-13930806
24 ERCC4 NM_005236.2(ERCC4):c.1212A>G (p.Pro404=)SNV Uncertain significance 408564 rs752193295 16:14028158-14028158 16:13934301-13934301
25 ERCC4 NM_005236.2(ERCC4):c.2591G>A (p.Arg864His)SNV Uncertain significance 541245 rs1211543560 16:14042044-14042044 16:13948187-13948187
26 ERCC4 NM_005236.2(ERCC4):c.413G>A (p.Arg138Lys)SNV Uncertain significance 566287 rs1567243693 16:14020442-14020442 16:13926585-13926585
27 ERCC4 NM_005236.2(ERCC4):c.890A>G (p.Tyr297Cys)SNV Uncertain significance 575691 rs996851583 16:14024664-14024664 16:13930807-13930807
28 ERCC4 NM_005236.2(ERCC4):c.2677A>G (p.Asn893Asp)SNV Uncertain significance 579347 rs201926295 16:14042130-14042130 16:13948273-13948273
29 ERCC4 NM_005236.2(ERCC4):c.1045G>A (p.Ala349Thr)SNV Uncertain significance 573650 rs201410515 16:14026085-14026085 16:13932228-13932228
30 ERCC4 NM_005236.2(ERCC4):c.2288C>T (p.Pro763Leu)SNV Uncertain significance 569796 rs761087753 16:14041741-14041741 16:13947884-13947884
31 ERCC4 NM_005236.2(ERCC4):c.19G>A (p.Ala7Thr)SNV Uncertain significance 568412 rs771117594 16:14014041-14014041 16:13920184-13920184
32 ERCC4 NM_005236.2(ERCC4):c.257G>A (p.Arg86His)SNV Uncertain significance 647625 16:14015937-14015937 16:13922080-13922080
33 ERCC4 NM_005236.2(ERCC4):c.703G>A (p.Ala235Thr)SNV Uncertain significance 646508 16:14022003-14022003 16:13928146-13928146
34 ERCC4 NM_005236.2(ERCC4):c.790A>G (p.Lys264Glu)SNV Uncertain significance 656025 16:14022090-14022090 16:13928233-13928233
35 ERCC4 NM_005236.2(ERCC4):c.798C>G (p.Ile266Met)SNV Uncertain significance 652281 16:14024572-14024572 16:13930715-13930715
36 ERCC4 NM_005236.2(ERCC4):c.1681A>T (p.Ser561Cys)SNV Uncertain significance 653625 16:14029470-14029470 16:13935613-13935613
37 ERCC4 NM_005236.2(ERCC4):c.1787C>A (p.Ala596Glu)SNV Uncertain significance 662825 16:14029576-14029576 16:13935719-13935719
38 ERCC4 NM_005236.2(ERCC4):c.2169C>A (p.Cys723Ter)SNV Uncertain significance 664022 16:14041622-14041622 16:13947765-13947765
39 ERCC4 NM_005236.2(ERCC4):c.2177G>A (p.Arg726His)SNV Uncertain significance 658680 16:14041630-14041630 16:13947773-13947773
40 ERCC4 NM_005236.2(ERCC4):c.2186T>C (p.Ile729Thr)SNV Uncertain significance 647874 16:14041639-14041639 16:13947782-13947782
41 ERCC4 NM_005236.2(ERCC4):c.2295G>T (p.Lys765Asn)SNV Uncertain significance 653697 16:14041748-14041748 16:13947891-13947891
42 ERCC4 NM_005236.2(ERCC4):c.2423C>G (p.Ala808Gly)SNV Uncertain significance 655804 16:14041876-14041876 16:13948019-13948019
43 ERCC4 NM_005236.2(ERCC4):c.2603A>C (p.His868Pro)SNV Uncertain significance 645946 16:14042056-14042056 16:13948199-13948199
44 ERCC4 NM_005236.2(ERCC4):c.2603A>G (p.His868Arg)SNV Uncertain significance 646565 16:14042056-14042056 16:13948199-13948199
45 ERCC4 NM_005236.2(ERCC4):c.2725G>A (p.Val909Ile)SNV Uncertain significance 642503 16:14042178-14042178 16:13948321-13948321
46 ERCC4 NM_005236.2(ERCC4):c.1677T>C (p.Gly559=)SNV Likely benign 415021 rs776049363 16:14029466-14029466 16:13935609-13935609
47 ERCC4 NM_005236.2(ERCC4):c.1606G>C (p.Val536Leu)SNV Likely benign 134157 rs143347563 16:14029395-14029395 16:13935538-13935538
48 ERCC4 NM_005236.2(ERCC4):c.2579C>A (p.Ala860Asp)SNV Likely benign 134138 rs4986933 16:14042032-14042032 16:13948175-13948175
49 ERCC4 NM_005236.2(ERCC4):c.1983A>G (p.Ala661=)SNV Likely benign 541253 rs373237850 16:14038658-14038658 16:13944801-13944801
50 ERCC4 NM_005236.3(ERCC4):c.2647G>A (p.Glu883Lys)SNV Likely benign 697490 16:14042100-14042100 16:13948243-13948243

Expression for Obsolete: Xeroderma Pigmentosum Complementation Group F

Search GEO for disease gene expression data for Obsolete: Xeroderma Pigmentosum Complementation Group F.

Pathways for Obsolete: Xeroderma Pigmentosum Complementation Group F

GO Terms for Obsolete: Xeroderma Pigmentosum Complementation Group F

Sources for Obsolete: Xeroderma Pigmentosum Complementation Group F

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....