XPF
MCID: OBS225
MIFTS: 14

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 59
Xpf 59

Classifications:



External Ids:

Orphanet 59 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).

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 51)
# 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 small cell cancer of the lung 10.1
13 squamous cell carcinoma, head and neck 10.1
14 lung cancer susceptibility 1 10.1
15 gastric cancer 10.1
16 deficiency anemia 10.1
17 squamous cell carcinoma 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 lymphocytic leukemia 10.0
40 pre-eclampsia 10.0
41 choreatic disease 10.0
42 kidney cancer 10.0
43 testicular cancer 10.0
44 breast disease 10.0
45 gastric adenocarcinoma 10.0
46 gastric cardia adenocarcinoma 10.0
47 oropharynx cancer 10.0
48 myeloid leukemia 10.0
49 cerebro-oculo-facio-skeletal syndrome 10.0
50 leukemia, b-cell, chronic 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

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 77)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ERCC4 NC_000016.9: g.(?_14021879)_(14022098_?)del deletion Pathogenic 16:14021879-14022098 16:13928022-13928241
2 ERCC4 NM_005236.2(ERCC4): c.1731del (p.Arg576_Tyr577insTer) deletion Pathogenic rs1555468482 16:14029520-14029520 16:13935663-13935663
3 ERCC4 NM_005236.2(ERCC4): c.2300_2301TC[2] (p.Thr770fs) short repeat Pathogenic rs869025184 16:14041757-14041760 16:13947900-13947903
4 ERCC4 NC_000016.9: g.(?_14014013)_(14042214_?)del deletion Pathogenic 16:14014013-14042214 16:13920156-13948357
5 ERCC4 NM_005236.2(ERCC4): c.1765C> T (p.Arg589Trp) single nucleotide variant Pathogenic/Likely pathogenic rs147105770 16:14029554-14029554 16:13935697-13935697
6 ERCC4 NM_005236.2(ERCC4): c.2395C> T (p.Arg799Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs121913049 16:14041848-14041848 16:13947991-13947991
7 ERCC4 NM_005236.2(ERCC4): c.2427G> A (p.Thr809=) single nucleotide variant Conflicting interpretations of pathogenicity rs2020960 16:14041880-14041880 16:13948023-13948023
8 ERCC4 NM_005236.2(ERCC4): c.2463A> G (p.Pro821=) single nucleotide variant Conflicting interpretations of pathogenicity rs2020953 16:14041916-14041916 16:13948059-13948059
9 ERCC4 NM_005236.2(ERCC4): c.2724C> T (p.Val908=) single nucleotide variant Conflicting interpretations of pathogenicity rs3136225 16:14042177-14042177 16:13948320-13948320
10 ERCC4 NM_005236.2(ERCC4): c.1135C> T (p.Pro379Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs1799802 16:14028081-14028081 16:13934224-13934224
11 ERCC4 NM_005236.2(ERCC4): c.2117T> C (p.Ile706Thr) single nucleotide variant Uncertain significance rs1800069 16:14041570-14041570 16:13947713-13947713
12 ERCC4 NM_005236.2(ERCC4): c.217A> G (p.Ile73Val) single nucleotide variant Uncertain significance rs141591400 16:14015897-14015897 16:13922040-13922040
13 ERCC4 NM_005236.2(ERCC4): c.1563C> G (p.Ser521Arg) single nucleotide variant Uncertain significance rs41552412 16:14029352-14029352 16:13935495-13935495
14 ERCC4 NM_005236.2(ERCC4): c.1727G> C (p.Arg576Thr) single nucleotide variant Uncertain significance rs1800068 16:14029516-14029516 16:13935659-13935659
15 ERCC4 NM_005236.2(ERCC4): c.2591G> A (p.Arg864His) single nucleotide variant Uncertain significance rs1211543560 16:14042044-14042044 16:13948187-13948187
16 ERCC4 NM_005236.2(ERCC4): c.1284G> A (p.Ala428=) single nucleotide variant Uncertain significance rs3136151 16:14029073-14029073 16:13935216-13935216
17 ERCC4 NM_005236.2(ERCC4): c.503C> G (p.Ala168Gly) single nucleotide variant Uncertain significance rs2020961 16:14020532-14020532 16:13926675-13926675
18 ERCC4 NM_005236.2(ERCC4): c.413G> A (p.Arg138Lys) single nucleotide variant Uncertain significance 16:14020442-14020442 16:13926585-13926585
19 ERCC4 NM_005236.2(ERCC4): c.890A> G (p.Tyr297Cys) single nucleotide variant Uncertain significance 16:14024664-14024664 16:13930807-13930807
20 ERCC4 NM_005236.2(ERCC4): c.2677A> G (p.Asn893Asp) single nucleotide variant Uncertain significance 16:14042130-14042130 16:13948273-13948273
21 ERCC4 NM_005236.2(ERCC4): c.1045G> A (p.Ala349Thr) single nucleotide variant Uncertain significance 16:14026085-14026085 16:13932228-13932228
22 ERCC4 NM_005236.2(ERCC4): c.2288C> T (p.Pro763Leu) single nucleotide variant Uncertain significance 16:14041741-14041741 16:13947884-13947884
23 ERCC4 NM_005236.2(ERCC4): c.19G> A (p.Ala7Thr) single nucleotide variant Uncertain significance 16:14014041-14014041 16:13920184-13920184
24 ERCC4 NM_005236.2(ERCC4): c.257G> A (p.Arg86His) single nucleotide variant Uncertain significance 16:14015937-14015937 16:13922080-13922080
25 ERCC4 NM_005236.2(ERCC4): c.703G> A (p.Ala235Thr) single nucleotide variant Uncertain significance 16:14022003-14022003 16:13928146-13928146
26 ERCC4 NM_005236.2(ERCC4): c.790A> G (p.Lys264Glu) single nucleotide variant Uncertain significance 16:14022090-14022090 16:13928233-13928233
27 ERCC4 NM_005236.2(ERCC4): c.798C> G (p.Ile266Met) single nucleotide variant Uncertain significance 16:14024572-14024572 16:13930715-13930715
28 ERCC4 NM_005236.2(ERCC4): c.1681A> T (p.Ser561Cys) single nucleotide variant Uncertain significance 16:14029470-14029470 16:13935613-13935613
29 ERCC4 NM_005236.2(ERCC4): c.1787C> A (p.Ala596Glu) single nucleotide variant Uncertain significance 16:14029576-14029576 16:13935719-13935719
30 ERCC4 NM_005236.2(ERCC4): c.2169C> A (p.Cys723Ter) single nucleotide variant Uncertain significance 16:14041622-14041622 16:13947765-13947765
31 ERCC4 NM_005236.2(ERCC4): c.2177G> A (p.Arg726His) single nucleotide variant Uncertain significance 16:14041630-14041630 16:13947773-13947773
32 ERCC4 NM_005236.2(ERCC4): c.2186T> C (p.Ile729Thr) single nucleotide variant Uncertain significance 16:14041639-14041639 16:13947782-13947782
33 ERCC4 NM_005236.2(ERCC4): c.2295G> T (p.Lys765Asn) single nucleotide variant Uncertain significance 16:14041748-14041748 16:13947891-13947891
34 ERCC4 NM_005236.2(ERCC4): c.2423C> G (p.Ala808Gly) single nucleotide variant Uncertain significance 16:14041876-14041876 16:13948019-13948019
35 ERCC4 NM_005236.2(ERCC4): c.2603A> C (p.His868Pro) single nucleotide variant Uncertain significance 16:14042056-14042056 16:13948199-13948199
36 ERCC4 NM_005236.2(ERCC4): c.2603A> G (p.His868Arg) single nucleotide variant Uncertain significance 16:14042056-14042056 16:13948199-13948199
37 ERCC4 NM_005236.2(ERCC4): c.2725G> A (p.Val909Ile) single nucleotide variant Uncertain significance 16:14042178-14042178 16:13948321-13948321
38 ERCC4 NM_005236.2(ERCC4): c.2125G> A (p.Val709Met) single nucleotide variant Uncertain significance rs373906926 16:14041578-14041578 16:13947721-13947721
39 ERCC4 NM_005236.2(ERCC4): c.532G> T (p.Val178Leu) single nucleotide variant Uncertain significance rs149927607 16:14020561-14020561 16:13926704-13926704
40 ERCC4 NM_005236.2(ERCC4): c.1031A> T (p.Tyr344Phe) single nucleotide variant Uncertain significance rs145851520 16:14026071-14026071 16:13932214-13932214
41 ERCC4 NM_005236.2(ERCC4): c.241G> A (p.Val81Ile) single nucleotide variant Uncertain significance rs55761944 16:14015921-14015921 16:13922064-13922064
42 ERCC4 NM_005236.2(ERCC4): c.41C> T (p.Pro14Leu) single nucleotide variant Uncertain significance rs754622238 16:14014063-14014063 16:13920206-13920206
43 ERCC4 NM_005236.2(ERCC4): c.889T> A (p.Tyr297Asn) single nucleotide variant Uncertain significance rs778480216 16:14024663-14024663 16:13930806-13930806
44 ERCC4 NM_005236.2(ERCC4): c.1212A> G (p.Pro404=) single nucleotide variant Uncertain significance rs752193295 16:14028158-14028158 16:13934301-13934301
45 ERCC4 NM_005236.2(ERCC4): c.16C> T (p.Pro6Ser) single nucleotide variant Uncertain significance rs61760160 16:14014038-14014038 16:13920181-13920181
46 ERCC4 NM_005236.2(ERCC4): c.875G> A (p.Arg292Gln) single nucleotide variant Uncertain significance rs202243691 16:14024649-14024649 16:13930792-13930792
47 ERCC4 NM_005236.2(ERCC4): c.714G> A (p.Lys238=) single nucleotide variant Uncertain significance rs780166871 16:14022014-14022014 16:13928157-13928157
48 ERCC4 NM_005236.2(ERCC4): c.1265A> T (p.Asp422Val) single nucleotide variant Uncertain significance rs767408205 16:14029054-14029054 16:13935197-13935197
49 ERCC4 NM_005236.2(ERCC4): c.260G> A (p.Arg87His) single nucleotide variant Uncertain significance rs371487368 16:14015940-14015940 16:13922083-13922083
50 ERCC4 NM_005236.2(ERCC4): c.1633G> A (p.Gly545Arg) single nucleotide variant Uncertain significance rs773007457 16:14029422-14029422 16:13935565-13935565

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

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