TGM1 (transglutaminase 1)

Gene

• Entrez ID: 7051
• Gene name: Transglutaminase 1
• Gene symbol: TGM1
• Synonyms (NCBI Gene): ARCI1, ICR2, KTG, LI, LI1, TGASE, TGK
• Chromosome: 14
• Chromosome location: 14q12
• Summary: The protein encoded by this gene is a membrane protein that catalyzes the addition of an alkyl group from an akylamine to a glutamine residue of a protein, forming an alkylglutamine in the protein. This protein alkylation leads to crosslinking of proteins

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs41295338	G>C,T	Likely-benign, pathogenic, benign-likely-benign	Coding sequence variant, missense variant
rs112419023	C>A,G,T	Pathogenic	Splice acceptor variant
rs121918716	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs121918717	C>T	Pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs121918718	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs121918719	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs121918720	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs121918721	C>A,T	Likely-pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs121918722	C>T	Pathogenic	Missense variant, coding sequence variant
rs121918723	C>G,T	Pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs121918725	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs121918726	C>T	Pathogenic	Missense variant, coding sequence variant
rs121918727	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs121918728	G>C	Pathogenic	Missense variant, coding sequence variant
rs121918730	T>C,G	Pathogenic	Missense variant, coding sequence variant
rs121918731	G>A,C,T	Pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant, synonymous variant
rs121918732	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs139208806	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs140000324	G>A	Pathogenic	Stop gained, coding sequence variant
rs142634031	T>C	Pathogenic	Splice acceptor variant
rs143473912	C>A,T	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs147916609	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs151054393	A>G	Pathogenic, likely-pathogenic	Splice donor variant
rs199678720	C>G,T	Likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs200491579	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs201432046	G>T	Likely-pathogenic	Coding sequence variant, stop gained
rs201853046	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs201868387	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs367699137	C>T	Pathogenic	Coding sequence variant, stop gained
rs397514522	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs397514523	A>T	Pathogenic	Coding sequence variant, missense variant
rs397514525	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs398122900	TGGAA>-	Pathogenic	Frameshift variant, coding sequence variant
rs398122901	T>A,C	Pathogenic	Coding sequence variant, missense variant
rs398122902	ACAGGCC>-	Pathogenic	Splice donor variant, coding sequence variant
rs398122903	->T	Pathogenic	Frameshift variant, coding sequence variant
rs398122904	G>A	Pathogenic	Coding sequence variant, stop gained
rs398122905	TGTGT>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs531650682	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs543521135	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs587779765	T>G	Pathogenic	Coding sequence variant, missense variant
rs752349623	T>C	Likely-pathogenic	Splice acceptor variant
rs753798494	T>A	Likely-pathogenic	Missense variant, coding sequence variant
rs754922174	A>C,G	Likely-pathogenic	Missense variant, coding sequence variant
rs756732717	T>C	Pathogenic	Missense variant, coding sequence variant
rs760429286	G>A	Pathogenic	Stop gained, coding sequence variant
rs771820315	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs773303931	G>A,C	Pathogenic	Stop gained, coding sequence variant, missense variant
rs773777400	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs776068111	C>G,T	Likely-pathogenic	Splice acceptor variant
rs779287673	G>A,C	Pathogenic	Missense variant, coding sequence variant, synonymous variant
rs780990272	C>T	Likely-pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs786205485	GA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs863223405	A>G	Pathogenic	Coding sequence variant, missense variant
rs867950920	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs878853259	A>T	Pathogenic	Coding sequence variant, missense variant
rs886039654	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained
rs886041250	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained
rs886041950	C>A	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained
rs886042116	T>C	Likely-pathogenic	Splice acceptor variant
rs904122716	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs972054392	G>A,C	Likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs1057517836	->TACTCATACT	Pathogenic	Coding sequence variant, stop gained
rs1057517837	A>G	Pathogenic	Missense variant, coding sequence variant
rs1064794422	GCAGCAGAAG>ACAGAGC	Likely-pathogenic	Inframe indel, coding sequence variant
rs1085308001	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1156392436	C>A	Likely-pathogenic	Splice acceptor variant
rs1199770893	A>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1202280089	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1211601030	C>-,CC	Pathogenic	Coding sequence variant, frameshift variant
rs1220151696	C>A,T	Likely-pathogenic	Splice donor variant
rs1230140208	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1247223599	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1296165092	G>A	Pathogenic	Stop gained, coding sequence variant
rs1322979131	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1381998109	T>C,G	Pathogenic	Coding sequence variant, missense variant
rs1479881544	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555305725	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1555305783	AG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555305836	G>C	Likely-pathogenic	Stop gained, coding sequence variant
rs1555306089	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1555306102	A>G	Likely-pathogenic	Splice donor variant
rs1555306113	GT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555306117	CT>-	Likely-pathogenic	Splice acceptor variant
rs1555306172	->AG	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555306238	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1566377068	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1566378425	C>T	Pathogenic	Splice donor variant
rs1566380103	G>A	Pathogenic	Stop gained, coding sequence variant
rs1566381457	C>T	Pathogenic	Stop gained, coding sequence variant
rs1594567244	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1594568541	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1594571148	G>C	Pathogenic	Missense variant, coding sequence variant
rs1594571770	CCCGTGG>-	Pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022617	hsa-miR-124-3p	Microarray	18668037
MIRT029438	hsa-miR-26b-5p	Microarray	19088304
MIRT1421791	hsa-miR-1224-3p	CLIP-seq
MIRT1421792	hsa-miR-1233	CLIP-seq
MIRT1421793	hsa-miR-3622a-3p	CLIP-seq
MIRT1421794	hsa-miR-3622b-3p	CLIP-seq
MIRT1421795	hsa-miR-3670	CLIP-seq
MIRT1421796	hsa-miR-3690	CLIP-seq
MIRT1421797	hsa-miR-378	CLIP-seq
MIRT1421798	hsa-miR-378b	CLIP-seq
MIRT1421799	hsa-miR-378c	CLIP-seq
MIRT1421800	hsa-miR-378d	CLIP-seq
MIRT1421801	hsa-miR-378e	CLIP-seq
MIRT1421802	hsa-miR-378f	CLIP-seq
MIRT1421803	hsa-miR-378h	CLIP-seq
MIRT1421804	hsa-miR-378i	CLIP-seq
MIRT1421805	hsa-miR-422a	CLIP-seq
MIRT1421806	hsa-miR-4286	CLIP-seq
MIRT1421807	hsa-miR-4308	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001533	Component	Cornified envelope	TAS	8824274
GO:0003810	Function	Protein-glutamine gamma-glutamyltransferase activity	IBA
GO:0003810	Function	Protein-glutamine gamma-glutamyltransferase activity	IDA	7961731, 9722562, 21282207
GO:0003810	Function	Protein-glutamine gamma-glutamyltransferase activity	IEA
GO:0005515	Function	Protein binding	IPI	7592852, 9722562, 10066784, 10510474, 32296183, 32814053
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	TAS
GO:0010838	Process	Positive regulation of keratinocyte proliferation	IMP	26220141
GO:0016020	Component	Membrane	IDA	8824274
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016746	Function	Acyltransferase activity	IEA
GO:0018149	Process	Peptide cross-linking	IDA	9722562
GO:0030216	Process	Keratinocyte differentiation	IBA
GO:0030216	Process	Keratinocyte differentiation	IDA	8824274
GO:0031424	Process	Keratinization	IEA
GO:0036211	Process	Protein modification process	NAS	1979171
GO:0042802	Function	Identical protein binding	IPI	32296183
GO:0043163	Process	Cell envelope organization	TAS	14645372
GO:0045787	Process	Positive regulation of cell cycle	IMP	26220141
GO:0046872	Function	Metal ion binding	IEA
GO:0048513	Process	Animal organ development	IEA
GO:0070062	Component	Extracellular exosome	HDA	19199708

Other IDs

• MIM: 190195
• HGNC: 11777
• e!Ensembl: ENSG00000092295

Protein

• UniProt ID: P22735
• Protein name: Protein-glutamine gamma-glutamyltransferase K (EC 2.3.2.13) (Epidermal TGase) (Transglutaminase K) (TG(K)) (TGK) (TGase K) (Transglutaminase-1) (TGase-1)
• Protein function: Catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins. Responsible for cross-linking epidermal proteins during formation of the stratum corneum. Involved in cell proliferation (PubMed:26220141). {ECO:0000269|PubMe
• PDB: 2XZZ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00868	Transglut_N	109 → 227	Transglutaminase family	Domain
  PF01841	Transglut_core	341 → 460	Transglutaminase-like superfamily	Family
  PF00927	Transglut_C	579 → 683	Transglutaminase family, C-terminal ig like domain	Domain
  PF00927	Transglut_C	691 → 788	Transglutaminase family, C-terminal ig like domain	Domain

• Sequence:

  MMDGPRSDVGRWGGNPLQPPTTPSPEPEPEPDGRSRRGGGRSFWARCCGCCSCRNAADDD
  WGPEPSDSRGRGSSSGTRRPGSRGSDSRRPVSRGSGVNAAGDGTIREGMLVVNGVDLLSS
  RSDQNRREHHTDEYEYDELIVRRGQPFHMLLLLSRTYESSDRITLELLIGNNPEVGKGTH
  VIIPVGKGGSGGWKAQVVKASGQNLNLRVHTSPNAIIGKFQFTVRTQSDAGEFQLPFDPR
  NEIYILFNPWCPEDIVYVDHEDWRQEYVLNESGRIYYGTEAQIGERTWNYGQFDHGVLDA
  CLYILDRRGMPYGGRGDPVNVSRVISAMVNSLDDNGVLIGNWSGDYSRGTNPSAWVGSVE
  ILLSYLRTGYSVPYGQCWVFAGVTTTVLRCLGLATRTVTNFNSAHDTDTSLTMDIYFDEN
  MKPLEHLNHDSVWNFHVWNDCWMKRPDLPSGFDGWQVVDATPQETSSGIFCCGPCSVESI
  KNGLVYMKYDTPFIFAEVNSDKVYWQRQDDGSFKIVYVEEKAIGTLIVTKAISSNMREDI
  TYLYKHPEGSDAERKAVETAAAHGSKPNVYANRGSAEDVAMQVEAQDAVMGQDLMVSVML
  INHSSSRRTVKLHLYLSVTFYTGVSGTIFKETKKEVELAPGASDRVTMPVAYKEYRPHLV
  DQGAMLLNVSGHVKESGQVLAKQHTFRLRTPDLSLTLLGAAVVGQECEVQIVFKNPLPVT
  LTNVVFRLEGSGLQRPKILNVGDIGGNETVTLRQSFVPVRPGPRQLIASLDSPQLSQVHG
  VIQVDVAPAPGDGGFFSDAGGDSHLGETIPMASRGGA

• Sequence length: 817

Pathways

Reactome:

Formation of the cornified envelope

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 the skin	Likely pathogenic; Pathogenic	rs121918719, rs121918718, rs121918722, rs121918723, rs1057517836	RCV001836706 RCV001813977 RCV001813978 RCV001813979 RCV001836809	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autosomal recessive congenital ichthyosis	Pathogenic	rs142634031	RCV001729500	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal recessive congenital ichthyosis 1	Pathogenic; Likely pathogenic	rs2040774076, rs2040730164, rs2139026104, rs2040737996, rs2040818118, rs746008257, rs563305936, rs749160734, rs2139025289, rs201167101, rs2139019336, rs2139027728, rs2139018911, rs774242987, rs2139026120, rs747781875, rs2139027688, rs1294460452, rs764040146, rs2502493778, rs2502501593, rs2502501902, rs2502494799, rs2502505774, rs2502494261, rs2502494887, rs2502500080, rs2502496221, rs2502500377, rs2502506183, rs2502508313, rs2502499539, rs141590446, rs2502494768, rs2502507740, rs2502496346, rs2502501739, rs2502494374, rs2502503991, rs2502507759, rs143473912, rs2502500172, rs863223405, rs2040811962, rs2502501969, rs766035647, rs141486741, rs753798494, rs780990272, rs886039654, rs142634031, rs886041250, rs886041950, rs200491579, rs757658720, rs2139023508, rs121918719, rs121918728, rs121918716, rs121918717, rs121918718, rs121918720, rs121918721, rs121918722, rs121918723, rs2139018490, rs121918724, rs121918725, rs121918726, rs121918727, rs121918730, rs121918731, rs121918732, rs2502493168, rs549195122, rs2502501518, rs2502507973, rs1566376724, rs1249489400, rs112419023, rs1441391864, rs2502503175, rs2502508287, rs2502494136, rs2502505462, rs2502506005, rs755366540, rs776068111, rs2502495143, rs2502500294, rs2502503425, rs2502484629, rs2502499460, rs2502509645, rs2040736026, rs2502501800, rs781006633, rs2502508014, rs2502507826, rs991002466, rs2502501476, rs2502493201, rs2502508389, rs2502484634, rs2040815760, rs201868387, rs1057517836, rs904122716, rs151054393, rs531650682, rs139208806, rs1064794422, rs367699137, rs771820315, rs1555306238, rs760429286, rs398122900, rs397514522, rs398122901, rs878853259, rs397514523, rs397514524, rs397514525, rs398122902, rs398122903, rs398122904, rs398122905, rs1555305836, rs1220151696, rs1555306172, rs778635368, rs140000324, rs752349623, rs1555305725, rs1555305783, rs1555306113, rs1555306116, rs779287673, rs1437822062, rs1555306117, rs1322979131, rs199678720, rs1211601030, rs1465243895, rs147916609, rs1156392436, rs773303931, rs147516124, rs1044429462, rs765914927, rs1555306089, rs1555306102, rs1296165092, rs1199770893, rs972054392, rs201432046, rs1566380103, rs1566377068, rs1202280089, rs1381998109, rs543521135, rs1247223599, rs773777400, rs1230140208, rs1566381457, rs1566378425, rs1594571148, rs1594568541, rs2040682065	RCV003474099 RCV003473879 RCV001358684 RCV004570968 RCV003473981 RCV004571058 RCV002468270 RCV001807922 RCV001823656 RCV003475170 RCV004571685 RCV004555629 RCV003475217 RCV002267141 RCV005614737 RCV003475257 RCV003475249 RCV003475188 RCV002272734 RCV002309609 RCV002309629 RCV002309795 RCV002309959 RCV002309964 RCV002309980 RCV002308124 RCV002308231 RCV002308287 RCV002309102 RCV002309130 RCV002309324 RCV002309330 RCV002306912 RCV002306915 RCV002306934 RCV002307161 RCV002307182 RCV002310461 RCV002472390 RCV003475441 RCV005928670 RCV005002895 RCV000201247 RCV003475473 RCV004572664 RCV003132888 RCV003131730 RCV000235007 RCV000666325 RCV000666492 RCV000762929 RCV000670709 RCV000667655 RCV000673549 RCV005608954 RCV000013296 RCV000013299 RCV000013300 RCV000013301 RCV000013303 RCV000013304 RCV000013307 RCV000013309 RCV000013310 RCV000013311 RCV000013312 RCV000013313 RCV000013315 RCV000013316 RCV000013317 RCV000013318 RCV000013321 RCV000013322 RCV000013323 RCV003474085 RCV003474086 RCV003474087 RCV003474088 RCV003474089 RCV003474090 RCV003474091 RCV003474092 RCV003474093 RCV003474094 RCV003474095 RCV003474096 RCV003474097 RCV003474098 RCV003474100 RCV003474101 RCV003474102 RCV003474103 RCV003474104 RCV003474105 RCV003474106 RCV003474107 RCV003474108 RCV005610644 RCV000320209 RCV004573728 RCV004573729 RCV004573730 RCV004573731 RCV004573732 RCV004573733 RCV004573734 RCV004573735 RCV000762928 RCV000673755 RCV000782370 RCV000762927 RCV000673993 RCV000666751 RCV001275151 RCV005004183 RCV000669357 RCV000671220 RCV003989550 RCV000665611 RCV000032720 RCV000032721 RCV000032723 RCV000032724 RCV000032725 RCV000032726 RCV000032727 RCV000032728 RCV000032729 RCV000032731 RCV000032732 RCV000032733 RCV000032734 RCV000032735 RCV000668723 RCV000667533 RCV000673305 RCV000672768 RCV000670476 RCV000668977 RCV000674415 RCV000669190 RCV000670943 RCV000666094 RCV000669449 RCV000669383 RCV000671525 RCV000674952 RCV000667838 RCV000672184 RCV000667060 RCV000671901 RCV000671020 RCV000666280 RCV000669824 RCV000674494 RCV000674083 RCV000664924 RCV000667946 RCV000668169 RCV000669547 RCV000672174 RCV000669306 RCV000671830 RCV000672592 RCV003472284 RCV000782377 RCV000782375 RCV000782374 RCV000782372 RCV000782379 RCV000782371 RCV000782403 RCV000782402 RCV000782378 RCV000782376 RCV000856581 RCV005004479 RCV001275140 RCV003473783	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cholangiocarcinoma	Pathogenic	rs142634031	RCV005895473	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colon adenocarcinoma	Pathogenic	rs112419023	RCV005897418	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital ichthyosiform erythroderma	Likely pathogenic; Pathogenic	rs2139024935, rs121918732	RCV001526609 RCV001526608	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial cancer of breast	Pathogenic	rs142634031	RCV005895471	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ichthyosis	Likely pathogenic	rs863223405	RCV000755137	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lamellar ichthyosis	Likely pathogenic; Pathogenic	rs746008257, rs587779765, rs764040146, rs2502496203, rs142634031, rs886041250, rs200491579, rs121918716, rs121918717, rs121918718, rs121918720, rs121918722, rs121918723, rs121918724, rs121918725, rs121918731, rs121918732, rs781006633, rs367699137, rs771820315, rs760429286, rs397514525, rs143473912, rs779287673, rs1322979131, rs1465243895, rs1296165092, rs543521135, rs1230140208	RCV005438090 RCV000114933 RCV003324012 RCV002308533 RCV004767207 RCV002222463 RCV003226271 RCV001778651 RCV002281702 RCV003398494 RCV003317033 RCV001582478 RCV004586000 RCV003226158 RCV004689415 RCV002281703 RCV003230360 RCV003323509 RCV000599792 RCV003230514 RCV002271520 RCV001192957 RCV003317052 RCV004700296 RCV004800524 RCV001844218 RCV004702296 RCV003387906 RCV004576967 RCV005407956	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lung cancer	Pathogenic	rs142634031	RCV005895474	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian serous cystadenocarcinoma	Likely pathogenic	rs776068111	RCV005927724	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TGM1-related disorder	Pathogenic; Likely pathogenic	rs142634031, rs121918722, rs121918727, rs2502508287, rs760429286, rs143473912, rs121918721	RCV003930035 RCV003894800 RCV003952354 RCV004731538 RCV003900087 RCV003904883 RCV004757112	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thyroid cancer, nonmedullary, 1	Pathogenic	rs142634031	RCV005895472	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Treacher Collins syndrome 1	Likely pathogenic; Pathogenic	rs781006633	RCV005863096	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ACRAL SELF-HEALING COLLODION BABY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHLORACNE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NON-BULLOUS ICHTHYOSIFORM ERYTHRODERMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NONBULLOUS ICHTHYOSIFORM ERYTHRODERMA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DRY EYE SYNDROMES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSKERATOSIS CONGENITA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ICHTHYOSES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE FIBROID	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitamin A deficiency	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acral self-healing collodion baby	Acral Self-Healing Collodion Baby	BEFREE	19500103		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acral self-healing collodion baby	Acral Self-Healing Collodion Baby	ORPHANET_DG	19500103		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acral self-healing collodion baby	Acral Self-Healing Collodion Baby	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	8634442		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	27255538		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	BEFREE	18948357		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	10521460, 11013236	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	34911754	Associate	★☆☆☆☆ Found in Text Mining only
Bathing suit ichthyosis	Ichthyosis	BEFREE	16968736, 20522418, 22801880, 25209454, 28403434		★☆☆☆☆ Found in Text Mining only
Bathing suit ichthyosis	Ichthyosis	ORPHANET_DG	16968736		★☆☆☆☆ Found in Text Mining only
Bathing suit ichthyosis	Ichthyosis	Orphanet			★☆☆☆☆ Found in Text Mining only
Beckwith-Wiedemann Syndrome	Beckwith-Wiedemann Syndrome	BEFREE	19843502, 21920939, 22150955, 23116464, 23511928, 23917791, 24704790, 26505556, 27255538, 27372391, 30158284, 30352048		★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders Inherited	Blood coagulation disorder	Pubtator	39501396	Associate	★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	Pubtator	34983512	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	19403524	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	12654631		★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	BEFREE	30619787		★☆☆☆☆ Found in Text Mining only
Cholesteatoma	Cholesteatoma	Pubtator	10642946	Associate	★☆☆☆☆ Found in Text Mining only
Chronic otitis media	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic Periodontitis	Periodontitis	BEFREE	24112124		★☆☆☆☆ Found in Text Mining only
Collodion Fetus	Congenital Ichthyosis	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	BEFREE	24335096		★☆☆☆☆ Found in Text Mining only
Congenital ichthyosis	Congenital Ichthyosis	BEFREE	10482949, 10914678, 12636018, 15665393, 18165261, 18948357, 19241467, 22511925, 22801880, 23096117, 24130705, 25154629, 25180191, 25754682, 26220141, 26578203, 28403434, 30372788, 30916809, 31073126, 31168818, 9326318		★☆☆☆☆ Found in Text Mining only
Congenital ichthyosis	Congenital Ichthyosis	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Congenital non-bullous ichthyosiform erythroderma	Congenital Nonbullous Ichthyosiform Erythroderma	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Nonbullous Ichthyosiform Erythroderma	Congenital Nonbullous Ichthyosiform Erythroderma	BEFREE	10232404, 10482949, 10694685, 10886517, 10980462, 11064247, 11348475, 11511296, 12636018, 15665393, 15953088, 16133457, 17024410, 18948357, 19241467, 19278426, 19486042, 20064174, 20385541, 20522418, 21668430, 22435431, 22511925, 22801880, 23096117, 23192619, 23689228, 24130705, 25154629, 25180191, 25754682, 25808943, 26220141, 26578203, 28403434, 28638141, 30302839, 30372788, 30916809, 31073126, 7581379, 7773290, 7977373, 8621660, 8898758, 8941665, 8953315, 9322868, 9326318, 9359043, 9457916, 9545389, 9593710, 9887377		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Nonbullous Ichthyosiform Erythroderma	Congenital Nonbullous Ichthyosiform Erythroderma	ORPHANET_DG	12780701, 22739337		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Nonbullous Ichthyosiform Erythroderma	Congenital Nonbullous Ichthyosiform Erythroderma	CLINVAR_DG	16968736, 19212342, 19863506, 19890349, 27025581		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Nonbullous Ichthyosiform Erythroderma	Congenital Nonbullous Ichthyosiform Erythroderma	LHGDN	17024410		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Nonbullous Ichthyosiform Erythroderma	Congenital Nonbullous Ichthyosiform Erythroderma	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Nonbullous Ichthyosiform Erythroderma	Congenital Nonbullous Ichthyosiform Erythroderma	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Nonbullous Ichthyosiform Erythroderma	Congenital Nonbullous Ichthyosiform Erythroderma	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital omphalocele	Congenital omphalocele	BEFREE	24335096		★☆☆☆☆ Found in Text Mining only
Corneal erosion	Corneal erosion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Corneal Injuries	Corneal injury	Pubtator	37542530	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic	Atopic dermatitis	Pubtator	23189155	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	23189155		★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	17024410, 7908683		★☆☆☆☆ Found in Text Mining only
Dry Eye Syndromes	Dry Eye Syndromes	CTD_human_DG	16146918		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dry Eye Syndromes	Dry Eye Syndromes	BEFREE	23665202		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dwarfism	Dwarfism	BEFREE	24668696		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dystrophia unguium	Nail dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ectropion	Ectropion	BEFREE	18948357, 27061915		★☆☆☆☆ Found in Text Mining only
Ectropion	Ectropion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	23189155		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	31277149, 32546690	Associate	★☆☆☆☆ Found in Text Mining only
Exfoliative dermatitis	Exfoliative Dermatitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Eye Abnormalities	Eye abnormalities	Pubtator	37542530	Associate	★☆☆☆☆ Found in Text Mining only
Eye Neoplasms	Eye neoplasms	Pubtator	18948357	Associate	★☆☆☆☆ Found in Text Mining only
Gangrene	Gangrene	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gaucher Disease Perinatal Lethal	Gaucher disease	Pubtator	12542526	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis Membranous	Membranous glomerulonephritis	Pubtator	18948357	Associate	★☆☆☆☆ Found in Text Mining only
Harlequin Fetus	Harlequin Ichthyosis	BEFREE	9486708		★☆☆☆☆ Found in Text Mining only
Harlequin Fetus	Harlequin Ichthyosis	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	34851365	Associate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	11738472, 15715085		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	LHGDN	15715085, 16604191		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	18422943	Associate	★☆☆☆☆ Found in Text Mining only
Hyperkeratosis	Hyperkeratosis	BEFREE	7678985		★☆☆☆☆ Found in Text Mining only
Hyperkeratosis	Hyperkeratosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperkeratosis Epidermolytic	Epidermolytic hyperkeratosis	Pubtator	15665393	Associate	★☆☆☆☆ Found in Text Mining only
Hyperkeratosis, Epidermolytic	Hyperkeratosis, Epidermolytic	BEFREE	9887377		★☆☆☆☆ Found in Text Mining only
Hypohidrosis	Hypohidrosis	BEFREE	18948357		★☆☆☆☆ Found in Text Mining only
Hypohidrosis	Hypohidrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypotrichosis	Hypotrichosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	BEFREE	10231017, 10482949, 10914678, 18165261, 18948357, 22801880, 27442430, 28403434, 30600594, 31073126, 31168818, 8941665		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ichthyoses	Ichthyosis	LHGDN	15665393, 16133457, 18948357		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ichthyoses	Ichthyosis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ichthyoses	Ichthyosis	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ichthyosiform Erythroderma Congenital	Congenital ichthyosiform erythroderma	Pubtator	9424079	Associate	★☆☆☆☆ Found in Text Mining only
Ichthyosiform Erythroderma, Congenital	Ichthyosis Congenita	BEFREE	10482949, 12636018, 12823447, 15665393, 16133457, 18948357, 19241467, 22511925, 22801880, 23096117, 24130705, 25154629, 25180191, 25754682, 26220141, 26578203, 28403434, 30372788, 30916809, 9326318, 9887377		★☆☆☆☆ Found in Text Mining only
Ichthyosiform Erythroderma, Congenital	Ichthyosis Congenita	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ichthyosis	Ichthyosis	Pubtator	27025581, 28403434, 31073126, 33807935, 34851365, 8941665	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ichthyosis Bullosa of Siemens	Junctional epidermolysis bullosa	Pubtator	12636018	Associate	★☆☆☆☆ Found in Text Mining only
Ichthyosis Congenita I	Ichthyosis Congenita	CLINVAR_DG	10232404, 10886517, 10914678, 11251583, 11298529, 11407995, 11511296, 12535215, 12542526, 14996130, 16133457, 16908342, 16968736, 16977323, 17635512, 18948357, 19156839, 19212342, 19241467, 19262603, 19500103, 19863506, 20137757, 20167857, 20522418, 20663883, 21668430, 21895619, 22258055, 22311480, 22437313, 22511925, 22801880, 22992804, 23096117, 23192619, 23278109, 23621129, 23689228, 23895935, 24314425, 24419105, 25154629, 25525159, 25766764, 25998749, 26076875, 26220141, 26594337, 26620441, 26762237, 27025581, 27442430, 28403434, 7581379, 7773290, 7824952, 9261103, 9326318, 9457916, 9545389, 9593710		★☆☆☆☆ Found in Text Mining only
Ichthyosis Congenita I	Ichthyosis Congenita	UNIPROT_DG	11251583, 11511296, 19890349, 26220141, 7773290, 7824952, 9326318		★☆☆☆☆ Found in Text Mining only
Ichthyosis Congenita I	Ichthyosis Congenita	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Ichthyosis Congenita I	Ichthyosis Congenita	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Ichthyosis Congenita II	Ichthyosis Congenita	BEFREE	20082469		★☆☆☆☆ Found in Text Mining only
Ichthyosis Congenita II	Ichthyosis Congenita	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Ichthyosis Lamellar	Lamellar ichthyosis	Pubtator	10644724, 10712205, 11348475, 11511296, 15665393, 19197536, 20167857, 23096117, 23192619, 23689228, 30600594, 31073126, 36676727, 37542530, 7977373, 8941665, 9261103, 9424079, 9457916, 9593710	Associate	★☆☆☆☆ Found in Text Mining only
Ichthyosis linearis circumflexa	Netherton syndrome	BEFREE	30801672		★☆☆☆☆ Found in Text Mining only
Ichthyosis Vulgaris	Ichthyosis Vulgaris	BEFREE	24130705		★☆☆☆☆ Found in Text Mining only
Ichthyosis, X-Linked	Ichthyosis	BEFREE	24130705		★☆☆☆☆ Found in Text Mining only
Idiopathic Inflammatory Myopathies	Inflammatory Myopathy	BEFREE	14631123		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	12665627, 8898758		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Keratitis	Keratitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	Pubtator	36240204	Associate	★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar, Epidermolytic	Epidermolytic palmoplantar keratoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lamellar ichthyosis	Lamellar ichthyosis	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lamellar ichthyosis type 3	Lamellar ichthyosis	Pubtator	10712223, 11398099, 15665393, 18948357, 22386491, 22511925, 22622417, 25180191, 26578203, 30372788, 30600594, 30916809, 30978464, 34983512, 36980989, 9424079	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	12654631		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	12654631		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	8645175		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	27660242		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28372998		★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	Pubtator	11511296	Associate	★☆☆☆☆ Found in Text Mining only
Myositis Inclusion Body	Myositis	Pubtator	10722712	Stimulate	★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyp	Pubtator	36361742	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	27372391, 28270135, 28372998, 7908683		★☆☆☆☆ Found in Text Mining only
Pachyonychia Congenita	Pachyonychia congenita	Pubtator	36116508	Associate	★☆☆☆☆ Found in Text Mining only
Palmoplantar Keratosis	Palmoplantar Keratosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Parakeratosis	Parakeratosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pemphigus	Pemphigus	Pubtator	34911754	Associate	★☆☆☆☆ Found in Text Mining only
Placental Steroid Sulfatase Deficiency	Placental Steroid Sulfatase Deficiency	BEFREE	24130705		★☆☆☆☆ Found in Text Mining only
Progressive supranuclear palsy	Progressive Supranuclear Palsy	BEFREE	12578227		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	8645175		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	1351505, 7678985, 7908683		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Russell-Silver syndrome	Russell-Silver Syndrome	BEFREE	16963484, 18341093, 19755383, 20082469, 21910219, 23116464, 23511928		★☆☆☆☆ Found in Text Mining only
Self-Healing Collodion Baby	Self-Healing Collodion Baby	ORPHANET_DG	12542526, 19890349		★☆☆☆☆ Found in Text Mining only
Self-Healing Collodion Baby	Self-Healing Collodion Baby	BEFREE	26646773		★☆☆☆☆ Found in Text Mining only
Self-improving collodion baby	Self-Healing Collodion Baby	Orphanet			★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	12542526	Associate	★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	12654631		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	7908683		★☆☆☆☆ Found in Text Mining only
Steroid Sulfatase Deficiency Disease	Steroid Sulfatase Deficiency Disease	BEFREE	24130705		★☆☆☆☆ Found in Text Mining only
Stevens-Johnson Syndrome	Stevens-Johnson Syndrome	BEFREE	10027391		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	27660242		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	27660242	Associate	★☆☆☆☆ Found in Text Mining only
Uncombable hair syndrome	Uncombable Hair Syndrome	BEFREE	28940785		★☆☆☆☆ Found in Text Mining only
Vitamin A Deficiency	Vitamin A Deficiency	CTD_human_DG	16146918		★★☆☆☆ Found in Text Mining + Unknown/Other Associations