UROD (uroporphyrinogen decarboxylase)

Gene

• Entrez ID: 7389
• Gene name: Uroporphyrinogen decarboxylase
• Gene symbol: UROD
• Synonyms (NCBI Gene): PCT, UPD
• Chromosome: 1
• Chromosome location: 1p34.1
• Summary: This gene encodes an enzyme in the heme biosynthetic pathway. This enzyme is responsible for catalyzing the conversion of uroporphyrinogen to coproporphyrinogen through the removal of four carboxymethyl side chains. Mutations and deficiency in this enzyme

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121918057	G>A,T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121918058	G>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121918059	C>G,T	Pathogenic, uncertain-significance	Non coding transcript variant, missense variant, coding sequence variant
rs121918061	A>G,T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121918062	G>A	Pathogenic	Non coding transcript variant, synonymous variant, coding sequence variant
rs121918063	T>G	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121918064	C>G,T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121918065	C>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121918066	G>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs143823335	G>A,C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs145195562	G>C	Pathogenic	Splice donor variant
rs397514765	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1569967143	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT047424	hsa-miR-10b-5p	CLASH	23622248
MIRT046708	hsa-miR-222-3p	CLASH	23622248
MIRT040550	hsa-miR-92b-3p	CLASH	23622248
MIRT1477085	hsa-miR-2355-3p	CLIP-seq
MIRT1477086	hsa-miR-3152-3p	CLIP-seq
MIRT1477087	hsa-miR-3690	CLIP-seq
MIRT1477088	hsa-miR-4254	CLIP-seq
MIRT1477089	hsa-miR-4261	CLIP-seq
MIRT1477090	hsa-miR-4460	CLIP-seq
MIRT1477091	hsa-miR-4705	CLIP-seq
MIRT1477092	hsa-miR-4719	CLIP-seq
MIRT1477093	hsa-miR-4727-3p	CLIP-seq
MIRT1477094	hsa-miR-513b	CLIP-seq
MIRT1477095	hsa-miR-676	CLIP-seq
MIRT1477096	hsa-miR-875-3p	CLIP-seq
MIRT2364000	hsa-miR-140-5p	CLIP-seq
MIRT1477085	hsa-miR-2355-3p	CLIP-seq
MIRT1477086	hsa-miR-3152-3p	CLIP-seq
MIRT2364001	hsa-miR-3545-5p	CLIP-seq
MIRT1477087	hsa-miR-3690	CLIP-seq
MIRT1477088	hsa-miR-4254	CLIP-seq
MIRT1477089	hsa-miR-4261	CLIP-seq
MIRT1477090	hsa-miR-4460	CLIP-seq
MIRT1477091	hsa-miR-4705	CLIP-seq
MIRT1477093	hsa-miR-4727-3p	CLIP-seq
MIRT1477095	hsa-miR-676	CLIP-seq
MIRT1477096	hsa-miR-875-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004853	Function	Uroporphyrinogen decarboxylase activity	IBA
GO:0004853	Function	Uroporphyrinogen decarboxylase activity	IDA	11069625, 11719352, 12071824, 14633982, 18004775, 21668429
GO:0004853	Function	Uroporphyrinogen decarboxylase activity	IEA
GO:0004853	Function	Uroporphyrinogen decarboxylase activity	TAS	1634232
GO:0005515	Function	Protein binding	IPI	25416956, 28514442, 31515488, 32296183, 33961781
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	ISS
GO:0005829	Component	Cytosol	TAS
GO:0006778	Process	Porphyrin-containing compound metabolic process	IDA	12071824
GO:0006778	Process	Porphyrin-containing compound metabolic process	IEA
GO:0006779	Process	Porphyrin-containing compound biosynthetic process	IEA
GO:0006782	Process	Protoporphyrinogen IX biosynthetic process	IDA	11069625
GO:0006782	Process	Protoporphyrinogen IX biosynthetic process	IEA
GO:0006783	Process	Heme biosynthetic process	IBA
GO:0006783	Process	Heme biosynthetic process	IC	18004775
GO:0006783	Process	Heme biosynthetic process	IEA
GO:0006783	Process	Heme biosynthetic process	IEA
GO:0006784	Process	Heme A biosynthetic process	IEA
GO:0006785	Process	Heme B biosynthetic process	IDA	11069625
GO:0006785	Process	Heme B biosynthetic process	IEA
GO:0006787	Process	Porphyrin-containing compound catabolic process	IDA	11069625, 11719352, 14633982, 21668429
GO:0016829	Function	Lyase activity	IEA
GO:0016831	Function	Carboxy-lyase activity	IEA
GO:0042168	Process	Heme metabolic process	IEA
GO:0048034	Process	Heme O biosynthetic process	IEA

Other IDs

• MIM: 613521
• HGNC: 12591
• e!Ensembl: ENSG00000126088

Protein

• UniProt ID: P06132
• Protein name: Uroporphyrinogen decarboxylase (UPD) (URO-D) (EC 4.1.1.37)
• Protein function: Catalyzes the sequential decarboxylation of the four acetate side chains of uroporphyrinogen to form coproporphyrinogen and participates in the fifth step in the heme biosynthetic pathway (PubMed:11069625, PubMed:11719352, PubMed:14633982, PubMe
• PDB: 1JPH, 1JPI, 1JPK, 1R3Q, 1R3R, 1R3S, 1R3T, 1R3V, 1R3W, 1R3Y, 1URO, 2Q6Z, 2Q71, 3GVQ, 3GVR, 3GVV, 3GVW, 3GW0, 3GW3
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01208	URO-D	14 → 360	Uroporphyrinogen decarboxylase (URO-D)	Domain

• Sequence:

  MEANGLGPQGFPELKNDTFLRAAWGEETDYTPVWCMRQAGRYLPEFRETRAAQDFFSTCR
  SPEACCELTLQPLRRFPLDAAIIFSDILVVPQALGMEVTMVPGKGPSFPEPLREEQDLER
  LRDPEVVASELGYVFQAITLTRQRLAGRVPLIGFAGAPWTLMTYMVEGGGSSTMAQAKRW
  LYQRPQASHQLLRILTDALVPYLVGQVVAGAQALQLFESHAGHLGPQLFNKFALPYIRDV
  AKQVKARLREAGLAPVPMIIFAKDGHFALEELAQAGYEVVGLDWTVAPKKARECVGKTVT
  LQGNLDPCALYASEEEIGQLVKQMLDDFGPHRYIANLGHGLYPDMDPEHVGAFVDAVHKH
  SRLLRQN

• Sequence length: 367

Pathways

KEGG:

Porphyrin metabolism
Metabolic pathways
Biosynthesis of cofactors

Reactome:

Heme biosynthesis

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
Familial porphyria cutanea tarda	Likely pathogenic; Pathogenic	rs2148982945, rs769378741, rs780227281, rs771824413, rs121918057, rs145195562, rs121918062, rs121918063, rs121918064, rs121918065, rs143823335, rs2522913357, rs2522921855, rs2522922098, rs397514765, rs1569967143, rs1644814606	RCV001723521 RCV001784012 RCV005208173 RCV002246621 RCV000000082 RCV000240661 RCV000000085 RCV000000090 RCV000000091 RCV000000092 RCV000000093 RCV000240668 RCV003319946 RCV003447786 RCV003486343 RCV005250006 RCV000986298 RCV001169902	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hepatoerythropoietic porphyria	Pathogenic	rs121918057, rs121918059, rs121918060	RCV000000083 RCV000000087 RCV000000088	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Porphyria cutanea tarda	Pathogenic	rs121918057, rs397514764, rs397514765	RCV000024023 RCV000054829 RCV000054830	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Pathogenic	rs145195562, rs567894083	RCV005887116 RCV005927741	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
UROD-related disorder	Likely pathogenic; Pathogenic	rs769378741, rs771824413, rs121918062, rs143823335, rs2522927425, rs2522923201, rs1013135823	RCV004552021 RCV004738472 RCV004547442 RCV002509339 RCV004552420 RCV004736645 RCV003988554	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
UROD-related inherited porphyria	Likely pathogenic; Pathogenic	rs771824413	RCV006249792	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
HEAD AND NECK NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PORPHYRIA CUTANEA TARDA, TYPE I	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sporadic porphyria cutanea tarda	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acne	Acne	BEFREE	31728743		★☆☆☆☆ Found in Text Mining only
Acne Vulgaris	Acne	BEFREE	31728743		★☆☆☆☆ Found in Text Mining only
Acromicria	Acromicria	BEFREE	20020576		★☆☆☆☆ Found in Text Mining only
Acute intermittent porphyria	Intermittent Porphyria	BEFREE	12699245, 2499457, 2721023		★☆☆☆☆ Found in Text Mining only
Acute pancreatitis	Pancreatitis	BEFREE	29422392		★☆☆☆☆ Found in Text Mining only
Adult Acute Myeloblastic Leukemia	Myeloblastic Leukemia	BEFREE	28768907		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anemia, Hemolytic	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Angelman Syndrome	Angelman Syndrome	BEFREE	1360787, 15607424		★☆☆☆☆ Found in Text Mining only
Aplastic Anemia	Aplastic anemia	BEFREE	21527527		★☆☆☆☆ Found in Text Mining only
Appendicitis	Appendicitis	BEFREE	30918467		★☆☆☆☆ Found in Text Mining only
Appendicitis	Appendicitis	Pubtator	30918467	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	18314872		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	21752678		★☆☆☆☆ Found in Text Mining only
Beckwith-Wiedemann Syndrome	Beckwith-Wiedemann Syndrome	BEFREE	10424811, 16882733, 18314872, 21248736		★☆☆☆☆ Found in Text Mining only
Blepharophimosis	Blepharophimosis	BEFREE	18262484, 26789739		★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	31326577		★☆☆☆☆ Found in Text Mining only
CAMPTODACTYLY-ARTHROPATHY-COXA VARA-PERICARDITIS SYNDROME	Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome	BEFREE	23756439		★☆☆☆☆ Found in Text Mining only
Cancer of Head	Neoplasm of head	CTD_human_DG	21270338		★☆☆☆☆ Found in Text Mining only
Cancer of Neck	Neck Cancer	CTD_human_DG	21270338		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	37166013	Associate	★☆☆☆☆ Found in Text Mining only
Central Diabetes Insipidus	Diabetes Insipidus	BEFREE	30235108		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	30327930		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	29644058		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	28388301		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	30350313		★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	24664587		★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	BEFREE	10820412		★☆☆☆☆ Found in Text Mining only
Congenital heart disease	Congenital Heart Disease	BEFREE	10925385		★☆☆☆☆ Found in Text Mining only
Crigler Najjar syndrome, type 1	Crigler-Najjar syndrome	BEFREE	26676689		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	16835920		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	25088280		★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	30944007, 622106, 9516680		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	24356988		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	20957336	Associate	★☆☆☆☆ Found in Text Mining only
Disorders of Porphyrin Metabolism	Porphyria	BEFREE	10189391, 10477430, 10980536, 11134514, 11202053, 12699245, 16390615, 18462440, 21668429, 2499457, 2721023, 30683557, 31326287, 3775362, 7902313, 8661721, 8896428		★☆☆☆☆ Found in Text Mining only
Disorders of Porphyrin Metabolism	Porphyria	LHGDN	16390615		★☆☆☆☆ Found in Text Mining only
Embryonal Rhabdomyosarcoma	Embryonal Rhabdomyosarcoma	BEFREE	27589201		★☆☆☆☆ Found in Text Mining only
Endocarditis	Endocarditis	BEFREE	28387901		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	30327930		★☆☆☆☆ Found in Text Mining only
Erythropoietic Protoporphyria	Erythropoietic Protoporphyria	BEFREE	12699245		★☆☆☆☆ Found in Text Mining only
Familial porphyria cutanea tarda	Porphyria Cutanea Tarda	BEFREE	10338097, 10477430, 10980536, 11295834, 11719352, 11929044, 12071824, 1634232, 17627795, 22382040, 2243121, 2786774, 2906904, 2920211, 30683557, 3225822, 3369447, 3979748, 6112327, 6134095, 6375356, 7074894, 7428280, 7706766, 7923766, 8176248, 8644733, 8896428, 9211196, 9427577, 9516680, 9792863		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial porphyria cutanea tarda	Porphyria Cutanea Tarda	CLINVAR_DG	19233912, 23545314		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial porphyria cutanea tarda	Porphyria Cutanea Tarda	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	25027394		★☆☆☆☆ Found in Text Mining only
Gilbert Disease (disorder)	Gilbert Disease	BEFREE	8596320		★☆☆☆☆ Found in Text Mining only
Glaucoma, Primary Open Angle	Glaucoma	BEFREE	29625448		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	16835920, 9032642		★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	21270338		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head And Neck Neoplasms	CTD_human_DG	21270338		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Head Neoplasms	Head Neoplasms	CTD_human_DG	21270338		★☆☆☆☆ Found in Text Mining only
Hemochromatosis	Hemochromatosis	Pubtator	12735639	Associate	★☆☆☆☆ Found in Text Mining only
Hemochromatosis	Hemochromatosis	BEFREE	9792863		★☆☆☆☆ Found in Text Mining only
HEMOCHROMATOSIS, TYPE 1	Hemochromatosis	BEFREE	9792863		★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	BEFREE	18271875		★☆☆☆☆ Found in Text Mining only
Hepatoerythropoietic Porphyria	Hepatoerythropoietic Porphyria	BEFREE	10397714, 10477430, 10980536, 11017081, 12071824, 15491440, 1634232, 17240319, 1905636, 19268003, 20479301, 21668429, 2322500, 26789143, 2786774, 30514647, 3571497, 3821794, 6112327, 6375356, 6512055, 7706766, 7971555, 8176248, 8644733, 8896428, 9427577, 9806541		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hepatoerythropoietic Porphyria	Hepatoerythropoietic Porphyria	ORPHANET_DG	17240319, 21668429		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hepatoerythropoietic porphyria	Hepatoerythropoietic Porphyria	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hepatoerythropoietic Porphyria	Hepatoerythropoietic Porphyria	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary hemochromatosis	Hereditary Hemochromatosis	BEFREE	15740492, 9425935		★☆☆☆☆ Found in Text Mining only
Hypertrichosis	Hypertrichosis	Pubtator	26789143	Associate	★☆☆☆☆ Found in Text Mining only
Hypodysfibrinogenemia	Hypodysfibrinogenemia	BEFREE	22955321		★☆☆☆☆ Found in Text Mining only
Hypopigmentation disorder	Hypopigmentation Disorder	BEFREE	20020576		★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	BEFREE	27300571		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	18262484, 23552953, 28602932		★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron Overload	BEFREE	11134514, 15845371, 17298224, 30683557, 9425935		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	29644058		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	15845371		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	21270338		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	CTD_human_DG	21270338		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	21270338, 31284812		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	18262484		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	11929044		★☆☆☆☆ Found in Text Mining only
Miller-McKusick-Malvaux-Syndrome (3M Syndrome)	3M Syndrome	BEFREE	21166787		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	21527527		★☆☆☆☆ Found in Text Mining only
Neck Neoplasms	Neck Neoplasms	CTD_human_DG	21270338		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	21270338, 27589201, 9167963		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	29464178		★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	25088280		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	17236194, 28602932		★☆☆☆☆ Found in Text Mining only
Onycholysis	Onycholysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	BEFREE	29978492		★☆☆☆☆ Found in Text Mining only
Penile hypospadias	Penile Hypospadias	BEFREE	27300571		★☆☆☆☆ Found in Text Mining only
Porphyria Cutanea Tarda	Porphyria Cutanea Tarda	BEFREE	10189391, 10787385, 11069625, 11134514, 11202053, 11260010, 11499833, 11929044, 11929045, 12699242, 12699245, 12735639, 1358034, 1359994, 15186324, 1610684, 16990695, 17295179, 17298224, 17627795, 19001803, 19233912, 19419417, 19656450, 20099833, 20163457, 20955974, 20957336, 21929532, 22382040, 2243121, 23545314, 2499457, 26317124, 2768832, 2786774, 2862415, 2906904, 2920211, 29644058, 29856826, 30514647, 30683557, 30737139, 30944007, 31097365, 31269308, 31326287, 3180434, 3225822, 3369447, 3977935, 6134095, 622106, 6239148, 6375356, 7074894, 7428280, 7902313, 8661721, 8804842, 9425935, 9427577, 9516680, 993332		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Porphyria Cutanea Tarda	Porphyria Cutanea Tarda	UNIPROT_DG	10338097, 10477430, 11069625, 11295834, 11719352, 12071824, 15491440, 1634232, 17240319, 1905636, 21668429, 2243121, 2920211, 3775362, 7706766, 8176248, 8644733, 8896428, 9792863		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Porphyria Cutanea Tarda	Porphyria cutanea tarda	Pubtator	11069625, 11719352, 12735639, 19419417, 19656450, 20163457, 20957336, 21668429, 2243121, 24068123, 26317124, 2920211, 32045169, 37360939, 6375356, 7706766, 8176248, 8896428, 9792863	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Porphyria Cutanea Tarda	Porphyria Cutanea Tarda	CTD_human_DG	12030801, 17360334		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Porphyria Cutanea Tarda	Porphyria Cutanea Tarda	LHGDN	15046048, 15186324, 17627795		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Porphyria Cutanea Tarda	Porphyria cutanea tarda	Pubtator	1634232, 30514647, 8644733	Inhibit	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Porphyria Cutanea Tarda	Porphyria Cutanea Tarda	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Porphyria Cutanea Tarda, Type I	Porphyria Cutanea Tarda	BEFREE	2786774		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Porphyria Cutanea Tarda, Type I	Porphyria Cutanea Tarda	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Porphyria Hepatoerythropoietic	Hepatoerythropoietic porphyria	Pubtator	1634232, 20479301, 21668429, 26789143, 30514647, 6375356, 7706766, 8176248, 8644733, 8896428	Associate	★☆☆☆☆ Found in Text Mining only
Porphyria Hepatoerythropoietic	Hepatoerythropoietic porphyria	Pubtator	8644733	Inhibit	★☆☆☆☆ Found in Text Mining only
Porphyrias	Porphyria	Pubtator	8896428	Associate	★☆☆☆☆ Found in Text Mining only
Prader-Willi Syndrome	Prader-Willi Syndrome	BEFREE	10528860, 11425004, 12920063, 1360787, 15103712, 15979635, 17236194, 17262171, 18324689, 18726118, 23750756, 24515997, 25088280, 26526156, 29776967		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	25088280		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	25088280		★☆☆☆☆ Found in Text Mining only
Psychotic episodes	Psychosis	BEFREE	18324689		★☆☆☆☆ Found in Text Mining only
Russell-Silver syndrome	Russell-Silver Syndrome	BEFREE	10227403, 11112662, 11718568, 20573229, 21752678, 25015868, 25351781, 28624953, 29146936, 29878129, 30242100, 7633407		★☆☆☆☆ Found in Text Mining only
Scleroderma	Scleroderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	23799041, 26339334, 26476896, 28079172, 28387901, 28962140, 29968788, 30024613, 30132205, 30142533, 30547887, 31003186, 31284812, 31574301		★☆☆☆☆ Found in Text Mining only
Severe combined immunodeficiency due to adenosine deaminase deficiency	Severe combined immunodeficiency disease	BEFREE	23280131		★☆☆☆☆ Found in Text Mining only
Sex Differentiation Disorders	Sex Differentiation Disorders	BEFREE	26043854		★☆☆☆☆ Found in Text Mining only
Somatotropin deficiency	Somatotropin Deficiency	BEFREE	29217318		★☆☆☆☆ Found in Text Mining only
Sporadic porphyria cutanea tarda	Porphyria Cutanea Tarda	BEFREE	11929045, 2862415, 8099886, 8644733, 9425935		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Status Epilepticus	Status Epilepticus	BEFREE	30327930		★☆☆☆☆ Found in Text Mining only
Sulfocysteinuria	Sulfocysteinuria	BEFREE	23994568		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thyroid Nodule	Thyroid Nodule	BEFREE	30518486		★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	29146936		★☆☆☆☆ Found in Text Mining only
Uniparental disomy, paternal, chromosome 14	Paternal uniparental disomy of chromosome 14	BEFREE	25689926		★☆☆☆☆ Found in Text Mining only
Upper Aerodigestive Tract Neoplasms	Upper Aerodigestive Tract Neoplasms	CTD_human_DG	21270338		★☆☆☆☆ Found in Text Mining only
Variegate Porphyria	Variegate Porphyria	BEFREE	12699245		★☆☆☆☆ Found in Text Mining only