GenTIGS

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Monogenic disorders list based on single and multiple genes

Disorder Name (Total=75)	Aliases	Category	Gene	Indian Reports	Link
Myeloproliferative disorder	• Myeloproliferative neoplasm • MPD • MPN	Blood disorders	FGFR3 fibroblast growth factor receptor 3 DNMT3A DNA methyltransferase 3 alpha PDGFRB platelet derived growth factor receptor beta	Reports Updated as of Feb 20, 2024	PubMed
Myelodysplastic syndrome	• Myelodysplastic syndrome, somatic • Myelodysplastic syndromes	Blood disorders	MT-TL1 mitochondrially encoded tRNA leucine 1 (UUA/G) MT-CO1 mitochondrially encoded cytochrome c oxidase I GATA2 GATA binding protein 2 NRAS NRAS proto-oncogene, GTPase SF3B1 splicing factor 3b subunit 1 FLT3 fms related receptor tyrosine kinase 3 DNMT3A DNA methyltransferase 3 alpha IDH1 isocitrate dehydrogenase (NADP(+)) 1 IDH2 isocitrate dehydrogenase (NADP(+)) 2 TET2 tet methylcytosine dioxygenase 2 DDX41 DEAD-box helicase 41 ASXL1 ASXL transcriptional regulator 1 SAMD9 sterile alpha motif domain containing 9	Reports Updated as of Feb 20, 2024	PubMed
T-cell large granular lymphocyte leukemia	• Proliferation of large granular lymphocytes • T-LGL • T-cell LGL leukemia	Blood disorders	STAT3 signal transducer and activator of transcription 3	Reports Updated as of Feb 20, 2024	PubMed
Paroxysmal nocturnal hemoglobinuria	• Marchiafava-Micheli disease • Acquired paroxysmal nocturnal hemoglobinuria	Blood disorders	PIGA phosphatidylinositol glycan anchor biosynthesis class A LOC110806306 telomerase RNA component (TERC) promoter	Reports Updated as of Feb 20, 2024	PubMed
Acute promyelocytic leukemia	• [PML/RARalpha] and variants • Acute myeloblastic leukemia 3 • Acute myeloid leukemia with t(15,17)(q22,q12) • APML • AML M3	Blood disorders	RARA retinoic acid receptor alpha NUMA1 nuclear mitotic apparatus protein 1	Reports Updated as of Jan 04, 2024	PubMed
Systemic-Onset Juvenile Idiopathic Arthritis	• Still Disease • Systemic-Onset Jia • Systemic onset juvenile idiopathic arthritis	Bone disorders	S100A9 S100 calcium binding protein A9 IL6 interleukin 6 HLA-DRB1 major histocompatibility complex, class II, DR beta 1 LACC1 laccase domain containing 1	Reports Updated as of Sep 05, 2023	PubMed
Reactive arthritis	• Arthritis urethritica • Fiessinger-Leroy disease • Polyarthritis enterica • Venereal arthritis	Bone disorders	HLA-B major histocompatibility complex, class I, B	Reports Updated as of Jan 04, 2024	PubMed
Enthesitis-Related Juvenile Idiopathic Arthritis	• Enthesitis related arthritis • Enthesitis-related JIA • Juvenile ERA	Bone disorders	IL36G interleukin 36 gamma MIF macrophage migration inhibitory factor	Reports Updated as of Mar 09, 2023	PubMed
Maffucci syndrome	• Enchondromatosis with multiple cavernous hemangiomas • Hemangiomatosis chondrodystrophica • Kast syndrome • Multiple enchondromatosis	Bone disorders	COL2A1 collagen type II alpha 1 chain HIF1A hypoxia inducible factor 1 subunit alpha	Reports Updated as of Feb 01, 2024	PubMed
Jeune thoracic dystrophy	• Asphyxiating thoracic dystrophy • Chondroectodermal dysplasia-like syndrome • Infantile thoracic dystrophy • Jeune syndrome • Jeune's syndrome • Short-rib thoracic dysplasia • Thoracic pelvic phalangeal dystrophy	Bone disorders	DYNC2H1 dynein cytoplasmic 2 heavy chain 1 IFT80 intraflagellar transport 80 TTC21B tetratricopeptide repeat domain 21B WDR19 WD repeat domain 19 LBR lamin B receptor KIAA0753 KIAA0753 WDR35 WD repeat domain 35 TRAF3IP1 TRAF3 interacting protein 1 INTU inturned planar cell polarity protein NEK1 NIMA related kinase 1 EVC2 EvC ciliary complex subunit 2 DYNC2I1 dynein 2 intermediate chain 1 DYNC2I2 dynein 2 intermediate chain 2 IFT74 intraflagellar transport 74 IFT88 intraflagellar transport 88 IFT43 intraflagellar transport 43 FUZ fuzzy planar cell polarity protein KIAA0586 KIAA0586 B9D1 B9 domain containing 1 FLVCR1 FLVCR choline and heme transporter 1 SLTM SAFB like transcription modulator GRK2 G protein-coupled receptor kinase 2 RAB34 RAB34, member RAS oncogene family	Reports Updated as of Feb 01, 2025	PubMed
Adrenocortical carcinoma	• Adrenal cortex cancer	Cancer disorders	TP53 tumor protein p53	Reports Updated as of Nov 30, 2023	PubMed
Cholangiocarcinoma		Cancer disorders	CXCR1 C-X-C motif chemokine receptor 1 PTGS2 prostaglandin-endoperoxide synthase 2	Reports Updated as of Nov 30, 2023	PubMed
Alveolar soft part sarcoma	• ASPS • Alveolar soft tissue sarcoma	Cancer disorders	ASPSCR1 ASPSCR1 tether for SLC2A4, UBX domain containing	Reports Updated as of Nov 30, 2023	PubMed
Ependymoma	• Classic ependymoma	Cancer disorders	MEN1 menin 1 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor	Reports Updated as of Nov 30, 2023	PubMed
Endometrial stromal sarcoma	• Endometrioid stromal sarcoma	Cancer disorders	NUTM2A NUT family member 2A NUTM2B NUT family member 2B JAZF1 JAZF zinc finger 1 SUZ12 SUZ12 polycomb repressive complex 2 subunit YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon	Reports Updated as of Dec 07, 2023	PubMed
Desmoid disease	• Desmoid tumor • Fibromatosis, familial infiltrative	Cancer disorders	APC APC regulator of WNT signaling pathway	Reports Updated as of Dec 29, 2023	PubMed
Glioblastoma	• Gliosarcoma (histologic variant) • Glioblastoma multiforme • GBM	Cancer disorders	IDH1 isocitrate dehydrogenase (NADP(+)) 1 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha EGFR epidermal growth factor receptor BRAF B-Raf proto-oncogene, serine/threonine kinase CREBBP CREB binding protein TP53 tumor protein p53 ATM ATM serine/threonine kinase MSH2 mutS homolog 2 SLX4 SLX4 structure-specific endonuclease subunit DNMT3A DNA methyltransferase 3 alpha	Reports Updated as of Dec 29, 2023	PubMed
Synovial sarcoma		Cancer disorders	SSX2 SSX family member 2	Reports Updated as of Dec 29, 2023	PubMed
Non-small cell lung carcinoma	• Non-small cell lung cancer	Cancer disorders	BRAF B-Raf proto-oncogene, serine/threonine kinase IRF1 interferon regulatory factor 1 ERBB2 erb-b2 receptor tyrosine kinase 2 KRAS KRAS proto-oncogene, GTPase EGFR epidermal growth factor receptor PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha NRAS NRAS proto-oncogene, GTPase DDR2 discoidin domain receptor tyrosine kinase 2 MAP2K1 mitogen-activated protein kinase kinase 1 ALK ALK receptor tyrosine kinase ARAF A-Raf proto-oncogene, serine/threonine kinase STK11 serine/threonine kinase 11 NOTCH1 notch receptor 1	Reports Updated as of Dec 29, 2023	PubMed
Sezary syndrome	• Sézary syndrome	Cancer disorders	BCL10 BCL10 immune signaling adaptor	Reports Updated as of Dec 29, 2023	PubMed
Primary myelofibrosis	• Idiopathic myelofibrosis • Agnogenic myeloid metaplasia • Myelofibrosis, somatic • Osteomyelofibrosis	Cancer disorders	SH2B3 SH2B adaptor protein 3 CALR calreticulin	Reports Updated as of Jan 04, 2024	PubMed
Pediatric hepatocellular carcinoma	• Childhood hepatocellular carcinoma • Childhood-onset hepatocellular carcinoma • Pediatric HCC	Cancer disorders	MET MET proto-oncogene, receptor tyrosine kinase	Reports Updated as of Jan 04, 2024	PubMed
Parathyroid carcinoma	• CDC73-Related Parathyroid Carcinoma • Parathyroid cancer • Parathyroid gland carcinoma • Parathyroid adenoma	Cancer disorders	CDC73 cell division cycle 73	Reports Updated as of Jan 04, 2024	PubMed
Oligodendroglioma		Cancer disorders	CIC capicua transcriptional repressor	Reports Updated as of Jan 04, 2024	PubMed
Neuroblastoma	• ALK-Related Neuroblastic Tumor Susceptibility	Cancer disorders	KIF1B kinesin family member 1B PHOX2B paired like homeobox 2B ALK ALK receptor tyrosine kinase FGFR1 fibroblast growth factor receptor 1 MYC MYC proto-oncogene, bHLH transcription factor BRCA2 BRCA2 DNA repair associated SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 PTCH1 patched 1	Reports Updated as of Jan 04, 2024	PubMed
Mantle cell lymphoma	• Mantle zone lymphoma	Cancer disorders	ATM ATM serine/threonine kinase	Reports Updated as of Feb 01, 2024	PubMed
Mucosa-associated lymphoma	• MALT lymphoma • MALToma • Mucosa-associated lymphatic tissue lymphoma • Mucosa-associated lymphoid tissue lymphoma	Cancer disorders	BCL10 BCL10 immune signaling adaptor	Reports Updated as of Feb 01, 2024	PubMed
Waldenstrom macroglobulinemia	• Macroglobulinemia, Waldenstrom, 1 • Waldenström macroglobulinemia • Waldenstrom's Macroglobulinemia	Cancer disorders	MYD88 MYD88 innate immune signal transduction adaptor	Reports Updated as of Feb 20, 2024	PubMed
Acute megakaryoblastic leukemia	• Acute megakaryocytic leukemia • Megakaryoblastic leukemia acute • AMKL • AML M7 • Acute myeloid leukemia M7	Cancer disorders	GATA1 GATA binding protein 1 TP53 tumor protein p53 JAK3 Janus kinase 3 JAK1 Janus kinase 1 SETD2 SET domain containing 2, histone lysine methyltransferase RAD21 RAD21 cohesin complex component CTCF CCCTC-binding factor SUZ12 SUZ12 polycomb repressive complex 2 subunit SRSF2 serine and arginine rich splicing factor 2	Reports Updated as of Jul 20, 2024	PubMed
Acute lymphoid leukemia	• Acute lymphocytic leukemia • Acute lymphoblastic leukemia • Precursor lymphoid neoplasm	Cancer disorders	FLT3 fms related receptor tyrosine kinase 3 ETV6 ETS variant transcription factor 6 PAX5 paired box 5 IKZF1 IKAROS family zinc finger 1 CDKN2A cyclin dependent kinase inhibitor 2A	Reports Updated as of Mar 09, 2023	PubMed
Takayasu arteritis	• Aortic arch syndrome	Cardiovascular disorders	MLXIPL MLX interacting protein like IL12B interleukin 12B HLA-B major histocompatibility complex, class I, B	Reports Updated as of Dec 29, 2023	PubMed
Cushing syndrome	• Cushing's syndrome	Endocrine disorders	ARMC5 armadillo repeat containing 5	Reports Updated as of Mar 09, 2023	PubMed
Insulin autoimmune syndrome	• Hirata disease	Endocrine disorders	AIRE autoimmune regulator	Reports Updated as of Feb 20, 2024	PubMed
Testicular agenesis	• Anorchia • Bilateral anorchia	Endocrine disorders	SRY sex determining region Y NR5A1 nuclear receptor subfamily 5 group A member 1 INSL3 insulin like 3 RXFP2 relaxin family peptide receptor 2	Reports Updated as of Mar 09, 2023	PubMed
Neuromyelitis optica spectrum disorder	• Devic disease • Devic syndrome • Neuromyelitis optica	Eye disorders	AQP4 aquaporin 4	Reports Updated as of Sep 05, 2023	PubMed
Primary intestinal lymphangiectasia	• Waldmann disease • Primary intestinal lymphangiectasis • Familial Waldmann's disease	Gastrointestinal disorders	FOXC2 forkhead box C2 PROX1 prospero homeobox 1	Reports Updated as of Jul 20, 2024	PubMed
Ulcerative colitis		Gastrointestinal disorders	NOD2 nucleotide binding oligomerization domain containing 2	Reports Updated as of Sep 05, 2023	PubMed
Autoimmune pancreatitis		Gastrointestinal disorders	IL33 interleukin 33 IFNA1 interferon alpha 1 ENPP2 ectonucleotide pyrophosphatase/phosphodiesterase 2 SPINK1 serine peptidase inhibitor Kazal type 1 CA2 carbonic anhydrase 2 PRSS1 serine protease 1 CELA1 chymotrypsin like elastase 1 CELA3B chymotrypsin like elastase 3B PRSS58 serine protease 58	Reports Updated as of Jul 20, 2024	PubMed
Ankylosing spondylitis	• Spondyloarthropathy	Immune disorders	PTGER4 prostaglandin E receptor 4	Reports Updated as of Sep 15, 2022	PubMed
Vasculitis		Immune disorders	ADA2 adenosine deaminase 2	Reports Updated as of Sep 05, 2023	PubMed
Granulomatosis with polyangiitis	• Midline granulomatosis • Wegener Granulomatosis • Wegener's granulomatosis	Immune disorders	CTLA4 cytotoxic T-lymphocyte associated protein 4 PRTN3 proteinase 3	Reports Updated as of May 24, 2023	PubMed
Goodpasture syndrome		Immune disorders	COL4A3 collagen type IV alpha 3 chain	Reports Updated as of Mar 09, 2023	PubMed
Autoerythrocyte sensitization syndrome	• Gardner-Diamond syndrome • Painful bruising syndrome • Psychogenic purpura • Gardner Diamond syndrome • GDS	Immune disorders	CRP C-reactive protein	Reports Updated as of Feb 20, 2024	PubMed
Scleroderma		Immune disorders	EXOSC10 exosome component 10	Reports Updated as of Sep 05, 2023	PubMed
Transverse myelitis		Immune disorders	VPS37A VPS37A subunit of ESCRT-I	Reports Updated as of Sep 05, 2023	PubMed
Primary sclerosing cholangitis	• PSC	Liver disorders	Snhg10 small nucleolar RNA host gene 10 SEMA4D semaphorin 4D GPR35 G protein-coupled receptor 35 STK4 serine/threonine kinase 4	Reports Updated as of Jan 04, 2024	PubMed
Primary biliary cholangitis	• Familial primary biliary cirrhosis • Hanot syndrome • Primary biliary cirrhosis	Liver disorders	TJP2 tight junction protein 2	Reports Updated as of Jan 04, 2024	PubMed
Progressive external ophthalmoplegia	• progressive external opthalmoplagia • Ophthalmoplegia, Chronic Progressive External	Metabolic disorders	TWNK twinkle mtDNA helicase POLG2 DNA polymerase gamma 2, accessory subunit RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B MT-TL1 mitochondrially encoded tRNA leucine 1 (UUA/G) POLG DNA polymerase gamma, catalytic subunit SLC25A4 solute carrier family 25 member 4 TK2 thymidine kinase 2 DGUOK deoxyguanosine kinase RNASEH1 ribonuclease H1 TOP3A DNA topoisomerase III alpha RRM1 ribonucleotide reductase catalytic subunit M1	Reports Updated as of Jul 20, 2024	PubMed
Amyloidosis		Metabolic disorders	OSMR oncostatin M receptor TTR transthyretin APOA1 apolipoprotein A1 IL31RA interleukin 31 receptor A GPNMB glycoprotein nmb	Reports Updated as of Sep 15, 2022	PubMed
Zellweger spectrum disorders	• Congenital iron overload • cerebrohepatorenal syndrome • Zellweger syndrome • Zellweger Spectrum • ZS • ZWS	Multisystemic disorders	PEX1 peroxisomal biogenesis factor 1 PEX6 peroxisomal biogenesis factor 6 PEX19 peroxisomal biogenesis factor 19	Reports Updated as of Feb 01, 2025	PubMed
Interstitial cystitis	• Painful bladder syndrome • Bladder pain syndrome • Chronic interstitial cystitis	Nephrological disorders	TP53 tumor protein p53	Reports Updated as of Sep 15, 2022	PubMed
Multicystic dysplastic kidneys		Nephrological disorders	HNF1B HNF1 homeobox B PAX2 paired box 2	Reports Updated as of Sep 05, 2023	PubMed
Primary progressive non fluent aphasia	• Progressive non-fluent aphasia	Neurodegenerative disorders	TBK1 TANK binding kinase 1	Reports Updated as of Jan 04, 2024	PubMed
Multiple sclerosis		Neurodegenerative disorders	NR1H3 nuclear receptor subfamily 1 group H member 3	Reports Updated as of Sep 15, 2022	PubMed
Progressive myoclonic epilepsy	• Progressive myoclonus epilepsy • PME	Neurodegenerative disorders	KCTD7 potassium channel tetramerization domain containing 7 GOSR2 golgi SNAP receptor complex member 2 PRICKLE2 prickle planar cell polarity protein 2 KCNC1 potassium voltage-gated channel subfamily C member 1 CERS1 ceramide synthase 1 EPM2A EPM2A glucan phosphatase, laforin LMNB2 lamin B2 SCARB2 scavenger receptor class B member 2 CSTB cystatin B	Reports Updated as of Dec 29, 2023	PubMed
Subacute cerebellar degeneration	• Paraneoplastic Cerebellar Degeneration	Neurodegenerative disorders	CDR2 cerebellar degeneration related protein 2 CDR2L cerebellar degeneration related protein 2 like	Reports Updated as of Sep 05, 2023	PubMed
Autism spectrum disorder	• ASD • Autism spectrum disorders	Neurodevelopmental disorders	TSC2 TSC complex subunit 2 SLC35A3 solute carrier family 35 member A3 AUTS2 activator of transcription and developmental regulator AUTS2 MEF2C myocyte enhancer factor 2C EHMT1 euchromatic histone lysine methyltransferase 1 TOP2B DNA topoisomerase II beta SHANK2 SH3 and multiple ankyrin repeat domains 2 SNRPN small nuclear ribonucleoprotein polypeptide N SCN2A sodium voltage-gated channel alpha subunit 2 POGZ pogo transposable element derived with ZNF domain CNTNAP2 contactin associated protein 2 PTEN phosphatase and tensin homolog HEPACAM hepatic and glial cell adhesion molecule DEAF1 DEAF1 transcription factor NF1 neurofibromin 1 SBF1 SET binding factor 1 IQSEC2 IQ motif and Sec7 domain ArfGEF 2 KMT2D lysine methyltransferase 2D UBN2 ubinuclein 2 MAP1B microtubule associated protein 1B ARHGEF9 Cdc42 guanine nucleotide exchange factor 9 PTCHD1 patched domain containing 1 SETD5 SET domain containing 5 PTPN11 protein tyrosine phosphatase non-receptor type 11 RERE arginine-glutamic acid dipeptide repeats NR4A2 nuclear receptor subfamily 4 group A member 2 SATB2 SATB homeobox 2 WDFY3 WD repeat and FYVE domain containing 3 ARID1B AT-rich interaction domain 1B KAT6A lysine acetyltransferase 6A STXBP1 syntaxin binding protein 1 ASXL1 ASXL transcriptional regulator 1 ADNP activity dependent neuroprotector homeobox ACTL6B actin like 6B DNMT3A DNA methyltransferase 3 alpha CNTN6 contactin 6 CIC capicua transcriptional repressor CHD2 chromodomain helicase DNA binding protein 2 CSNK2B casein kinase 2 beta KDM6A lysine demethylase 6A DYNC1H1 dynein cytoplasmic 1 heavy chain 1 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 EED embryonic ectoderm development MECP2 methyl-CpG binding protein 2 DCC DCC netrin 1 receptor TCF20 transcription factor 20 NR2F1 nuclear receptor subfamily 2 group F member 1 KDM5B lysine demethylase 5B SETD2 SET domain containing 2, histone lysine methyltransferase CEP104 centrosomal protein 104 SETD1A SET domain containing 1A, histone lysine methyltransferase SPEN spen family transcriptional repressor GRIN2B glutamate ionotropic receptor NMDA type subunit 2B DIP2A disco interacting protein 2 homolog A NBEA neurobeachin KDM3B lysine demethylase 3B ASXL2 ASXL transcriptional regulator 2 CHD3 chromodomain helicase DNA binding protein 3 EBF3 EBF transcription factor 3 GIGYF1 GRB10 interacting GYF protein 1 IRF2BPL interferon regulatory factor 2 binding protein like ASXL3 ASXL transcriptional regulator 3 BCL11B BCL11 transcription factor B HECTD4 HECT domain E3 ubiquitin protein ligase 4 AEBP1 AE binding protein 1 NRXN1 neurexin 1 ANK2 ankyrin 2 TNRC6B trinucleotide repeat containing adaptor 6B RIMS1 regulating synaptic membrane exocytosis 1 CHD8 chromodomain helicase DNA binding protein 8 KMT2A lysine methyltransferase 2A	Reports Updated as of Dec 29, 2023	PubMed
Hemimegalencephaly	• Unilateral megalencephaly	Neurodevelopmental disorders	PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha RHEB Ras homolog, mTORC1 binding PTEN phosphatase and tensin homolog	Reports Updated as of Dec 07, 2023	PubMed
Myasthenia gravis	• Acquired myasthenia • Autoimmune myasthenia gravis	Neuromuscular disorders	CHAT choline O-acetyltransferase	Reports Updated as of Sep 05, 2023	PubMed
Monomelic amyotrophy	• Hirayama disease • Spinal muscular atrophy juvenile nonprogressive • Juvenile muscular atrophy of the distal upper limb	Neuromuscular disorders	SLIT1 slit guidance ligand 1	Reports Updated as of Feb 01, 2024	PubMed
Congenital myopathy		Neuromuscular disorders	TPM3 tropomyosin 3 TPM2 tropomyosin 2 ACTA1 actin alpha 1, skeletal muscle MEGF10 multiple EGF like domains 10 MYH7 myosin heavy chain 7 RYR1 ryanodine receptor 1 HACD1 3-hydroxyacyl-CoA dehydratase 1 SELENON selenoprotein N CCDC78 coiled-coil domain containing 78 MYL1 myosin light chain 1 CACNA1S calcium voltage-gated channel subunit alpha1 S MYL2 myosin light chain 2 TNNC2 troponin C2, fast skeletal type DNAJB4 DnaJ heat shock protein family (Hsp40) member B4 SCN4A sodium voltage-gated channel alpha subunit 4 ASCC3 activating signal cointegrator 1 complex subunit 3 MYPN myopalladin	Reports Updated as of Mar 09, 2023	PubMed
Motor neurone disease		Neuromuscular disorders	C9orf72 C9orf72-SMCR8 complex subunit TARDBP TAR DNA binding protein	Reports Updated as of Sep 15, 2022	PubMed
Hirayama disease		Neuromuscular disorders	CPLANE1 ciliogenesis and planar polarity effector complex subunit 1 CEP126 centrosomal protein 126	Reports Updated as of May 24, 2023	PubMed
Chronic inflammatory demyelinating polyneuropathy	• CIDP • Chronic inflammatory demyelinating polyradiculoneuropathy	Neuromuscular disorders	PMP22 peripheral myelin protein 22	Reports Updated as of Nov 30, 2023	PubMed
Guillain-Barre syndrome	• GBS • Guillain-Barré syndrome	Neuromuscular disorders	PMP22 peripheral myelin protein 22	Reports Updated as of Nov 30, 2023	PubMed
Complex regional pain syndrome		Neuronal disorders	TNF tumor necrosis factor	Reports Updated as of Mar 09, 2023	PubMed
Perineural cyst	• Tarlov cyst	Neuronal disorders	HEXA hexosaminidase subunit alpha	Reports Updated as of Mar 09, 2023	PubMed
Myalgic encephalomyelitis	• Fatigue syndrome • Myalgic encephalomeyelitis/chronic fatigue syndrome	Neuronal disorders	TRPM3 transient receptor potential cation channel subfamily M member 3	Reports Updated as of Sep 05, 2023	PubMed
Fibromylagia		Pain syndrome	TRPV2 transient receptor potential cation channel subfamily V member 2 MYT1L myelin transcription factor 1 like NRXN3 neurexin 3	Reports Updated as of Mar 09, 2023	PubMed
Idiopathic pulmonary fibrosis		Respiratory disorders	TERT telomerase reverse transcriptase	Reports Updated as of May 24, 2023	PubMed
Phakomatosis pigmentokeratotica		Skin disorders	HRAS HRas proto-oncogene, GTPase	Reports Updated as of Jan 04, 2024	PubMed
Prurigo nodularis		Skin disorders	SEMA3A semaphorin 3A NGF nerve growth factor	Reports Updated as of Sep 05, 2023	PubMed
Toxic epidermal necrolysis	• Stevens-Johnson syndrome • Dermatostomatitis	Skin disorders	HLA-B major histocompatibility complex, class I, B IKZF1 IKAROS family zinc finger 1	Reports Updated as of Sep 05, 2023	PubMed
Vitiligo		Skin disorders	PTPN2 protein tyrosine phosphatase non-receptor type 2 NLRP1 NLR family pyrin domain containing 1 MTHFR methylenetetrahydrofolate reductase	Reports Updated as of Sep 05, 2023	PubMed
Pigmented villonodular synovitis		Tumor/Cancer	CSF1 colony stimulating factor 1 CSF1R colony stimulating factor 1 receptor	Reports Updated as of Sep 15, 2022	PubMed