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List of monogenic disorders and their associated genes
Monogenic disorders arise from mutations in a single gene, but variations within that gene or in multiple genes can also lead to similar phenotypes, typically following Mendelian inheritance patterns associated with specific genetic changes.

Monogenic disorders list based on single and multiple genes

Disorder Name (Total=176)	Aliases	Category	Gene	Indian Reports	Link
Diamond-Blackfan anemia (AD)	•Congenital hypoplastic anemia •Congenital pure red cell aplasia •Anemia congenital erythroid hypoplastic •Aase syndrome •Aregenerative anemia chronic congenital •Blackfan Diamond syndrome •Congenital hypoplastic anemia •Erythrogenesis imperfecta •Red cell aplasia, pure hereditary	Blood disorders	RPL11 ribosomal protein L11 RPS26 ribosomal protein S26 RPS7 ribosomal protein S7 RPL5 ribosomal protein L5 RPS10 ribosomal protein S10 RPS19 ribosomal protein S19 RPS24 ribosomal protein S24 RPS17 ribosomal protein S17 RPL35A ribosomal protein L35a RPL26 ribosomal protein L26 RPL15 ribosomal protein L15 RPS29 ribosomal protein S29 TSR2 TSR2 ribosome maturation factor RPS28 ribosomal protein S28 RPS27 ribosomal protein S27 RPL27 ribosomal protein L27 EPO erythropoietin TP53 tumor protein p53 RPS15A ribosomal protein S15a RPL18 ribosomal protein L18 RPL35 ribosomal protein L35 GATA1 GATA binding protein 1 RPS20 ribosomal protein S20 HEATR3 HEAT repeat containing 3	Reports	PubMed
MYH9-related disorder (AD)	•May-Hegglin anomaly •Sebastian platelet syndrome •Sebastian syndrome •MYH9-related syndromic thrombocytopenia	Blood disorders	MYH9 myosin heavy chain 9	Reports	PubMed
Hereditary hemorrhagic telangiectasia (AD)	•Osler Weber Rendu syndrome	Blood disorders	ENG endoglin ACVRL1 activin A receptor like type 1	Reports	PubMed
Overhydrated hereditary stomatocytosis (AD)	•Potassium sodium disorder of erythrocyte •Stomatocytosis I	Blood disorders	RHAG Rh associated glycoprotein	Reports	PubMed
Immune thrombocytopenia (AD)	•Autoimmune thrombocytopenia •Immune thrombocytopenic purpura	Blood disorders	FCGR2B Fc gamma receptor IIb FCGR2C Fc gamma receptor IIc (gene/pseudogene)	Reports	PubMed
Primary familial polycythemia due to EPO receptor mutation (AD)	•Erythrocytosis •Primary familial polycythemia •Polycythemia •Primary congenital erythrocytosis	Blood disorders	EPOR erythropoietin receptor SH2B3 SH2B adaptor protein 3	Reports	PubMed
Trichorhinophalangeal syndrome (AD)	•Trichorhinophalangeal dysplasia type I	Bone disorders	TRPS1 transcriptional repressor GATA binding 1	Reports	PubMed
Autosomal dominant Robinow syndrome (AD)	•Robinow dwarfism •Fetal face syndrome •Robinow syndrome	Bone disorders	WNT5A Wnt family member 5A DVL1 dishevelled segment polarity protein 1 DVL3 dishevelled segment polarity protein 3 FZD2 frizzled class receptor 2 CHN1 chimerin 1	Reports	PubMed
Neurofibromatosis type 1 (AD)	•Von Recklinghausen disease •Peripheral type neurofibromatosis	Bone disorders	NF1 neurofibromin 1	Reports	PubMed
Progressive osseous heteroplasia (AD)	•Familial ectopic ossification • POH	Bone disorders	GNAS GNAS complex locus	Reports	PubMed
Camptomelic dysplasia (AD)	•Campomelic dysplasia •Campomelic dwarfism	Bone disorders	SOX9 SRY-box transcription factor 9	Reports	PubMed
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome (AD)	•Pseudoachondroplasia •Pseudoachondroplastic dysplasia	Bone disorders	COMP cartilage oligomeric matrix protein	Reports	PubMed
Hajdu-Cheney syndrome (AD)	•Arthrodentoosteodysplasia •Acroosteolysis with osteoporosis and changes in skull and mandible	Bone disorders	NOTCH2 notch receptor 2	Reports	PubMed
Gnathodiaphyseal dysplasia (AD)		Bone disorders	ANO5 anoctamin 5	Reports	PubMed
Oculodentodigital dysplasia (AD)		Bone disorders	GJA1 gap junction protein alpha 1	Reports	PubMed
Osteofibrous dysplasia (AD)		Bone disorders	MET MET proto-oncogene, receptor tyrosine kinase	Reports	PubMed
Coxopodopatellar syndrome (AD)	•Pulmonary arterial hypertension	Bone disorders	TBX4 T-box transcription factor 4	Reports	PubMed
Nail-patella syndrome (AD)	•Onychoosteodysplasia •Arthro-Onychodysplasia •Fong disease •Turner-Kieser syndrome	Bone disorders	LMX1B LIM homeobox transcription factor 1 beta	Reports	PubMed
Shprintzen-Goldberg syndrome (AD)		Bone disorders	SKI SKI proto-oncogene	Reports	PubMed
Nager syndrome (AD)	•Nager acrofacial dysostosis •Preaxial acrofacial dysostosis •Split hand deformity-mandibulofacial dysostosis	Bone disorders	SF3B4 splicing factor 3b subunit 4	Reports	PubMed
Congenital contractural arachnodactyly (AD)		Bone disorders	FBN2 fibrillin 2 FBN1 fibrillin 1	Reports	PubMed
Fibrous dysplasia of jaw (AD)	•Cherubism •CRBM	Bone disorders	SH3BP2 SH3 domain binding protein 2	Reports	PubMed
Greig cephalopolysyndactyly syndrome (AD)	•Greig syndrome •GCPS	Bone disorders	GLI3 GLI family zinc finger 3	Reports	PubMed
Acrocephalosyndactyly (AD)	•Apert syndrome	Bone disorders	FGFR2 fibroblast growth factor receptor 2	Reports	PubMed
Infantile cortical hyperostosis (AD)	•Caffey disease	Bone disorders	COL1A1 collagen type I alpha 1 chain A4GALT alpha 1,4-galactosyltransferase (P1PK blood group)	Reports	PubMed
Floating-Harbor syndrome (AD)	•Pelletier-Leisti syndrome	Bone disorders	SRCAP Snf2 related CREBBP activator protein	Reports	PubMed
Autosomal dominant osteopetrosis 2 (AD)	•Albers-Schönberg osteopetrosis •Albers-Schoenberg disease •Osteosclerosis fragilis generalisata •Albers-Schonberg disease, Autosomal Dominant •Autosomal Dominant Osteopetrosis Type II •Marble bones •Osteopetroses •Osteosclerosis fragilis	Bone disorders	CLCN7 chloride voltage-gated channel 7	Reports	PubMed
Craniodiaphyseal dysplasia, autosomal dominant (AD)	•Lion face syndrome or leontiasis ossea	Bone disorders	SOST sclerostin	Reports	PubMed
Thanatophoric dysplasia (AD)	•Thanatophoric dwarfism •Thanatophoric dysplasia type 1 •Thanatophoric dysplasia type 2	Bone disorders	FGFR3 fibroblast growth factor receptor 3	Reports	PubMed
Adams-Oliver syndrome 1 (AD)	•Congenital scalp defects with distal limb reduction anomalies •Adams-Oliver syndrome •Forrest H Adams syndrome •Scalp and head syndrome •Scalp defects with ectrodactyly	Bone disorders	ARHGAP31 Rho GTPase activating protein 31	Reports	PubMed
Acrodysostosis (AD)	•Arkless-Graham syndrome •Maroteaux-Malamut syndrome •Acrodysplasia	Bone disorders	PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha PDE4D phosphodiesterase 4D	Reports	PubMed
Metatropic dysplasia (AD)	•Metatropic skeletal dysplasia •Metatropic dwarfism	Bone disorders	TRPV4 transient receptor potential cation channel subfamily V member 4	Reports	PubMed
Metachondromatosis (AD)		Bone disorders	PTPN11 protein tyrosine phosphatase non-receptor type 11	Reports	PubMed
Osteoglophonic dysplasia (AD)	•Osteoglophonic Dwarfism	Bone disorders	FGFR1 fibroblast growth factor receptor 1	Reports	PubMed
Muenke syndrome (AD)	•FGFR3-Related craniosynostosis •Syndrome of coronal craniosynostosis •Muenke nonsyndromic coronal craniosynostosis	Bone disorders	FGFR3 fibroblast growth factor receptor 3	Reports	PubMed
Achondroplasia (AD)	•Congenital Osteosclerosis •SADDAN syndrome •Achondroplastic Dwarfism •Saddan dysplasia	Bone disorders	FGFR3 fibroblast growth factor receptor 3	Reports	PubMed
Pfeiffer syndrome (AD)		Bone disorders	FGFR2 fibroblast growth factor receptor 2 FGFR1 fibroblast growth factor receptor 1	Reports	PubMed
Myhre syndrome (AD)	•Growth mental deficiency syndrome of Myhre •LAPS syndrome	Bone disorders	SMAD4 SMAD family member 4	Reports	PubMed
Tarsal-carpal coalition syndrome (AD)		Bone disorders	NOG noggin	Reports	PubMed
Multiple congenital exostosis (AD)	•Multiple osteochondromas •Hereditary multiple exostosis •Multiple exostoses	Bone disorders	EXT1 exostosin glycosyltransferase 1	Reports	PubMed
Familial medullary thyroid carcinoma (AD)	•Medullary thyroid carcinoma •Medullary thyroid cancer	Cancer disorders	RET ret proto-oncogene NTRK1 neurotrophic receptor tyrosine kinase 1	Reports	PubMed
Gastrointestinal stroma tumor (AD)	•Gastrointestinal stromal sarcoma	Cancer disorders	PDGFRA platelet derived growth factor receptor alpha KIT KIT proto-oncogene, receptor tyrosine kinase SDHB succinate dehydrogenase complex iron sulfur subunit B SDHC succinate dehydrogenase complex subunit C SDHA succinate dehydrogenase complex flavoprotein subunit A	Reports	PubMed
Uveal melanoma (AD)	•Intraocular melanoma •Melanoma of the Uvea	Cancer disorders	GNAQ G protein subunit alpha q BAP1 BRCA1 associated protein 1	Reports	PubMed
Von Hippel-Lindau syndrome (AD)	•Von Hippel-Lindau disease	Cancer disorders	VHL von Hippel-Lindau tumor suppressor	Reports	PubMed
Schwannomatosis (AD)	•Neurilemmomatosis •Neurofibromatosis •Neurofibroma •Schwannoma	Cancer disorders	NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 LZTR1 leucine zipper like post translational regulator 1	Reports	PubMed
Cowden Syndrome (AD)	•Multiple hamartoma syndrome •Cowden disease •Cowden's disease •Cowden's syndrome	Cancer disorders	PTEN phosphatase and tensin homolog AKT1 AKT serine/threonine kinase 1 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha SDHD succinate dehydrogenase complex subunit D EGFR epidermal growth factor receptor SDHB succinate dehydrogenase complex iron sulfur subunit B SEC23B SEC23 homolog B, COPII coat complex component	Reports	PubMed
Hereditary breast ovarian cancer syndrome (AD)	•Familial susceptibility to Breast-Ovarian cancer •BRCA-related cancer •Breast-ovarian cancer, familial, susceptibility •Breast and ovarian cancer •Hereditary breast and ovarian cancer •Hereditary breast and ovarian cancer syndrome •Hereditary breast and ovarian cancer syndrome (HBOC) •Breast-ovarian cancer, familial, susceptibility to, 1 •Breast-ovarian cancer, familial, susceptibility to, 2	Cancer disorders	BRCA2 BRCA2 DNA repair associated BRCA1 BRCA1 DNA repair associated ATM ATM serine/threonine kinase RAD51B RAD51 paralog B BRIP1 BRCA1 interacting helicase 1 ABRAXAS1 abraxas 1, BRCA1 A complex subunit NBN nibrin PALB2 partner and localizer of BRCA2 CHEK2 checkpoint kinase 2 RAD51D RAD51 paralog D TP53 tumor protein p53 FANCM FA complementation group M XRCC2 X-ray repair cross complementing 2 VRK1 VRK serine/threonine kinase 1 FAN1 FANCD2 and FANCI associated nuclease 1 NF1 neurofibromin 1 MSH2 mutS homolog 2 MLH1 mutL homolog 1 RAD50 RAD50 double strand break repair protein RINT1 RAD50 interactor 1 RECQL RecQ like helicase BLM BLM RecQ like helicase RAD51C RAD51 paralog C EXO1 exonuclease 1 MUTYH mutY DNA glycosylase RAD54L RAD54 like CTNNA2 catenin alpha 2 MITF melanocyte inducing transcription factor SLC34A2 solute carrier family 34 member 2 CTNNA1 catenin alpha 1 DROSHA drosha ribonuclease III PLK2 polo like kinase 2 RIPK1 receptor interacting serine/threonine kinase 1 PTCH1 patched 1 ERCC6 ERCC excision repair 6, chromatin remodeling factor KRAS KRAS proto-oncogene, GTPase LCP1 lymphocyte cytosolic protein 1 HERPUD1 homocysteine inducible ER protein with ubiquitin like domain 1 BCAR1 BCAR1 scaffold protein, Cas family member FLCN folliculin FLNA filamin A BARD1 BRCA1 associated RING domain 1 FANCD2 FA complementation group D2 PNPT1 polyribonucleotide nucleotidyltransferase 1	Reports	PubMed
Multiple endocrine neoplasia, type 1 (AD)	•Wermer syndrome •Multiple endocrine neoplasia •Insulinoma	Cancer disorders	MEN1 menin 1 CDC73 cell division cycle 73	Reports	PubMed
Lynch syndrome (AD)		Cancer disorders	MSH2 mutS homolog 2 MSH6 mutS homolog 6 PMS2 PMS1 homolog 2, mismatch repair system component EPCAM epithelial cell adhesion molecule MLH1 mutL homolog 1 MLH3 mutL homolog 3 RB1 RB transcriptional corepressor 1 PALB2 partner and localizer of BRCA2 ATM ATM serine/threonine kinase CHEK2 checkpoint kinase 2	Reports	PubMed
Li-Fraumeni syndrome (AD)	•Sarcoma family syndrome of Li and Fraumeni	Cancer disorders	CHEK2 checkpoint kinase 2 TP53 tumor protein p53	Reports	PubMed
Choroid plexus papilloma (AD)	•Papilloma of choroid plexus •CPP	Cancer disorders	TP53 tumor protein p53	Reports	PubMed
Papillary renal cell carcinoma (AD)	•Papillary renal cell adenocarcinom	Cancer disorders	VHL von Hippel-Lindau tumor suppressor MET MET proto-oncogene, receptor tyrosine kinase SDHB succinate dehydrogenase complex iron sulfur subunit B PTEN phosphatase and tensin homolog ERBB2 erb-b2 receptor tyrosine kinase 2 ARAF A-Raf proto-oncogene, serine/threonine kinase BRAF B-Raf proto-oncogene, serine/threonine kinase PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha RHEB Ras homolog, mTORC1 binding ELOC elongin C TP53 tumor protein p53 MTOR mechanistic target of rapamycin kinase	Reports	PubMed
Muir-Torré syndrome (AD)	•Multiple keratoacanthoma •Muir-Torre syndrome	Cancer disorders	MSH2 mutS homolog 2 MLH1 mutL homolog 1	Reports	PubMed
Bannayan-Riley-Ruvalcaba syndrome (AD)		Cancer disorders	PTEN phosphatase and tensin homolog	Reports	PubMed
Marfan syndrome (AD)	•FBN1-Related Thoracic Aortic Aneurysms and Aortic Dissections •Marfan syndrome type 1 •Marfan syndrome, classic •Marfan's syndrome	Cardiovascular disorders	FBN1 fibrillin 1 COL1A2 collagen type I alpha 2 chain LTBP2 latent transforming growth factor beta binding protein 2 TGFBR2 transforming growth factor beta receptor 2 COL5A2 collagen type V alpha 2 chain NOTCH1 notch receptor 1 TGFB2 transforming growth factor beta 2	Reports	PubMed
Long QT syndrome (AD)		Cardiovascular disorders	SCN4B sodium voltage-gated channel beta subunit 4 KCNQ1 potassium voltage-gated channel subfamily Q member 1 AKAP9 A-kinase anchoring protein 9 KCNE2 potassium voltage-gated channel subfamily E regulatory subunit 2 CAV3 caveolin 3 SNTA1 syntrophin alpha 1 KCNJ5 potassium inwardly rectifying channel subfamily J member 5 SCN5A sodium voltage-gated channel alpha subunit 5 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 KCNH2 potassium voltage-gated channel subfamily H member 2 ANK2 ankyrin 2 CALM2 calmodulin 2 CACNA1C calcium voltage-gated channel subunit alpha1 C KCNJ2 potassium inwardly rectifying channel subfamily J member 2 RYR2 ryanodine receptor 2 TRPM4 transient receptor potential cation channel subfamily M member 4 CALM1 calmodulin 1 PKP2 plakophilin 2 CALM3 calmodulin 3 MYPN myopalladin RNF207 ring finger protein 207 CACNA1S calcium voltage-gated channel subunit alpha1 S MYH6 myosin heavy chain 6 MYBPC3 myosin binding protein C3 DSG2 desmoglein 2 CTNNA3 catenin alpha 3	Reports	PubMed
Supravalvar aortic stenosis (AD)	•Supravalvular aortic stenosis •SVAS	Cardiovascular disorders	ELN elastin	Reports	PubMed
Tetralogy of Fallot (AD)	•Fallot tetralogy	Cardiovascular disorders	JAG1 jagged canonical Notch ligand 1 NKX2-5 NK2 homeobox 5 GATA4 GATA binding protein 4 GATA6 GATA binding protein 6 ZFPM2 zinc finger protein, FOG family member 2 EPHB4 EPH receptor B4 NOTCH1 notch receptor 1 TPM1 tropomyosin 1 TBX1 T-box transcription factor 1 NIPBL NIPBL cohesin loading factor MT-CO1 mitochondrially encoded cytochrome c oxidase I MT-CO2 mitochondrially encoded cytochrome c oxidase II MT-CO3 mitochondrially encoded cytochrome c oxidase III ROBO1 roundabout guidance receptor 1 FLNC filamin C	Reports	PubMed
Hereditary lymphedema type I (AD)	•Milroy disease •Congenital hereditary lymphedema •Early onset lymphedema	Cardiovascular disorders	FLT4 fms related receptor tyrosine kinase 4 EPHB4 EPH receptor B4	Reports	PubMed
Beckwith-Wiedemann syndrome (AD)		Developmental / Cancer	CDKN1C cyclin dependent kinase inhibitor 1C NSD1 nuclear receptor binding SET domain protein 1 DNMT1 DNA methyltransferase 1	Reports	PubMed
Meniere disease (AD)	•Meniere's disease •Ménière Disease	Ear disorders	FAM136A family with sequence similarity 136 member A DTNA dystrobrevin alpha MYO7A myosin VIIA CDH23 cadherin related 23 SHROOM2 shroom family member 2 TECTA tectorin alpha	Reports	PubMed
Prolactin-producing pituitary gland adenoma (AD)	•Prolactinoma •Prolactinoma, familial •Pituitary prolactin cell adenoma	Endocrine disorders	LRP2 LDL receptor related protein 2	Reports	PubMed
Somatotroph adenoma (AD)	•Pituitary gigantism, Acromegaly •Acromegaly •Pituitary gigantism	Endocrine disorders	AIP aryl hydrocarbon receptor interacting protein MEN1 menin 1	Reports	PubMed
SHORT syndrome (AD)	•Lipodystrophy-Rieger anomaly-diabetes syndrome	Endocrine disorders	PIK3R1 phosphoinositide-3-kinase regulatory subunit 1	Reports	PubMed
Pseudopseudohypoparathyroidism (AD)	•AHO-PPHP syndrome •Albright hereditary osteodystrophy-PPHP syndrome •Albright hereditary osteodystrophy without multiple hormone resistance	Endocrine disorders	GNAS GNAS complex locus	Reports	PubMed
Syndromic microphthalmia type 5 (AD)	•MCOPS5 •Syndromic microphthalmia due to OTX2 mutation	Eye disorders	OTX2 orthodenticle homeobox 2	Reports	PubMed
Schnyder crystalline corneal dystrophy (AD)	•Crystalline stromal dystrophy •Schnyder corneal dystrophy •Schnyder's crystalline corneal dystrophy	Eye disorders	UBIAD1 UbiA prenyltransferase domain containing 1	Reports	PubMed
Morning glory disc anomaly (AD)	•Ectasic coloboma •Morning glory syndrome	Eye disorders	PAX6 paired box 6	Reports	PubMed
Map-dot-fingerprint corneal dystrophy (AD)	•Epithelial basement membrane dystrophy •Corneal epithelial dystrophy	Eye disorders	TGFBI transforming growth factor beta induced	Reports	PubMed
Doyne honeycomb retinal dystrophy (AD)	•Familial drusen •Malattia leventinese	Eye disorders	EFEMP1 EGF containing fibulin extracellular matrix protein 1	Reports	PubMed
Renal coloboma syndrome (AD)	•Coloboma of optic nerve with renal disease •Optic nerve coloboma with renal disease •Papillorenal syndrome	Eye disorders	PAX2 paired box 2	Reports	PubMed
Retinoblastoma (AD)		Eye disorders	RB1 RB transcriptional corepressor 1 FANCM FA complementation group M	Reports	PubMed
Waardenburg syndrome (AD)		Eye disorders / Ear disorders	PAX3 paired box 3 SOX10 SRY-box transcription factor 10 MITF melanocyte inducing transcription factor EDNRB endothelin receptor type B EDN3 endothelin 3 KITLG KIT ligand	Reports	PubMed
Peutz-Jeghers syndrome (AD)	•Hamartomatous intestinal polyposis •Periorificial lentiginosis syndrome •Lentiginosis, perioral •Peutz-Jeghers polyposis •Polyposis, hamartomatous intestinal •Polyps-and-spots syndrome	Gastrointestinal disorders	STK11 serine/threonine kinase 11	Reports	PubMed
Hereditary pancreatitis (AD)	•Hereditary chronic pancreatitis	Gastrointestinal disorders	PRSS1 serine protease 1 SPINK1 serine peptidase inhibitor Kazal type 1 CFTR CF transmembrane conductance regulator CTRC chymotrypsin C CPA1 carboxypeptidase A1	Reports	PubMed
Beaded hair (AD)	•Monilethrix •Nodose hair •Moniliform hair syndrome	Hair disorders	KRT83 keratin 83 KRT81 keratin 81 KRT86 keratin 86	Reports	PubMed
Blau syndrome (AD)	•Arthrocutaneouveal granulomatosis	Immune disorders	NOD2 nucleotide binding oligomerization domain containing 2	Reports	PubMed
Deafness-lymphedema-leukemia syndrome (AD)	•Emberger syndrome •Hearing loss-lymphedema-leukemia syndrome	Immune disorders	GATA2 GATA binding protein 2	Reports	PubMed
BENTA disease (AD)	•B-cell expansion with NFKB and T-cell anergy	Immune disorders	CARD11 caspase recruitment domain family member 11	Reports	PubMed
Cryopyrin associated periodic syndrome (AD)	•Cryopyrin-associated periodic syndrome •CAPS •Cryopyrinopathy •NLRP3-associated systemic autoinflammatory disease	Immune disorders	NLRP3 NLR family pyrin domain containing 3	Reports	PubMed
Systemic lupus erythematosus (AD)	•Lupus nephritis	Immune disorders	IRF5 interferon regulatory factor 5 BLK BLK proto-oncogene, Src family tyrosine kinase TREX1 three prime repair exonuclease 1 SOCS1 suppressor of cytokine signaling 1 TLR7 toll like receptor 7	Reports	PubMed
Sarcoidosis (AD)	•Besnier-Boeck-Schaumann disease •Boeck sarcoid	Immune disorders	BTNL2 butyrophilin like 2	Reports	PubMed
TNF receptor-associated periodic fever syndrome (AD)	•TRAPS syndrome •Familial Hibernian fever •Tumor necrosis factor receptor 1 associated periodic syndrome	Immune disorders	TNFRSF1A TNF receptor superfamily member 1A	Reports	PubMed
STING-associated vasculopathy with onset in infancy (AD)	•SAVI	Immune disorders	STING1 stimulator of interferon response cGAMP interactor 1	Reports	PubMed
Familial Cold Autoinflammatory Syndrome (AD)	•Cold urticaria	Immune disorders	NLRP12 NLR family pyrin domain containing 12 NLRP3 NLR family pyrin domain containing 3 PLCG2 phospholipase C gamma 2 NLRC4 NLR family CARD domain containing 4	Reports	PubMed
Metaphyseal chondrodysplasia, Jansen type (AD)		Immune disorders	PTH1R parathyroid hormone 1 receptor	Reports	PubMed
Alagille syndrome (AD)		Liver disorders	JAG1 jagged canonical Notch ligand 1 NOTCH2 notch receptor 2	Reports	PubMed
Leucine-induced hypoglycemia (AD)	•Familial infantile hypoglycemia precipitated by leucine •Leucine-sensitive hypoglycemia of infancy	Metabolic disorders	ABCC8 ATP binding cassette subfamily C member 8	Reports	PubMed
Variegate porphyria (AD)	•Protoporphyrinogen oxidase deficiency •Porphyria variegata	Metabolic disorders	PPOX protoporphyrinogen oxidase	Reports	PubMed
Familial partial lipodystrophy (AD)	•Familial partial lipodystrophy, Dunnigan type •FPLD	Metabolic disorders	LMNA lamin A/C	Reports	PubMed
Autosomal dominant hypocalcemia (AD)	•AD hypocalcemia	Metabolic disorders	CASR calcium sensing receptor GNA11 G protein subunit alpha 11	Reports	PubMed
Hypokalemic periodic paralysis, type 1 (AD)	•Westphall disease •Hypokalemic periodic paralysis	Metabolic disorders	CACNA1S calcium voltage-gated channel subunit alpha1 S CLCN1 chloride voltage-gated channel 1	Reports	PubMed
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 (AD)	•PEOA5 •Chronic Progressive External Ophthalmoplegia with Multiple mtDNA Deletions •Progressive external ophthalmoplegia, autosomal dominant 5 •RRM2B-Related chronic [rogressive external ophthalmoplegia with multiple mtDNA deletions	Metabolic disorders	RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B	Reports	PubMed
Acute intermittent porphyria (AD)	•Acute Porphyria •HMBS deficiency •Hydroxymethylbilane Synthase Deficiency •Porphobilinogen deaminase deficiency •Uroporphyrinogen synthase deficiency	Metabolic disorders	HMBS hydroxymethylbilane synthase ABCB6 ATP binding cassette subfamily B member 6 (LAN blood group)	Reports	PubMed
Maturity onset diabetes mellitus in young (MODY) (AD)	•Familial hyperinsulinism •Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young •Maturity-onset diabetes of the young type 1	Metabolic disorders	HNF4A hepatocyte nuclear factor 4 alpha	Reports	PubMed
Sea-blue histiocyte syndrome (AD)	•Sea-blue histiocytosis •Inherited Lipemic Splenomegaly •Sea-Blue histiocyte disease	Metabolic disorders/Lysosomal storage disorders	APOE apolipoprotein E	Reports	PubMed
Hypoparathyroidism, deafness, renal disease syndrome (AD)	•Barakat syndrome •Hypoparathyroidism-sensorineural deafness-renal disease syndrome	Multisystemic disorders	GATA3 GATA binding protein 3	Reports	PubMed
Familial amyloid nephropathy with urticaria and deafness (AD)	•Muckle-Wells syndrome •Neutrophilic urticaria •Urticaria, deafness and amyloidosis •UDA syndrome	Nephrological disorders	NLRP3 NLR family pyrin domain containing 3	Reports	PubMed
Familial juvenile hyperuricemic nephropathy type 1 (AD)		Nephrological disorders	UMOD uromodulin	Reports	PubMed
Autosomal dominant polycystic kidney disease (AD)	•ADPKD	Nephrological disorders	PKD2 polycystin 2, transient receptor potential cation channel PKD1 polycystin 1, transient receptor potential channel interacting GANAB glucosidase II alpha subunit DNAJB11 DnaJ heat shock protein family (Hsp40) member B11	Reports	PubMed
Pseudohypoaldosteronism type 2 (AD)		Nephrological disorders	WNK1 WNK lysine deficient protein kinase 1 WNK4 WNK lysine deficient protein kinase 4 CUL3 cullin 3 KLHL3 kelch like family member 3	Reports	PubMed
Creutzfeldt-Jakob disease (AD)		Neurodegenerative disorders	PRNP prion protein	Reports	PubMed
Frontotemporal dementia (AD)	•FTD	Neurodegenerative disorders	CHMP2B charged multivesicular body protein 2B TARDBP TAR DNA binding protein MAPT microtubule associated protein tau PSEN1 presenilin 1 VCP valosin containing protein C9orf72 C9orf72-SMCR8 complex subunit CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10 SQSTM1 sequestosome 1 TBK1 TANK binding kinase 1 GRN granulin precursor MEF2C myocyte enhancer factor 2C CSF1R colony stimulating factor 1 receptor VPS13C vacuolar protein sorting 13 homolog C ABCA7 ATP binding cassette subfamily A member 7 KIF5A kinesin family member 5A CCNF cyclin F CYLD CYLD lysine 63 deubiquitinase TREM2 triggering receptor expressed on myeloid cells 2 HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1 OPTN optineurin CHRNB4 cholinergic receptor nicotinic beta 4 subunit GLT8D1 glycosyltransferase 8 domain containing 1	Reports	PubMed
Spinocerebellar ataxia type 27 (AD)	•Cerebellar ataxia autosomal dominant FGF14-related •Spinocerebellar ataxia 27b, Late-Onset (SCA27B)	Neurodegenerative disorders	FGF14 fibroblast growth factor 14	Reports	PubMed
Spinocerebellar ataxia type 1 (AD)	•Cerebelloparenchymal disorder 1 •Olivopontocerebellar atrophy 1 •Olivopontocerebellar atrophy 4 •Spinocerebellar atrophy 1	Neurodegenerative disorders	ATXN1 ataxin 1	Reports	PubMed
Spinocerebellar ataxia type 2 (AD)	•Olivopontocerebellar atrophy 2 •Olivopontocerebellar atrophy Holguin type •Spinocerebellar ataxia Cuban type •Spinocerebellar ataxia with slow eye movements •Wadia Swami syndrome	Neurodegenerative disorders	ATXN2 ataxin 2	Reports	PubMed
Perry syndrome (AD)	•Parkinsonism with alveolar hypoventilation and mental depression	Neurodegenerative disorders	DCTN1 dynactin subunit 1	Reports	PubMed
Spinocerebellar ataxia type 5 (AD)		Neurodegenerative disorders	SPTBN2 spectrin beta, non-erythrocytic 2	Reports	PubMed
Spinocerebellar ataxia 12 (AD)		Neurodegenerative disorders	PPP2R2B protein phosphatase 2 regulatory subunit Bbeta	Reports	PubMed
Spinocerebellar ataxia type 7 (AD)	•Ataxia with pigmentary retinopathy •Cerebellar syndrome-pigmentary maculopathy syndrome •SCA7	Neurodegenerative disorders	ATXN7 ataxin 7	Reports	PubMed
Spinocerebellar ataxia type 8 (AD)		Neurodegenerative disorders	ATXN8OS ATXN8 opposite strand lncRNA	Reports	PubMed
Spinocerebellar ataxia type 10 (AD)		Neurodegenerative disorders	ATXN10 ataxin 10	Reports	PubMed
Spinocerebellar ataxia type 14 (AD)		Neurodegenerative disorders	PRKCG protein kinase C gamma	Reports	PubMed
Spinocerebellar ataxia type 17 (AD)	•Huntington disease-like 4 •Cerebelloparenchymal disorder II •Olivopontocerebellar atrophy 5 •SCA 17	Neurodegenerative disorders	TBP TATA-box binding protein	Reports	PubMed
Spinocerebellar ataxia type 6 (AD)		Neurodegenerative disorders	CACNA1A calcium voltage-gated channel subunit alpha1 A	Reports	PubMed
Spinocerebellar ataxia type 18 (AD)	•Sensorimotor neuropathy with ataxia, autosomal dominant •SCA18	Neurodegenerative disorders	IFRD1 interferon related developmental regulator 1	Reports	PubMed
Spinocerebellar ataxia type 20 (AD)	•Autosomal recessive spinocerebellar ataxia 20 •SCA20	Neurodegenerative disorders	SNX14 sorting nexin 14	Reports	PubMed
Spinocerebellar ataxia type 21 (AD)	•SCA21	Neurodegenerative disorders	TMEM240 transmembrane protein 240	Reports	PubMed
Spinocerebellar ataxia 46 (AD)	•Spinocerebellar ataxia type 46	Neurodegenerative disorders	PLD3 phospholipase D family member 3	Reports	PubMed
Spinocerebellar ataxia type 28 (AD)	•SCA28	Neurodegenerative disorders	AFG3L2 AFG3 like matrix AAA peptidase subunit 2	Reports	PubMed
Spinocerebellar ataxia type 42 (AD)		Neurodegenerative disorders	CACNA1G calcium voltage-gated channel subunit alpha1 G	Reports	PubMed
Spinocerebellar ataxia type 34 (AD)	•Giroux barbeau syndrome •SCA34	Neurodegenerative disorders	ELOVL4 ELOVL fatty acid elongase 4	Reports	PubMed
Spinocerebellar ataxia type 40 (AD)		Neurodegenerative disorders	CCDC88C coiled-coil domain containing 88C	Reports	PubMed
Spinocerebellar ataxia type 35 (AD)		Neurodegenerative disorders	TGM6 transglutaminase 6	Reports	PubMed
Sotos syndrome (AD)		Neurodevelopmental disorders	NSD1 nuclear receptor binding SET domain protein 1	Reports	PubMed
Lateral meningocele syndrome (AD)	•Lehman syndrome	Neurodevelopmental disorders	NOTCH3 notch receptor 3	Reports	PubMed
Oromandibular-limb hypogenesis spectrum (AD)	•Moebius syndrome	Neurodevelopmental disorders	SIM1 SIM bHLH transcription factor 1 EBF3 EBF transcription factor 3 CHN1 chimerin 1	Reports	PubMed
Angelman syndrome (AD)	•Happy puppet syndrome	Neurodevelopmental disorders	UBE3A ubiquitin protein ligase E3A MECP2 methyl-CpG binding protein 2 CDKL5 cyclin dependent kinase like 5 HIVEP2 HIVEP zinc finger 2 GABRG3 gamma-aminobutyric acid type A receptor subunit gamma3	Reports	PubMed
Schuurs-Hoeijmakers syndrome (AD)	•Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome •PACS1-related syndrome •Autosomal Dominant Mental Retardation Syndrome type 17 (MRD17) •Mental Retardation, Autosomal Dominant 17	Neurodevelopmental disorders	PACS1 phosphofurin acidic cluster sorting protein 1	Reports	PubMed
Phelan-McDermid syndrome (AD)	•Monosomy 22q13.3 •Phelan McDermid syndrome	Neurodevelopmental disorders	SHANK3 SH3 and multiple ankyrin repeat domains 3	Reports	PubMed
Dystonia 12 (AD)	•Rapid-onset dystonia-parkinsonism •DYT-ATP1A3	Neurodevelopmental disorders	ATP1A3 ATPase Na+/K+ transporting subunit alpha 3	Reports	PubMed
Kabuki syndrome (AD)		Neurodevelopmental disorders	KMT2D lysine methyltransferase 2D KDM6A lysine demethylase 6A KMT2A lysine methyltransferase 2A KMT2B lysine methyltransferase 2B	Reports	PubMed
Prader-willi syndrome (AD)		Neurodevelopmental disorders	MAGEL2 MAGE family member L2 HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2	Reports	PubMed
Obsessive compulsive disorder (AD)		Neurodevelopmental disorders	HTR2A 5-hydroxytryptamine receptor 2A SLC6A4 solute carrier family 6 member 4 HTR2C 5-hydroxytryptamine receptor 2C	Reports	PubMed
Noonan syndrome (AD)	•MAP2K1-Related Noonan Syndrome •Noonan's syndrome •Pseudo-Turner syndrome	Neurodevelopmental disorders	SHOC2 SHOC2 leucine rich repeat scaffold protein RRAS2 RAS related 2 KRAS KRAS proto-oncogene, GTPase SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 PTPN11 protein tyrosine phosphatase non-receptor type 11 CBL Cbl proto-oncogene NRAS NRAS proto-oncogene, GTPase RAF1 Raf-1 proto-oncogene, serine/threonine kinase BRAF B-Raf proto-oncogene, serine/threonine kinase RIT1 Ras like without CAAX 1 SPRED1 sprouty related EVH1 domain containing 1 LZTR1 leucine zipper like post translational regulator 1 SOS2 SOS Ras/Rho guanine nucleotide exchange factor 2 PPP1CB protein phosphatase 1 catalytic subunit beta MAP2K1 mitogen-activated protein kinase kinase 1 A2ML1 alpha-2-macroglobulin like 1 RRAS RAS related MRAS muscle RAS oncogene homolog GJB2 gap junction protein beta 2 MAPK1 mitogen-activated protein kinase 1 CLTC clathrin heavy chain SPRED2 sprouty related EVH1 domain containing 2 MAP2K2 mitogen-activated protein kinase kinase 2 RASA2 RAS p21 protein activator 2	Reports	PubMed
Williams syndrome (AD)		Neurodevelopmental disorders	ELN elastin	Reports	PubMed
Silver-Russell syndrome (AD)	•Silver-Russell dwarfism •Silver Russell syndrome	Neurodevelopmental disorders	CDKN1C cyclin dependent kinase inhibitor 1C IGF2 insulin like growth factor 2 PLAG1 PLAG1 zinc finger HMGA2 high mobility group AT-hook 2	Reports	PubMed
Dystonia 28 (AD)	•DYT-KMT2B	Neurodevelopmental disorders	KMT2B lysine methyltransferase 2B	Reports	PubMed
Lennox-Gastaut syndrome (AD)		Neurodevelopmental disorders	GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 CHD2 chromodomain helicase DNA binding protein 2 DNM1 dynamin 1	Reports	PubMed
Primary erythromelalgia (AD)	•SCN9A-Related Inherited Erythromelalgia •Primary erythermalgia •Erythermalgia, primary	Neurodevelopmental disorders	SCN9A sodium voltage-gated channel alpha subunit 9	Reports	PubMed
Severe myoclonic epilepsy in infancy (AD)	•Dravet syndrome •Severe myoclonus epilepsy of infancy •SMEI	Neurodevelopmental disorders	SCN1A sodium voltage-gated channel alpha subunit 1 GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 SNX27 sorting nexin 27 SCN9A sodium voltage-gated channel alpha subunit 9	Reports	PubMed
Kleefstra syndrome (AD)		Neurodevelopmental disorders	EHMT1 euchromatic histone lysine methyltransferase 1 KMT2C lysine methyltransferase 2C PAEP progestagen associated endometrial protein	Reports	PubMed
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder (AD)	•ADNP syndrome •HVDAS •Helsmoortel-Van Der Aa Syndrome	Neurodevelopmental disorders	ADNP activity dependent neuroprotector homeobox	Reports	PubMed
Episodic ataxia (AD)		Neuromuscular disorders	CACNB4 calcium voltage-gated channel auxiliary subunit beta 4 CACNA1A calcium voltage-gated channel subunit alpha1 A SLC1A3 solute carrier family 1 member 3 KCNA1 potassium voltage-gated channel subfamily A member 1 SCN2A sodium voltage-gated channel alpha subunit 2	Reports	PubMed
Facioscapulohumeral muscular dystrophy (AD)	•Landouzy-Dejerine dystrophy •FSH dystrophy	Neuromuscular disorders	SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 DNMT3B DNA methyltransferase 3 beta LRIF1 ligand dependent nuclear receptor interacting factor 1	Reports	PubMed
Paramyotonia congenita of Von Eulenburg (AD)	•Myotonia congenita •Thomsen and Becker disease •Eulenburg disease	Neuromuscular disorders	SCN4A sodium voltage-gated channel alpha subunit 4	Reports	PubMed
Early-onset generalized limb-onset dystonia (AD)	•Early-onset primary dystonia •Early-onset primary dystonia •Early-onset primary dystonia •Early onset primary dystonia	Neuromuscular disorders	TOR1A torsin family 1 member A	Reports	PubMed
Steinert myotonic dystrophy syndrome (AD)	•Steinert disease •Myotonic dystrophy 1 •Steinert myotonic dystrophy •Dystrophia myotonica •Myotonic dystrophy type 1	Neuromuscular disorders	DMPK DM1 protein kinase	Reports	PubMed
Myotonic dystrophy type 2 (AD)	•Proximal myotonic myopathy •Myotonic dystrophy 2 •Proximal myotonic dystrophy •Ricker disease •Ricker syndrome	Neuromuscular disorders	CNBP CCHC-type zinc finger nucleic acid binding protein	Reports	PubMed
Central core myopathy (AD)	•Central core disease •Muscle core disease •Shy-Magee syndrome	Neuromuscular disorders	RYR1 ryanodine receptor 1	Reports	PubMed
Van der Woude syndrome 1 (AD)	•IRF6-Related disorders	Oral disorders	IRF6 interferon regulatory factor 6 GRHL3 grainyhead like transcription factor 3	Reports	PubMed
Van der Woude syndrome 2 (AD)	•VWS2	Oral disorders	GRHL3 grainyhead like transcription factor 3	Reports	PubMed
Dentinogenesis imperfecta type 2 (AD)		Oral disorders	DSPP dentin sialophosphoprotein	Reports	PubMed
Solitary median maxillary central incisor (AD)	•Fused incisors •Single central incisor syndrome •Single central maxillary incisor •SMMCI syndrome	Oral disorders	SHH sonic hedgehog signaling molecule	Reports	PubMed
Lacrimoauriculodentodigital syndrome (AD)	•LADD syndrome •Lacrimo-auriculo-dento-digital syndrome •LARD syndrome •Lacrimoauriculoradiodental syndrome	Oral disorders	FGF10 fibroblast growth factor 10	Reports	PubMed
Isolated Pierre-Robin syndrome (AD)	•Isolated Pierre Robin sequence	Oral disorders	SNRPB small nuclear ribonucleoprotein polypeptides B and B1	Reports	PubMed
Familial spontaneous pneumothorax (AD)	•Pneumothorax, primary spontaneous	Respiratory disorders	FLCN folliculin	Reports	PubMed
Keratosis follicularis (AD)	•Darier disease •Darier-White Disease	Skin disorders	ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 MBTPS2 membrane bound transcription factor peptidase, site 2	Reports	PubMed
Blue rubber bleb nevus (AD)	•Bean syndrome •BRBN •Blue Rubber Bleb Nevus Syndrome	Skin disorders	GLMN glomulin, FKBP associated protein	Reports	PubMed
Multiple fibrofolliculomas (AD)	•Birt-Hogg-Dubé syndrome •BHD syndrome •Birt-Hogg-Dube syndrome	Skin disorders	FLCN folliculin	Reports	PubMed
Naegeli-Franceschetti-Jadassohn syndrome (AD)	•Reticular skin changes, dental anomalies, decreased function of sweat glands, strabismus, and optic atrophy •NFJ syndrome	Skin disorders	KRT14 keratin 14	Reports	PubMed
Cheilitis glandularis (AD)		Skin disorders	CAST calpastatin	Reports	PubMed
Aplasia cutis congenita (AD)	•Scalp defect congenital •Aplasia cutis congenita nonsyndromic	Skin disorders	BMS1 BMS1 ribosome biogenesis factor	Reports	PubMed
ADULT syndrome (AD)	•Acro-dermato-ungual-lacrimal-tooth syndrome	Skin disorders	TP63 tumor protein p63	Reports	PubMed
Familial benign pemphigus (AD)	•Hailey-Hailey disease •Hailey Hailey disease •Familial benign chronic pemphigus •Benign chronic familial pemphigus of Hailey-Hailey •Benign Chronic Pemphigus	Skin disorders	ATP2C1 ATPase secretory pathway Ca2+ transporting 1	Reports	PubMed
Pachyonychia congenita (AD)		Skin disorders	KRT17 keratin 17 KRT16 keratin 16 KRT6B keratin 6B KRT6A keratin 6A	Reports	PubMed
Piebaldism (AD)	•Partial albinism	Skin disorders	KIT KIT proto-oncogene, receptor tyrosine kinase	Reports	PubMed
Dowling-Degos disease (AD)	•Reticular pigment anomaly of flexures	Skin disorders	KRT5 keratin 5 POFUT1 protein O-fucosyltransferase 1 POGLUT1 protein O-glucosyltransferase 1	Reports	PubMed
Porokeratosis of Mibelli (AD)	•Porokeratosis, Mibelli	Skin disorders	PMVK phosphomevalonate kinase	Reports	PubMed
Brooke-Spiegler syndrome (AD)	•CYLD cutaneous syndrome	Skin disorders	CYLD CYLD lysine 63 deubiquitinase	Reports	PubMed
Acute febrile neutrophilic dermatosis (AD)	•Sweet Syndrome •Gomm Button disease	Skin disorders	MEFV MEFV innate immunity regulator, pyrin	Reports	PubMed
Pemphigus vulgaris (AD)		Skin disorders	HLA-DRB1 major histocompatibility complex, class II, DR beta 1 HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 HLA-B major histocompatibility complex, class I, B DSG3 desmoglein 3 ST18 ST18 C2H2C-type zinc finger transcription factor TNF tumor necrosis factor	Reports	PubMed
Ichthyosis bullosa of Siemens (AD)	•Superficial epidermolytic ichthyosis	Skin disorders	KRT2 keratin 2	Reports	PubMed
Steatocystoma multiplex (AD)	•Sebocystomatosis •Multiple sebaceous cysts •Disseminated sebocystomatosis	Skin disorders	KRT17 keratin 17	Reports	PubMed
Tuberous Sclerosis (AD)		Tumor/Cancer	TSC1 TSC complex subunit 1 TSC2 TSC complex subunit 2 SERPINC1 serpin family C member 1	Reports	PubMed
Neurofibromatosis type 2 (AD)		Tumor/Cancer	NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor	Reports	PubMed