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.
View information by inheritance mode
| S.No. | Genetic Disorders Modes of inheritance |
Category | Gene symbol | Indian context |
Links |
| 181 | Neurodegeneration with brain iron accumulation Autosomal dominant, Autosomal recessive |
Neurodegenerative disorders |
PLA2G6 phospholipase A2 group VI C19orf12 chromosome 19 open reading frame 12 WDR45 WD repeat domain 45 COASY Coenzyme A synthase FA2H fatty acid 2-hydroxylase CRAT carnitine O-acetyltransferase REPS1 RALBP1 associated Eps domain containing 1 ATP13A2 ATPase cation transporting 13A2 DCAF17 DDB1 and CUL4 associated factor 17 FTH1 ferritin heavy chain 1 |
Reports Updated as of Feb 01, 2025 |
PubMed |
| 182 | Neuronal ceroid lipofuscinosis Autosomal dominant, Autosomal recessive |
Metabolic disorders/Lysosomal storage disorders |
MFSD8 major facilitator superfamily domain containing 8 CLN5 CLN5 intracellular trafficking protein TPP1 tripeptidyl peptidase 1 CLN8 CLN8 transmembrane ER and ERGIC protein CLN3 CLN3 lysosomal/endosomal transmembrane protein, battenin PPT1 palmitoyl-protein thioesterase 1 CTSD cathepsin D CTSF cathepsin F CLN6 CLN6 transmembrane ER protein GRN granulin precursor DNAJC5 DnaJ heat shock protein family (Hsp40) member C5 KCTD7 potassium channel tetramerization domain containing 7 |
Reports Updated as of Sep 05, 2023 |
PubMed |
| 183 | Non-ketotic hyperglycinemia Autosomal recessive |
Metabolic disorders |
AMT aminomethyltransferase GLDC glycine decarboxylase GCSH glycine cleavage system protein H PCDH19 protocadherin 19 |
Reports Updated as of Feb 20, 2024 |
PubMed |
| 184 | Non-small cell lung carcinoma |
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 |
| 185 | Noonan syndrome Autosomal dominant |
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 Updated as of Mar 09, 2023 |
PubMed |
| 186 | Obsessive compulsive disorder Autosomal dominant |
Neurodevelopmental disorders |
HTR2A 5-hydroxytryptamine receptor 2A SLC6A4 solute carrier family 6 member 4 HTR2C 5-hydroxytryptamine receptor 2C |
Reports Updated as of Mar 09, 2023 |
PubMed |
| 187 | Oculopharyngeal muscular dystrophy Autosomal dominant, Autosomal recessive |
Neuromuscular disorders |
PABPN1 poly(A) binding protein nuclear 1 ANXA11 annexin A11 HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1 |
Reports Updated as of Nov 30, 2023 |
PubMed |
| 188 | Oromandibular-limb hypogenesis spectrum Autosomal dominant |
Neurodevelopmental disorders |
SIM1 SIM bHLH transcription factor 1 EBF3 EBF transcription factor 3 CHN1 chimerin 1 |
Reports Updated as of Sep 15, 2022 |
PubMed |
| 189 | Osteogenesis imperfecta Autosomal dominant, Autosomal recessive, X-linked dominant |
Bone disorders |
P3H1 prolyl 3-hydroxylase 1 FKBP10 FKBP prolyl isomerase 10 CRTAP cartilage associated protein PPIB peptidylprolyl isomerase B COL1A2 collagen type I alpha 2 chain COL1A1 collagen type I alpha 1 chain SERPINH1 serpin family H member 1 SERPINF1 serpin family F member 1 BMP1 bone morphogenetic protein 1 TMEM38B transmembrane protein 38B WNT1 Wnt family member 1 IFITM5 interferon induced transmembrane protein 5 SP7 Sp7 transcription factor SPARC secreted protein acidic and cysteine rich TENT5A terminal nucleotidyltransferase 5A MBTPS2 membrane bound transcription factor peptidase, site 2 CREB3L1 cAMP responsive element binding protein 3 like 1 SLC34A1 solute carrier family 34 member 1 MESD mesoderm development LRP chaperone KDELR2 KDEL endoplasmic reticulum protein retention receptor 2 GBE1 1,4-alpha-glucan branching enzyme 1 LRP5 LDL receptor related protein 5 XYLT2 xylosyltransferase 2 PHLDB1 pleckstrin homology like domain family B member 1 |
Reports Updated as of Sep 15, 2022 |
PubMed |
| 190 | Otospondylomegaepiphyseal dysplasia Autosomal recessive |
Bone disorders |
COL11A2 collagen type XI alpha 2 chain COL2A1 collagen type II alpha 1 chain |
Reports Updated as of Jan 04, 2024 |
PubMed |