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 |
| 81 | Episodic ataxia Autosomal dominant |
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 Updated as of Mar 09, 2023 |
PubMed |
| 82 | Facioscapulohumeral muscular dystrophy Autosomal dominant |
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 Updated as of Mar 09, 2023 |
PubMed |
| 83 | Familial adenomatous polyposis Autosomal dominant, Autosomal recessive |
Cancer disorders |
APC APC regulator of WNT signaling pathway MUTYH mutY DNA glycosylase MSH3 mutS homolog 3 NTHL1 nth like DNA glycosylase 1 STK11 serine/threonine kinase 11 |
Reports Updated as of Nov 30, 2023 |
PubMed |
| 84 | Familial cancer of breast Autosomal dominant |
Cancer disorders |
ATM ATM serine/threonine kinase RAD51 RAD51 recombinase BRCA2 BRCA2 DNA repair associated BRCA1 BRCA1 DNA repair associated PALB2 partner and localizer of BRCA2 BARD1 BRCA1 associated RING domain 1 CHEK2 checkpoint kinase 2 BRIP1 BRCA1 interacting helicase 1 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha CDH1 cadherin 1 PPM1D protein phosphatase, Mg2+/Mn2+ dependent 1D TP53 tumor protein p53 AKT1 AKT serine/threonine kinase 1 RB1CC1 RB1 inducible coiled-coil 1 RAD51D RAD51 paralog D PTEN phosphatase and tensin homolog PTCH2 patched 2 RAD54L RAD54 like ZNF462 zinc finger protein 462 |
Reports Updated as of Feb 26, 2025 |
PubMed |
| 85 | Familial Cold Autoinflammatory Syndrome Autosomal dominant |
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 Updated as of Sep 15, 2022 |
PubMed |
| 86 | Familial hypokalemia-hypomagnesemia Autosomal recessive |
Nephrological disorders |
SLC12A3 solute carrier family 12 member 3 MMP2-AS1 MMP2 antisense RNA 1 |
Reports Updated as of Jul 20, 2024 |
PubMed |
| 87 | Familial medullary thyroid carcinoma Autosomal dominant |
Cancer disorders |
RET ret proto-oncogene NTRK1 neurotrophic receptor tyrosine kinase 1 |
Reports Updated as of Dec 29, 2023 |
PubMed |
| 88 | Fanconi anemia Autosomal recessive, X-linked dominant |
Bone disorders |
FANCI FA complementation group I PALB2 partner and localizer of BRCA2 FANCL FA complementation group L FANCA FA complementation group A BRIP1 BRCA1 interacting helicase 1 FANCF FA complementation group F FANCG FA complementation group G RAD51C RAD51 paralog C FANCE FA complementation group E BRCA2 BRCA2 DNA repair associated FANCB FA complementation group B FANCD2 FA complementation group D2 FANCC FA complementation group C XRCC2 X-ray repair cross complementing 2 SLX4 SLX4 structure-specific endonuclease subunit ERCC4 ERCC excision repair 4, endonuclease catalytic subunit UBE2T ubiquitin conjugating enzyme E2 T BRCA1 BRCA1 DNA repair associated FANCM FA complementation group M RAD51 RAD51 recombinase MAD2L2 mitotic arrest deficient 2 like 2 RFWD3 ring finger and WD repeat domain 3 ZNF469 zinc finger protein 469 DCLRE1B DNA cross-link repair 1B |
Reports Updated as of Sep 05, 2023 |
PubMed |
| 89 | Fetal akinesia deformation sequence 1 Autosomal recessive |
Respiratory disorders |
MUSK muscle associated receptor tyrosine kinase DOK7 docking protein 7 RAPSN receptor associated protein of the synapse ASCC1 activating signal cointegrator 1 complex subunit 1 VPS13D vacuolar protein sorting 13 homolog D ASPM assembly factor for spindle microtubules CHRNG cholinergic receptor nicotinic gamma subunit ASAH1 N-acylsphingosine amidohydrolase 1 ADSS1 adenylosuccinate synthase 1 EARS2 glutamyl-tRNA synthetase 2, mitochondrial LGI4 leucine rich repeat LGI family member 4 RYR1 ryanodine receptor 1 GLDN gliomedin |
Reports Updated as of Feb 01, 2025 |
PubMed |
| 90 | Fetal akinesia deformation sequence 3 Autosomal recessive |
Respiratory disorders |
DOK7 docking protein 7 DOCK7 dedicator of cytokinesis 7 |
Reports Updated as of Feb 01, 2025 |
PubMed |