Gene |
Chromosome |
Location |
Syndrome |
Category |
KALRN | 3 | q21.1 | Huntington`s disease | Huntington`s disease spectrum | |
KANK1 | 9 | p24.3 | Cerebral palsy spastic quadriplegic type 2 (CPSQ2) disorder | Cerebral palsy | |
KANSL1 | 17 | q21.13 | Koolen-de Vries syndrome | Epilepsy and seizures | |
KAT6B | 10 | q22.2 | Microcephaly - other | Microcephaly | |
KATNAL2 | 18 | q21.1 | Autism 16 with epilepsy (AUTS16) | Autism spectrum | |
KCDT7 | 7 | q11.21 | progressive myoclonic epilepsy 3 | Epilepsy and seizures | |
KCNA1 | 12 | p13.32 | Episodic ataxia | Ataxia spectrum | |
KCNB1 | 20 | q13.13 | Epileptic encephalopathy early infantile 26 | Epilepsy and seizures | |
KCND2 | 7 | q31 | Potassium gated epilepsy and autism | Autism spectrum | |
KCNH5 | 14 | q23.2 | POTASSIUM CHANNEL VOLTAGE-GATED SUBFAMILY H MEMBER 5 | Autism spectrum | |
KCNJ10 | 1 | q23.2 | SeSAME syndrome | Epilepsy and seizures | |
KCNJ11 | 11 | p15.1 | Gestational diabetes | Diabetes | |
KCNJ11 | 11 | p15.1 | Permanent neonatal diabetes mellitus | Diabetes | |
KCNJ11 | 11 | p15.1 | Congenital hyperinsulinism | Diabetes | |
KCNJ18 | 17 | p11.2 | Thyroid disorders | Hypothyroidism | |
KCNQ1 | 11 | p15.5 | Gestational diabetes | Diabetes | |
KCNQ1OT1 | 11 | p15.5 | BECKWITH-WIEDEMANN SYNDROME | Autism spectrum | |
KCNQ2 | 20 | q13.33 | Benign familial neonatal seizures | Epilepsy and seizures | |
KCNQ3 | 8 | q24.22 | Benign familial neonatal seizures | Epilepsy and seizures | |
KCNT1 | 9 | q34.3 | Microcephaly - other | Microcephaly | |
KCNT1 | 9 | q34.3 | Autosomal dominant nocturnal frontal lobe epilepsy | Epilepsy and seizures | |
KCTD13 | 16 | p11.2 | POTASSIUM CHANNEL TETRAMERIZATION DOMAIN-CONTAINING PROTEIN 13 | Autism spectrum | |
KCTD3 | 1 | q41 | POTASSIUM CHANNEL TETRAMERIZATION DOMAIN-CONTAINING PROTEIN 3 | Autism spectrum | |
KDM5B | 1 | q32.1 | Autism 16 with epilepsy (AUTS16) | Autism spectrum | |
KDM5C | 23 | p11.22 | LYSINE-SPECIFIC DEMETHYLASE 5C | Autism spectrum | |
KDM6A | 23 | p11.3 | Kabuki syndrome | Asthma | |
KDM6A | 23 | p11.3 | Microcephaly - other | Microcephaly | |
KDM6B | 17 | p13.1 | Autism 18 (AUTS18) | Autism spectrum | |
KDVS | 17 | q21.31 | Koolen-de Vries syndrome | Epilepsy and seizures | |
KIAA0319 | 6 | p22.3 | Dyslexia type 2 | Dyslexia | |
KIAA0442 | 7 | q11.22 | AUTISM - NOT SPECIFIED | Autism spectrum | |
KIAA2022 | 23 | q13.3 | Mental retardation X-linked 94 (MRX94) | Autism spectrum | |
KIF1C | 17 | p13.2 | Spastic ataxia autosomal recessive type 02 | Ataxia spectrum | |
KIF5A | 12 | q13.3 | Rheumatoid arthritis | Arthritis | |
KIF5C | 2 | q23.1 | Cortical dysplasia with other brain malformations 2 (CDCBM2) | Arthrogryposis spectrum | |
KLEFS1 | 9 | q34.3 | KLEEFSTRA SYNDROME 1 | Autism spectrum | |
KLEFS2 | 7 | q36.1 | KLEEFSTRA SYNDROME 2 | Autism spectrum | |
KLF11 | 2 | p25.1 | Type 2 Diabetes | Diabetes | |
KMT2A | 11 | q23.3 | Wiedemann-Steiner syndrome | Autism spectrum | |
KMT2C | 7 | q36.1 | Autism 18 (AUTS18) | Autism spectrum | |
KMT2D | 12 | q13.12 | Microcephaly - other | Microcephaly | |
KMT5B | 11 | q13.2 | SHANK2 Deletion Syndrome | Autism spectrum | |
KNL1 | 15 | q15.1 | Microcephaly - other | Microcephaly | |
KNO1 | 21 | q22.3 | KNOBLOCH SYNDROME 1 | Autism spectrum | |
KPTS | 23 | q22.2 | KEIPERT SYNDROME | Autism spectrum | |
KRAS | 12 | p12.1 | Cardiofaciocutaneous syndrome | Autism spectrum | |
KRAS | 12 | p12.1 | Noonan syndrome | Autism spectrum | |
KRAS | 12 | p12.1 | Autoimmune lymphoproliferative syndrome | Guillain-Barre spectrum | |
KRT12 | 17 | q21.2 | Meesmann corneal dystrophy | Photophobia - sensitivity to light | |
KRT14 | 17 | q21.2 | NFJS/DPR Naegeli-Franceschetti-Jadassohn syndrome | Alopecia | |
KRT18 | 12 | q13.13 | Cryptogenic cirrhosis | Diabetes | |
KRT3 | 12 | q13.13 | Meesmann corneal dystrophy | Photophobia - sensitivity to light | |
KRT8 | 12 | q13.13 | Cryptogenic cirrhosis | Diabetes | |