| Gene |
Chromosome |
Location |
Syndrome |
Category |
| H19 | 11 | p15.5 | BECKWITH-WIEDEMANN SYNDROME | Autism spectrum | |
| HABP2 | 10 | q25.3 | Thyroid disorders | Hypothyroidism | |
| HADH | 4 | q25 | Congenital hyperinsulinism | Diabetes | |
| HADH | 4 | q25 | 3-hydroxyacyl-CoA dehydrogenase deficiency | Reye`s Syndrome-like diseases | |
| HADHA | 2 | p23.3 | Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency | Reye`s Syndrome-like diseases | |
| HADHA | 2 | p23.3 | Mitochondrial trifunctional protein deficiency | Reye`s Syndrome-like diseases | |
| HADHB | 2 | p23.3 | Mitochondrial trifunctional protein deficiency | Reye`s Syndrome-like diseases | |
| HARS2 | 5 | q31.3 | Perrault syndrome | Ataxia spectrum | |
| HAVCR1 | 5 | q33.2 | Asthma-related traits (ASRT) | Asthma | |
| HBA1 | 16 | p13.3 | Alpha thalassemia | Microcephaly | |
| HBA2 | 16 | p13.3 | Alpha thalassemia | Microcephaly | |
| HBII-85 | 15 | p11-13 | Prader-Willi | Autism spectrum | |
| HCFC1 | 23 | q28 | Microcephaly - other | Microcephaly | |
| HCFC1 | 23 | q28 | methylmalonic acidemia with homocystinuria | Vitamin B12 metabolism spectrum | |
| HCN1 | 5 | p12 | Epileptic encephalopathy early infantile 24 (EIEE24) | Autism spectrum | |
| HCN4 | 15 | q24.1 | Sick sinus syndrome | Bradycardia (<60 beats/minute) | |
| HCRT | 17 | q21.2 | Narcolepsy | Sleep disorders | |
| HDAC4 | 2 | q37.3 | Brachydactyly-mental retardation syndrome | Autism spectrum | |
| HDAC8 | 23 | q13 | Cornelia de Lange Syndrome | Autism spectrum | |
| HDAC8 | 23 | q13.1 | Microcephaly - other | Microcephaly | |
| HDC | 15 | q21.2 | HISTIDINE DECARBOXYLASE | Autism spectrum | |
| HECTD4 | 12 | q24.13 | Autism 18 (AUTS18) | Autism spectrum | |
| HECW2 | 2 | q32.3 | Neurodevelopmental disorder with hypotonia seizures and absent language | Epilepsy and seizures | |
| HEPACAM | 11 | q24.2 | Megalencephalic leukoencephalopathy with subcortical cysts type 02 | Ataxia spectrum | |
| HERC2 | 15 | q13 | Prader-Willi | Autism spectrum | |
| HEXA | 15 | q23 | Tay-Sachs disease | Ataxia spectrum | |
| HEXB | 5 | q13.3 | Sandhoff disease | Ataxia spectrum | |
| HFE | 6 | p21.3 | X-linked sideroblastic anemia | Tachycardia (>100 beats/minute) | |
| HFM | 14 | q32 | HEMIFACIAL MICROSOMIA | Autism spectrum | |
| HIES1 | 17 | q21.2 | HYPER-IgE RECURRENT INFECTION SYNDROME 1 AUTOSOMAL DOMINANT | Autism spectrum | |
| HIP1 | 7 | q11.23 | Huntington`s disease | Huntington`s disease spectrum | |
| HIVEP2 | 6 | q24.2 | HIVEP2-related intellectual disability | Panic phobia anxiety | |
| HLA-B | 6 | p21.33 | Rheumatoid arthritis | Arthritis | |
| HLA-B | 6 | p21.33 | SJS/TEN Stevens-Johnson syndrome/toxic epidermal necrolysis | Alopecia | |
| HLA-DPB1 | 6 | p21.32 | Rheumatoid arthritis | Arthritis | |
| HLA-DQA1 | 6 | p21.32 | Narcolepsy | Sleep disorders | |
| HLA-DQA1 | 6 | p21.32 | Type 1 Diabetes | Diabetes | |
| HLA-DQA1 | 6 | p21.3 | Gluten allergy | Gluten intolerance | |
| HLA-DQB1 | 6 | p21.32 | Narcolepsy | Sleep disorders | |
| HLA-DQB1 | 6 | p21.3 | Gluten allergy | Gluten intolerance | |
| HLA-DQB1 | 6 | p21.32 | Type 1 Diabetes | Diabetes | |
| HLA-DRB1 | 6 | p21.3 | Graves Disease | Bradycardia (<60 beats/minute) | |
| HLA-DRB1 | 6 | p21.32 | Rheumatoid arthritis | Arthritis | |
| HLA-DRB1 | 6 | p21.32 | Crohn Disease | Irritable Bowel Disorders | |
| HLA-DRB1 | 6 | p21.32 | Type 1 Diabetes | Diabetes | |
| HLA-DRB1 | 6 | p21.32 | Narcolepsy | Sleep disorders | |
| HLA-DRB1 | 6 | p21.32 | Graves disease - overactive thyroid | Hyperthyroidism | |
| HLA-DRB1 | 6 | p21.32 | Hashimoto thyroiditis | Hypothyroidism | |
| HLCS | 21 | q22.13 | Holocarboxylase synthetase deficiency with alopecia | Alopecia | |
| HLCS | 21 | q22.13 | Holocarboxylase synthetase deficiency | Autism spectrum | |
| HMGCL | 1 | p36.11 | 3-hydroxy-3-methylglutaryl-CoA lyase deficiency | Reye`s Syndrome-like diseases | |
| HNF1A | 12 | q24.31 | Congenital hyperinsulinism | Diabetes | |
| HNF1A | 12 | q24.31 | Type 1 Diabetes | Diabetes | |
| HNF1B | 17 | q12 | 17q12 deletion syndrome | Diabetes | |
| HNF4A | 20 | q13.12 | Type 1 Diabetes | Diabetes | |
| HNF4A | 20 | q13.12 | Congenital hyperinsulinism | Diabetes | |
| HNF4A | 20 | q13.12 | Type 2 Diabetes | Diabetes | |
| HNRNPA1 | 12 | q13.13 | ALS | ALS - amyotrophic lateral sclerosis | |
| HNRNPH2 | 23 | q22.1 | Mental retardation X-linked syndromic Bain type | Autism spectrum | |
| HNRNPU | 1 | q44 | Epileptic encephalopathy early infantile 54 (EIEE54) | Epilepsy and seizures | |
| HOMER1 | 5 | q14.1 | HOMER DROSOPHILA HOMOLOG OF 1 | Autism spectrum | |
| HOMGSMR1 | 10 | q24.32 | HYPOMAGNESEMIA SEIZURES AND MENTAL RETARDATION 1 | Autism spectrum | |
| HOMGSMR2 | 1 | p13.1 | HYPOMAGNESEMIA SEIZURES | Autism spectrum | |
| HOXA1 | 7 | p15.2 | HOMEOBOX A1 AND MENTAL RETARDATION 2 | Autism spectrum | |
| HP | 16 | q22.2 | Crohn Disease | Irritable Bowel Disorders | |
| HPANBH4 | 10 | q21.3 | HYPERPHENYLALANINEMIA MILD NON-BH4-DEFICIENT | Autism spectrum | |
| HPD | 12 | q24.31 | Tyrosinemia type 03 | Ataxia spectrum | |
| HPMRS1 | 1 | p36.11 | HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 | Autism spectrum | |
| HPS1 | 10 | q24.2 | Hermansky-Pudlak syndrome | Irritable Bowel Disorders | |
| HPS3 | 3 | q24 | Hermansky-Pudlak syndrome | Irritable Bowel Disorders | |
| HPS4 | 22 | q12.1 | Hermansky-Pudlak syndrome | Irritable Bowel Disorders | |
| HPS5 | 11 | p15.1 | Hermansky-Pudlak syndrome | Irritable Bowel Disorders | |
| HPS6 | 10 | q24.32 | Hermansky-Pudlak syndrome | Irritable Bowel Disorders | |
| HPSE2 | 10 | q23-24 | Ochoa syndrome | Cerebral palsy | |
| HR | 8 | p21.3 | Alopecia universalis congenita (ALUNC) | Alopecia | |
| HR | 8 | p21.3 | Thyroid disorders | Hypothyroidism | |
| HR | 8 | p21.3 | Atrichia with papular lesions | Alopecia | |
| HR | 8 | p21.3 | Hypotrichosis 4 | Alopecia | |
| HRAS | 11 | p15.5 | Thyroid disorders | Hypothyroidism | |
| HSCR2 | 13 | q22.3 | HIRSCHSPRUNG DISEASE SUSCEPTIBILITY TO 2 | Autism spectrum | |
| HSD17B10 | 23 | p11.22 | HSD10 disease | Epilepsy and seizures | |
| HSD17B4 | 5 | q23.1 | Perrault syndrome | Ataxia spectrum | |
| HSPA4 | 5 | q31.1 | Cerebral palsy - unassigned | Cerebral palsy | |
| HSPBAP1 | 3 | q21.1 | intractable epilepsy | Epilepsy and seizures | |
| HTR1A | 5 | q12.3 | Periodic fever - menstrual cycle-dependent | Panic phobia anxiety | |
| HTR2A | 13 | q14.2 | Seasonal affective disorder | Sleep disorders | |
| HTR7 | 10 | q23.31 | 5-HYDROXYTRYPTAMINE RECEPTOR 7 | Autism spectrum | |
| HTRA1 | 10 | q26.13 | Cerebral autosomal recessive arteriopathy (CARASIL) | Alopecia | |
| HTRA2 | 2 | p13.1 | Parkinson disease 13 | Parkinsonism |
| HTT | 4 | p16.3 | Huntington`s disease | Huntington`s disease spectrum | |
| HYMAI | 6 | q24.2 | 6q24-related transient neonatal diabetes mellitus | Diabetes | |
| HYRPRO1 | 22 | q11.21 | HYPERPROLINEMIA TYPE I | Autism spectrum | |