Achromatopsia

Eyes

CNGA3

Acral mutilation syndrome

Brain and Spinal Cord

GDNF

Acrodermatitis (lethal)

Skin & connective tissue

MKLN1

Afibrinogenaemia

Blood

FGA

Alexander disease

Brain and Spinal Cord

GFAP

Autosomal Recessive Amelogenesis Imperfecta

Other Systems

ACPT, ENAM

Bladder Transitional Carcinoma

Kidney and Bladder

BRAF

Bleeding disorder

Blood

P2RY12

Brachicephaly

Skeletal

BMP3

Canine Elliptocytosis

Blood

SPTB

Canine Fucosidosis

Multisystem

FUCA1

Canine Leukocyte Adhesion Deficiency Type I, CLAD I

Blood

ITGB2

Canine Leukocyte Adhesion Deficiency Type III

Blood

FERMT3

Canine Leukocyte Adhesion Deficiency Type III, CLAD III

Blood

FERMT3

Canine Multifocal Retinopathy

Eyes

BEST1

Cardiomyopathy and Juvenile Mortality

Heart

YARS2, PLN,

Centronuclear Myopathy, CNM

Muscular

DNM2, PTPLA

Cerebellar Ataxia, Progressive Early-Onset Cerebellar Ataxia

Brain and Spinal Cord

SEL1L

Cerebellar disfunctions, degeneration

Brain and Spinal Cord

SNX14, SLC5A12, VLDLR

Ciliary dyskinesia, primary

Multisystem

CCDC39

Cleft Lip and/or Cleft Palate

Skeletal

ADAMTS20

Complement 3 Deficiency, C3 Deficiency

Immune

C3

Congenital Alopecia

Skin & Connective Tissue

SGK3

Congenital Hypothyroidism

Hormones

TPO

Congenital idiopathic megaesophagus

Multisystem

MCHR2

Congenital Keratoconjunctivitis Sicca and Ichthyosiform Dermatosis, Dry Eye

Multisystem

FAM83H

Congenital Macrothrombocytopenia

Blood

TUBB1

Congenital Myasthenic Syndrome

Neuromuscular

LOC608697, CHAT, CHRNE

Congenital Stationary Night Blindness

Eyes

LRIT3

Copper Toxicosis (Attenuating)

Metabolic

ATP7A, ATP7B

Craniomandibular Osteopathy, CMO

Skeletal

SLC37A2

Cystinuria

Kidney and Bladder

SLC3A1, SLC7A9

Deafness and Vestibular Syndrome of Dobermans

Other Systems

MY07A

Degenerative myelopathy

Brain and Spinal Cord

SOD1

Degenerative Myelopathy, DM

Brain and Spinal Cord

SOD1

Demyelinating Polyneuropathy

Neuromuscular

NDRG1, SBF2

Disproportionate Dwarfism

Hormones

PRKG2

Early Bilateral Deafness

Other Systems

LOXHD1

Ectodermal Dysplasia, Skin Fragility Syndrome

Skin & Connective Tissue

PKP1, EDA

Ehlers-Danlos Syndrome (EDS)

Skin & Connective Tissue

ADAMTS2, COL5A1, COL5A2, TNXB

Epidermolysis Bullosa

Skin & Connective Tissue

LAMB3, LAMA3, PLEC, COL7A1, SLC5A5

Epilepsy

Brain and Spinal Cord

DIRAS1, PITRM1

Exercise-Induced Collapse, EIC

Brain and Spinal Cord

DNM1

Exercise Induced Myopathy

Muscular

ACADVL

Factor VII Deficiency

Blood

F7

Familial Nephropathy

Kidney and Bladder

COL4A5, COL4A4

Gangliosidosis

Multisystem

HEXB, GLB1, HEXA

Glanzmann's Thrombasthenia Type I

Blood

ITGA2B

Globoid Cell Leukodystrophy, Krabbe disease

Multisystem

GALC

Glycogen Storage Disease Type IA, Von Gierke Disease, GSD IA

Multisystem

G6PC

Glycogen Storage Disease Type IIIA, GSD IIIA

Multisystem

AGL

Glycogen storage disease Type VII, Phosphofructokinase Deficiency, PFK Deficiency

Multisystem

PFKM

Hemophilia B

Blood

F8, F9

Hereditary Ataxia

Brain and Spinal Cord

PNPLA8, HACE1, KCNIP4, SPTBN2

Hereditary Ataxia, Cerebellar Degeneration

Brain and Spinal Cord

RAB24

Hereditary Cataracts, Early-Onset Cataracts, Juvenile Cataracts

Eyes

HSF4

Hereditary Footpad Hyperkeratosis

Skin & Connective Tissue

FAM83G, DSG1

Hereditary Nasal Parakeratosis

SUV39H2

Hereditary Vitamin D-Resistant Rickets

Skeletal

VDR

Hereditary Xanthinuria, Xanthinuria Type I

Kidney and Bladder

XDH, MOCOS

Hyperekplexia (Startle disease)

Eyes

SLC6A5

Hyperuricosuria and Hyperuricemia or Urolithiasis, HUU

Kidney and Bladder

SLC2A9

Hypocatalasia, Acatalasemia

Metabolic

CAT

Hypomyelination and Tremors

Brain and Spinal Cord

FNIP2

Hypophosphatasia

Skeletal

ALPL

Ichthyosis

Skin & Connective Tissue

NIPAL4, SLC27A4, KRT10, ASPRV1, ABHD5

Imerslund-Grasbeck Syndrome, Selective Cobalamin Malabsorption

Gastrointestinal

CUBN

Juvenile-Onset Polyneuropathy

Brain and Spinal Cord

GJA9, RAB3GAP1

Lagotto Storage Disease

Multisystem

ATG4D

Laryngeal Paralysis and Polyneuropathy

Neuromuscular

CNTNAP1

Leukodystrophy

Brain and Spinal Cord

GFAP, TSEN54

Lundehund Syndrome

Gastrointestinal

P3H2

Lupoid Dermatosis

Skin & Connective Tissue

UNC93B1

Macular Corneal Dystrophy, MCD

Eyes

CHST6

Malignant Hyperthermia

Metabolic

RYR1

Mammary Carcinoma

Multisystem

TRIM71

Mannosidosis

Metabolic

MANBA

May-Hegglin Anomaly

Blood

MYH9

MDR1 Drug Sensitivity

Clinical

ABCB1

Melanoma

Skin & Connective Tissue

U6

Methemoglobinemia

Blood

CYB5R3

Microphthalmia

Eyes

SIX6

Mucopolysaccharidosis

Multisystem

IDUA, GUSB, ARSB, SGSH

Muscular Dystrophy

Brain and Spinal Cord

DMD, SGCD, SGCA, COL6A1, COL6A3, LARGE, LAMA2

Musladin-Lueke Syndrome, MLS

Skin & Connective Tissue

ADAMTSL2

Myeloperoxidase deficiency

Brain and Spinal Cord

MPO

Myotonia Congenita

Muscular

CLCN1

Myotubular Myopathy 1, X-linked

Muscular

MTM1

Narcolepsy

Brain and Spinal Cord

HCRTR2

Nemaline Myopathy

Muscular

NEB

Neonatal Encephalopathy with Seizures

Brain and Spinal Cord

ATF2

Neonatal Interstitial Lung Disease

Other Systems

ITGA2B

Neuroaxonal Dystrophy

Brain and Spinal Cord

PLA2G6, TECPR2, VPS11

Neuronal Ceroid Lipofuscinosis

Mutisystem

CLN5, ARSG, CTSD, PPT1, CLN6, CLN8, ATP13A2

Neutropenia

Blood

AP3B1

Night blindness, congenital stationary, LRIT3-related

Eyes

LRIT3

Oculocutaneous albinism

Skin & Connective Tissue

SLC45A2, OCA2, TYR

Osteogenesis Imperfecta, Brittle Bone Disease

Skeletal

SERPINH1, COL1A1, COL1A2

Paroxysmal Dyskinesia

Neuromuscular

PIGN

Paroxysmal Dyskinesia, PxD

Neuromuscular

PIGN

Persistent Mullerian Duct Syndrome

Other Systems

AMHR2

Pituitary Dwarfism

Hormones

POU1F1

Platelet Factor X Receptor Deficiency, Scott Syndrome

Blood

ANO6

Polycystic Kidney Disease

Kidney and Bladder

PKD1

Prekallikrein Deficiency

Blood

KLKB1

Primary Ciliary Dyskinesia, PCD

Multisystem

NME5, CCDC39

Primary Hyperoxaluria

Kidney and Bladder

AGXT

Primary Lens Luxation

Eyes

ADAMTS17

Primary Open Angle Glaucoma

Eyes

ADAMTS10, ADAMTS17

Progressive Retinal Atrophy

Eyes

TTC8, CNGA1, CCDC66, SAG, NECAP1, SLC4A3, PDE6B, PDE6A, IQCB1, CNGB1, RHO, PRCD

Progressive Retinal Atrophy, Bardet-Biedl Syndrome

Eyes

BBS2, BBS4

Proportionate Dwarfism

Hormones

LHX3, GH1

Pyruvate Kinase Deficiency

Blood

PDP1, PKLR

Raine Syndrome, Canine Dental Hypomineralization Syndrome

Skeletal

FAM20C

Recurrent Inflammatory Pulmonary Disease, RIPD

Other Systems

AKNA

Renal Carcinoma

Kidney and Bladder

FLCN

Retina Dysplasia

Eyes

NDP, COL9A3

Sensory Neuropathy

Brain and Spinal Cord

FAM134B

Severe Combined Immunodeficiency, SCID

Immune

PRKDC, RAG1, IL2RG

Skeletal Dysplasia 2

Skeletal

COL11A2

Spinocerebellar Ataxia

Brain and Spinal Cord

SCN8A

Spinocerebellar Ataxia, Late-Onset Ataxia, LoSCA

Brain and Spinal Cord

CAPN1

Spinocerebellar Ataxia with Myokymia and/or Seizures

Brain and Spinal Cord

KCNJ10

Spondylocostal dysostosis

Skeletal

HES7

Stargardt Disease

Eyes

ABCA4

Stromal Gastrointestinal Tumor

Multisystem

KIT

Succinic Semialdehyde Dehydrogenase Deficiency

Metabolic

ALDH5A1

Thrombopathia

Blood

RASGRP2

Trapped Neutrophil Syndrome

Blood

VPS13B

Upper airway syndrome

Skeletal

ADAMTS3

Van den Ende-Gupta syndrome

Skeletal

SCARF2

Ventricular arrhythmia

Heart

MICOS13

Verrucous Epidermal Keratinocytic Nevi (VEKN)

Skin & Connective Tissue

NSDHL

Von Willebrand Disease

Blood

VWF