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Sheet: Sheet1

Table S8. A morbid map of PDZNet components with the classification of genetic diseases. | Unnamed: 1 | Unnamed: 2
Disease-associated gene | Disease name | Disease class
USH1G | Usher syndrome | multiple
ERCC3 | Xeroderma pigmentosum, [NAME] | Dermatological
CAC1C | Timothy syndrome | multiple
TNFL6 | Systemic lupus erythematosus | Immunological
SACS | Spastic paraplegia-7 | Neurological
SCN2A | Seizures | Neurological
DISC1 | Schizophrenia | Psychiatric
S22A4 | Rheumatoid arthritis | tissue
[NAME] | Retinitis punctata albescens | Ophthamological
VATB1 | Renal tubular acidosis with deafness | Renal
NOS1 | Pyloric stenosis | Developmental
PKHD1 | Polycystic kidney disease | Renal
PKD2 | Polycystic kidney disease | Renal
KPCA | Pituitary tumor | Cancer
NPT2A | Urolithiasis, Osteoporosis | Bone, [NAME]
SC6A2 | Orthostatic intolerance | Cardiovascular
ARHG8 | Orthostatic intolerance | Cardiovascular
LEPR | Obestiy with impaired prohormone processing | Nutritional
GABR2 | Nicotine dependence | Psychiatric
WASP | Thrombycytosis, Neutropenia, Wiskott-Aldrich syndrome | Hematological, Immunological
NPHN | Nephrotic syndrome | Renal
[NAME] | Neonatal ichthyosis-sclerosing cholangitis syndrome | multiple
PGFRB | Myelomonocytic leukemia, Myeloproliferative disorder with eosinophilia | Cancer
DLG3 | Mental retardation | Neurological
MERL | Meningioma, Neurofibromatosis, Schwannomatosis | Cancer
NOS2 | Malaria | Immunological
ATX3 | Machado-Joseph disease | Neurological
AKA10 | Longevity | Developmental
IRK2 | Long QT syndrome-7 | Cardiovascular
NF1 | Neurofibromatosis-Noonan syndrome, Neurofibromatosis, Leukemia, [NAME] syndrome | Cancer
ARHGC | Leukemia | Cancer
BCR | Leukemia | Cancer
AVR2B | Left-right axis malformations | Developmental
DTNA | Left ventricular noncompaction with congenital heart defects | Cardiovascular
CRUM1 | Pigmented paravenous chorioretinal atrophy, Leber congenital amaurosis, Retinitis punctata albescens | Ophthamological
SAT1 | Keratosis palmoplantaris striata III | Dermatological
IGF1R | Intrauterine and postnatal growth retardation | Developmental
PTN1 | Insulin resistance | Metabolic
S22AC | Hypouricemia | Renal
CLD16 | Hypomagnesemia with secondary hypocalcemia | Renal
LSHR | Hypogonadotropic hypogonadism, [NAME], Pseudohermaphroditism, [NAME] cell adenoma, Precocious puberty | Endocrine, Developmental, Renal, Cancer
PHS | Hyperphenylalaninemia | Metabolic
[NAME] | Hypercholanemia | Gastrointestinal
FHL3 | Hemophagocytic lymphohistiocytosis | Hematological
SRY | Gonadal dysgenesis | Endocrine
K6PF | Glycogen storage disease VII | Metabolic
GTR1 | Glucose transport defect | Metabolic
ACTN4 | Glomerulosclerosis | Renal
CD2AP | Glomerulosclerosis | Renal
PGFRA | [NAME], Gastrointestinal stromal tumor | Hematological, Cancer
KIT | Mast cell leukemia, Germ cell tumors, [NAME], Piebaldism, Mastocytosis with associated hematologic disorder, Gastrointestinal stromal tumor | Dermatological, Cancer, Immunological
F16P1 | Fructose-bisphosphatase deficiency | Metabolic
FLNA | Otopalatodigital syndrome, Melnick-Needles syndrome, Frontometaphyseal dysplasia, [NAME] | Skeletal, Neurological, multiple
FZD4 | Exudative vitreoretinopathy | Ophthamological
ESR1 | Migraine without aura, Estrogen resistance, HDL response to hormone replacement | Endocrine, Neurological, Metabolic
KCNA1 | Episodic ataxia | Neurological
PLEC1 | Epidermolysis bullosa simplex with mottled pigmentation, Muscular dystrophy with epidermolysis bullosa simplex | Muscular, Dermatological
ITA6 | Epidermolysis bullosa simplex with mottled pigmentation | Dermatological
PTH1R | Metaphyseal dysplasia without hypotrichosis, Enchondromatosis | tissue, Cancer
41 | Elliptocytosis | Hematological
IKBA | Ectodermal dysplasia/skin fragility syndrome | Dermatological
DRD2 | Dystonia | Neurological
MRP2 | Dubin-Johnson syndrome | Metabolic
[NAME] | Diabetic retinopathy | Endocrine
ATN1 | Dentatorubro-pallidoluysian atrophy | Neurological
TAU | Supranuclear palsy, Dementia, Pallidopontonigral degeneration, [NAME] and respiratory failure | Neurological
USH1C | Deafness, Usher syndrome | multiple, Ear,[NAME],Throat
CAD23 | Deafness, Usher syndrome | multiple, Ear,[NAME],Throat
MYO7A | Deafness, Usher syndrome | multiple, Ear,[NAME],Throat
CXB3 | Deafness, Erythrokeratodermia variabilis with erythema gyratum repens | Ear,[NAME],Throat, Dermatological
[NAME] | Deafness, Ectodermal dysplasia/skin fragility syndrome | Ear,[NAME],Throat, Dermatological
WHRN | Deafness | Ear,[NAME],Throat
AT2B2 | Deafness | Ear,[NAME],Throat
MYO15 | Deafness | Ear,[NAME],Throat
K2C1 | Ichthyosis, Epidermolytic palmoplantar keratoderma, [NAME]-Thost disease, Cyclic ichthyosis with epidermolytic hyperkeratosis, Keratosis palmoplantaris striata III | Dermatological
ATP7A | Occipital horn syndrome, Cutis laxa, Menkes disease | Neurological, tissue, multiple
DLG5 | Crohn disease | Gastrointestinal
EFNB1 | Craniofrontonasal dysplasia | Skeletal
SCN4A | Cramps, Hypokalemic periodic paralysis, Paramyotonia congenita, Hyperkalemic periodic paralysis, Myasthenic syndrome, Myotonia levior | Neurological, Renal, [NAME]
ADRB1 | Resting heart rate, Congestive heart failure | Cardiovascular
CFTR | Pancreatitis, Congenital bilateral absence of vas deferens, Cystic fibrosis, Sweat chloride elevation without CF, Hypertrypsinemia | Unclassified, Gastrointestinal, Respiratory
RA54B | Lymphoproliferative syndrome, Colorectal cancer with chromosomal instability | Cancer
CTNB1 | Hepatocellular carcinoma, Ovarian carcinoma, Colorectal cancer with chromosomal instability, Pilomatricoma | Cancer
SRC | Colorectal cancer with chromosomal instability | Cancer
KS6A3 | Coffin-Lowry syndrome, Mental retardation | Neurological, multiple
PVRL1 | Ectodermal dysplasia/skin fragility syndrome, [NAME] syndrome, Cleft palate with [NAME] | Developmental, multiple, Dermatological
K2C8 | Cirrhosis | Gastrointestinal
S26A3 | Chloride diarrhea | Gastrointestinal
KIF1B | Charcot-Marie-Tooth neuropathy | Neurological
LITAF | Charcot-Marie-Tooth neuropathy | Neurological
ABCA1 | Tangier disease, HDL response to hormone replacement, Cerebral amyloid angiopathy, Coronary heart disease | Neurological, Metabolic, Cardiovascular
CXA3 | Cataract | Ophthamological
CXA8 | Cataract | Ophthamological
S22A5 | Carnitine deficiency | Metabolic
SCN5A | Long QT syndrome-7, Sick sinus syndrome, Ventricular fibrillation, Heart block, Brugada syndrome | Cardiovascular
[NAME] | Newfoundland rod-cone dystrophy, Retinitis punctata albescens, Fundus flavimaculatus, Bothnia retinal dystrophy | Ophthamological
GLPC | Blood group, Malaria | Hematological, Immunological
DMD | [NAME] muscular dystrophy, Becker muscular dystrophy modifier, [NAME] | Muscular, Cardiovascular
IRK1 | Bartter syndrome | multiple
PTEN | Lhermitte-Duclos syndrome, [NAME]-like syndrome, [NAME], [NAME] carcinoma, Oligodendroglioma, Endometrial carcinoma, Prostate cancer, VATER association with hydrocephalus, [NAME] syndrome | Unclassified, multiple, Cancer
TNR6 | Autoimmune polyglandular disease, Squamous cell carcinoma | Cancer, Immunological
CXA1 | Syndactyly, Hypoplastic left heart syndrome, Atrioventricular septal defect, Oculodentodigital dysplasia | Skeletal, Cardiovascular
MRE11 | [NAME]-like disorder | Immunological
ADRB2 | Obestiy with impaired prohormone processing, Asthma, Beta-2-adrenoreceptor agonist | Unclassified, Respiratory, Nutritional
NLGNX | Autism, Mental retardation, Asperger syndrome | Neurological, Psychiatric
NLGN3 | Autism, Asperger syndrome | Psychiatric
TPM2 | Nemaline myopathy, Arthyrgryposis [NAME] | Developmental, Muscular
SC6A4 | Obsessive-compulsive disorder, Anxiety-related personality traits | Psychiatric
HD | Huntington disease-like-4, Obsessive-compulsive disorder, Anxiety-related personality traits | Neurological, Psychiatric
ALBU | Dysalbuminemic hyperthyroxinemia, Analbuminemia | Hematological
GELS | Amyloidosis | Neurological
PSN1 | Pick disease, Dementia, Alzheimer disease | Neurological
A4 | Amyloidosis, Schizophrenia, Alzheimer disease | Neurological, Psychiatric
PSN2 | Alzheimer disease | Neurological
5HT2A | Obsessive-compulsive disorder, Schizophrenia, Alcohol dependence, Anorexia nervosa, Seasonal affective disorder | Unclassified, Nutritional, Psychiatric
TYRP1 | Albinism | Dermatological
JAG1 | Deafness, Tetrology of Fallot, Alagille syndrome | multiple, Ear,[NAME],Throat, Cardiovascular
PUR9 | AICA-ribosiduria due to ATIC deficiency | Metabolic
APC | Adenomatous polyposis coli, Desmoid disease, Adenoma, Gastric cancer, Gardner syndrome, Turcot syndrome with glioblastoma, Colorectal cancer with chromosomal instability | Cancer
PRKN2 | Parkinson disease, [NAME], Leprosy | Neurological, Cancer, Immunological
ERBB2 | Gastric cancer, Ovarian carcinoma, Adenocarcinoma, Glioblastoma | Cancer
SSR5 | Acromegaly | Endocrine